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	Name	Last modified	Size
	Parent Directory
	2013 A three year descriptive study of early onset neonatal sepsis in a refugee population on the Thailand Myanmar border.pdf	2016-10-11 10:58	357 KB
	2013 Genotyping Plasmodium vivax isolates from the 2011 outbreak in Greece.pdf	2014-01-06 09:25	1328 KB
	2013 P268S in NOD2 associates with susceptibility to Parkinson’s disease in Chinese population.pdf	2016-10-11 10:58	653 KB
	2014 High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry.pdf	2016-07-14 08:09	605 KB
	2014 Impact of GEne Polymorphisms, Platelet REactivity and the SYNTAX Score on.pdf	2016-07-14 08:09	780 KB
	2014 New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease.pdf	2016-10-12 06:54	1094 KB
	2015 A New Method for Analyzing the Duffy Blood Group Genotype by TaqMan Minor Groove Binding Probes.pdf	2016-10-12 06:58	258 KB
	2015 Evaluation of DNA Extraction Methods from Saliva as a Source of PCR-Amplifiable Genomic DNA.pdf	2016-10-11 08:26	68 KB
	2015 Target Gene Capture Sequencing in Chinese Population of Sporadic Parkinson Disease.pdf	2016-10-11 10:52	536 KB
	2016 A Novel CCM2 Gene Mutation Associated with Familial Cerebral Cavernous Malformation.pdf	2016-10-12 03:40	1931 KB
	2016 Analysis of genetic polymorphisms associated with leukoaraiosis in the southern Chinese population.pdf	2016-10-12 03:15	435 KB
	2016 Assessment of direct versus indirect magnetic bead-based T-cell isolation procedures followed by magnetic bead-based DNA isolation.pdf	2016-10-11 10:53	916 KB
	2016 Association study of TREM2 polymorphism rs75932628 with leucoaraiosis or Parkinson’s disease in the Han Chinese population.pdf	2016-10-12 03:14	643 KB
	2016 Evaluation and comparison of in vitro degradation kinetics of DNA in serum, urine and saliva A qualitative study.pdf	2016-10-12 06:52	498 KB
	2016 Identification of a novel HLA-C allele HLA-C07477 in a Drung Chinese individual.pdf	2016-10-11 10:52	312 KB
	2016 Prevalence of ABCB4 polymorphisms in gallstone disease in han-Chinese population.pdf	2016-10-11 10:56	880 KB
	2017 Association of human platelet antigens polymorphisms with susceptibility to hepatitis C virus infection in Chinese population.pdf	2017-09-26 09:56	710 KB
	2017 Atypical Chemokine Receptor 1 polymorphism cannot be used as an indicator of liver fibrosis progression in Hepatitis C virus positive patients.pdf	2017-10-16 09:04	485 KB
	2017 BRCA1 homozygous unclassified variant in a patient with non-Fanconi anemia A case report.pdf	2018-03-08 01:34	693 KB
	2017 Case Report of a possible Fetal RASopathy with sonographic and neonatal findings and genetic evaluation.pdf	2018-02-05 06:28	893 KB
	2017 Guidelines for the Direct Detection of Anaplasma spp. in Diagnosis and Epidemiological Studies.pdf	2025-01-09 05:29	270 KB
	2017 L1 retrotransposon expression in circulating tumor cells.pdf	2017-04-11 07:52	551 KB
	2018 Association of human platelet antigen polymorphisms with platelet count and mean platelet volume.pdf	2018-03-09 07:51	737 KB
	2018 Clinical significance of HLA-E genotype and surface soluble expression levels between healthy.pdf	2018-08-20 16:22	1258 KB
	2018 Cytotoxic Effect of Synthesized AgNPs by Pulse Laser Ablation on Breast Cancer Cell Line (AMJ13) from Iraqi Patient and Normal Human Lymphocytes.pdf	2018-09-25 09:58	982 KB
	2018 Evidence of predisposing epimutation in retinoblastoma.pdf	2019-01-07 01:17	759 KB
	2018 Genetic Spatiotemporal Anatomy of Plasmodium vivax Malaria Episodes in Greece, 2009-2013.pdf	2018-02-22 02:08	1573 KB
	2018 In silico investigation of the molecular effects caused by R123H variant in secretory phospholipase A2-IIA associated with ARDS.pdf	2018-03-12 09:31	2135 KB
	2018 Newly designed 11-gene panel reveals first case of herefitary amyloidosis captured by massive paralllel sequencing.pdf	2018-02-23 01:24	825 KB
	2018 Nosocomial ventriculitis caused by a meticillin- and linezolid-resistant clone of Staphylococcus epidermidis in neurosurgical patients.pdf	2018-05-02 03:13	438 KB
	2018 Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma.pdf	2025-01-09 05:17	1364 KB
	2018 Study of the diagnostic accuracy of microbiological techniques in the diagnosis of malaria in the immigrant population in Madrid.pdf	2018-09-05 03:18	942 KB
	2018 The Association of V427M Missense Mutation of the PRODH Gene with Schizophrenia in the Iranian Patients.pdf	2019-01-07 03:55	136 KB
	2018 The role of polymorphisms of thiopurine methyltransferase in therapy with Azathioprine preliminary study.pdf	2018-12-24 07:47	511 KB
	2019 A Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension.pdf	2020-03-06 01:13	1152 KB
	2019 A novel Bruton tyrosine kinase gene variation was found in an adult with X‐linked agammaglobulinemia during blood cross‐mat.pdf	2020-03-06 01:04	1117 KB
	2019 A novel germline mutation of the SFTPA1 gene in familial inerstitial pneumonia.pdf	2019-05-03 07:57	735 KB
	2019 Analysis of causes of inherited thrombocytopenias.pdf	2019-11-15 08:31	3483 KB
	2019 Assocuation of 18bp insertion-deletion polymorphysm at -2549 position of VEGF gene with diabatic vascular complications .pdf	2019-05-03 07:34	1458 KB
	2019 DNA Methylation Validation Methods a Coherent Review with Practical Comparison-2019.pdf	2020-03-18 08:50	829 KB
	2019 Enhanced molecular typing and macrolide and tetracycline-resistance mutations of Treponema pallidum in Barcelona.pdf	2020-03-06 01:09	1513 KB
	2019 Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia.pdf	2020-03-06 01:07	3164 KB
	2019 MEIS2 gene is responsible for intellectual disability cardiac defects a.._.pdf	2019-11-15 07:42	787 KB
	2019 NGS data validated by Sanger sequencing reveal a puzzling small deletion of MYBPC3 gene associated with hypertrophic cardiomyopathy.pdf	2019-05-03 08:34	704 KB
	2019 Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis a case report-2019.pdf	2020-03-18 08:48	2086 KB
	2019 Parental mosaicism in epilepsies due to alleged de novo variants.pdf	2020-03-06 01:02	213 KB
	2019 Polymorphisms in CSN3, CSN2 and LGB genes and their relation to milk production in diary cattle in the Czech Republic.pdf	2019-05-03 07:51	760 KB
	2019 Single Nucleotide Polymorphisms in PEMT and MTFHR Genes are associated with Omega 3 and 6.pdf	2019-11-15 08:33	725 KB
	2019 Spliceogenic analysis of BRCA1 c.439TC (rs794727800) variant.pdf	2020-03-06 01:12	2095 KB
	2019 The genetic contribution of HLA to Posner-Schlossman syndrome in southern Chinese-.pdf	2020-03-18 09:07	301 KB
	2019 The phylogenetic analysis of a novel genetic subtype of caprine arthritis encephalitis virus (CAEV) in the Czech Republic.pdf	2025-01-14 09:26	89 KB
	2019 Two‐point‐NGS analysis of cancer genes in cell‐free DNA of metastatic cancer patients.pdf	2020-03-18 09:03	1190 KB
	2020 Adapting SureSelect enrichment protocol to the Ion Torrent S5 plasform in molecular diagnostics of craniosynostosis.pdf	2021-01-21 01:40	1813 KB
	2020 Analysis of BRCA1 and RAD51C Promoter Methylation in Italian Families at High-Risk of Breast and Ovarian Cancer.pdf	2020-04-14 08:53	419 KB
	2020 Association of candidate Single Nucleotide Polymorphisms Related to Candidate Genes.pdf	2020-04-14 08:52	1094 KB
	2020 Association of HLA class II (-DRB1,-DQB1,-DPB1) alleles and haplotypes on susceptibility to aplastic anemia in northern Chinese Han.pdf	2020-09-24 02:54	500 KB
	2020 Associations of site-specific CD4+-T-cell hypomethylation within CD40-ligand promotor and enhancer regions with disease activity of women with systemic lupus erythematosus.pdf	2021-01-19 07:15	378 KB
	2020 Atypical bartonellosis in children What do we know.pdf	2021-01-19 07:30	126 KB
	2020 Carriership of the rs113883650rs2287120 haplotype of the SLC7A5 (LAT1) gene increases the risk of obesity in infants with phenylketonuria.pdf	2020-09-24 09:26	1497 KB
	2020 Clinical utility of pharmacogenetic testing in the treatment of bipolar disorder of Chinese patients.pdf	2020-09-23 10:06	603 KB
	2020 Detecting Large Germline Rearrangements of BRCA1 by Next Generation Tumor Sequencing.pdf	2020-09-23 10:01	737 KB
	2020 Diagnostic test assessment. Validation study of an alternative system to detect microsatellite instability in colorectal carcinoma.pdf	2020-09-30 02:22	202 KB
	2020 Employing a Systematic Approach to Biobanking and Analyzing Genetic and Clinical.pdf	2020-09-24 02:56	650 KB
	2020 Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review.pdf	2021-01-19 07:16	1325 KB
	2020 Gene polymorphisms influencing on yield, composition and technological properties of milk from Czech Simmental and Holstein cows.pdf	2020-09-30 02:15	620 KB
	2020 Heterogenous mutation spectrum and deregulated cellular pathways in aberrant plasma cells underline molecular pathology of light-chain amyloidosis.pdf	2021-01-21 01:38	3108 KB
	2020 Identification of gene variants in a cohort of hypogonadotropic hypogonadism Diagnostic utility of custom NGS panel and WES in unravelling genetic complexity of the disease.pdf	2020-09-24 02:59	2000 KB
	2020 Identification of two novel LDLR variants by Next Generation Sequencing.pdf	2020-04-14 08:46	1946 KB
	2020 Is tumor testing efficiency for Lynch syndrome different in rectal and colon cancer.pdf	2020-09-23 10:06	620 KB
	2020 KIR3DL1 and HLA-Bw4 Interaction Showed a Favorable Role in Patients with Myelodysplastic Syndromes in Chinese Southern Han.pdf	2020-05-21 03:34	564 KB
	2020 MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype.pdf	2020-04-14 08:51	822 KB
	2020 Mitochondrial diversity of Yoruba and Fulani chickens A biodiversity reservoir in Nigeria.pdf	2020-09-30 02:24	1174 KB
	2020 Mitochondrial DNA variation in the Italian Heavy Draught Horse.pdf	2021-01-20 08:59	4503 KB
	2020 Molecular spectrum and distribution of hemoglobinopathies in southwest of Iran a seven-year retrospective study-2020.pdf	2020-03-18 09:07	258 KB
	2020 Myopia-26, the female-limited form of early-onset high myopia is associated with retinal ganglion cell dysfunction and primary open angle glaucoma.pdf	2020-09-30 02:32	1531 KB
	2020 New findings in oligogenic inheritance of congenital.pdf	2021-01-20 08:58	384 KB
	2020 Plasma levels of Interleukin 18 but not amyloid-β or Tau are elevated in female depressive patients-2020.pdf	2020-03-18 09:00	336 KB
	2020 Population-based Carrier Screening and Prenatal Diagnosis of Fragile X Syndrome in East Asian Populations.pdf	2020-09-30 02:31	484 KB
	2020 Pre- and Post-Zygotic TP53 De Novo Mutations.pdf	2020-09-25 09:58	2725 KB
	2020 Report of a germline double heterozygote in MSH2 and PALB2.pdf	2020-09-25 09:55	396 KB
	2020 Spliceogenic analysis of BRCA1 c.439TC (rs794727800) variant.pdf	2020-04-14 08:50	2095 KB
	2020 Two-point-NGS analysis of cancer genes in cell-free DNA of.pdf	2020-04-14 08:44	1190 KB
	2020 Vascular Endothelial Growth Factor Gene Polymorphisms.pdf	2020-04-17 05:30	358 KB
	2020 Yield of Rare Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy.pdf	2021-01-19 07:21	497 KB
	2021 13q Deletion Syndrome Involving RB1 Characterization of a New Minimal Critical Region for Psychomotor Delay.pdf	2021-08-31 02:34	4810 KB
	2021 A Novel Intronic Splice—Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development.pdf	2021-08-31 05:30	1610 KB
	2021 A Novel LDLR variant in a Ukrainian Patient A Case Report and Overview of the Disease-Causing LDLR Variants Associated to Familial Hypercholesterolemia.pdf	2022-05-03 09:25	875 KB
	2021 Association Between rs12037447, rs146732504, rs151078858, rs55723436, and rs6094136 Polymorphisms and Kawasaki Disease in the Population of Polish Child.pdf	2021-08-31 06:32	2104 KB
	2021 Association of CX3CR1 Gene Polymorphisms with Fractalkine, Fractalkine Receptor, and C-Reactive Protein Levels in Patients with Kidney Failure.pdf	2021-08-31 05:45	341 KB
	2021 Association of human platelet antigens polymorphisms with the levels of serum fibrosis marks in chronic hepatitis C patients.pdf	2021-08-31 05:48	2073 KB
	2021 Association of Metabolically Healthy and Unhealthy Obesity Phenotypes with Oxidative Stress Parameters and Telomere Length in Healthy Young Adult Men. Analysis of the MAGNETIC Study.pdf	2021-08-31 06:32	857 KB
	2021 Cardiofaciocutaneous syndrome – a longitudinal study of a case over 33 years case report and review of the literature.pdf	2022-05-03 08:46	760 KB
	2021 Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing.pdf	2022-05-03 09:20	2693 KB
	2021 Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH).pdf	2021-08-31 06:34	2015 KB
	2021 Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research.pdf	2025-01-14 09:54	2529 KB
	2021 Evaluating The Frequency Of Flt3-Tkd Among Patients Suffering Acute Myeloid Leukemia In Baghdad Province, Iraq.pdf	2022-05-03 09:02	299 KB
	2021 Evaluation of serum Nestin and HOTAIR rs12826786 CT polymorphism as screening tools for breast cancer in Egyptian women.pdf	2021-08-31 06:09	517 KB
	2021 Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review.pdf	2022-05-03 08:56	1344 KB
	2021 Gene polymorphisms influencing yield, composition and technological properties of milk from Czech Simmental and Holstein cows.pdf	2021-08-31 06:36	613 KB
	2021 Genetic Polymorphisms and Clinical Features in Diabetic Patients With Fatty Liver Results From a Single-Center Experience in Southern Italy.pdf	2022-05-03 09:35	265 KB
	2021 In Silico Analysis of Novel Titin Non-Synonymous Missense Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy..pdf	2022-05-03 09:15	596 KB
	2021 New Candidates for AutismIntellectual Disability Identified by Whole-Exome Sequencing.pdf	2022-05-03 09:43	1106 KB
	2021 New Variants of the Cytochrome P450 2R1 ( CYP2R1) Gene in Individuals with Severe Vitamin D-Activating Enzyme 25(OH)D Deficiency.pdf	2022-05-03 09:27	1325 KB
	2021 Newborn Screening for G6PD Deficiency in Xiamen, China Prevalence, Variant Spectrum, and Genotype-Phenotype Correlations.pdf	2022-05-03 09:37	2012 KB
	2021 Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta – Current Insights Into Collagen Type I Lethal Regions.pdf	2021-08-31 05:47	1158 KB
	2021 Pneumococcal Serotype Identification by Capsular Sequence Typing (CST) A Modified Novel Approach for Serotyping Directly in Clinical Samples.pdf	2022-05-03 08:49	655 KB
	2021 Somatic cell score gene polymorphisms and other effects in Holstein and Simmental cows.pdf	2021-08-31 05:43	615 KB
	2021 Spectrum of Clinical Features and Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children.pdf	2021-08-31 06:08	1148 KB
	2021 Spondyloocular Syndrome A Novel XYLT2 Variant with Description of the Neonatal Phenotype.pdf	2022-05-03 09:17	1453 KB
	2021 The Influence of Maternal Cell Contamination on Fetal Aneuploidy Detection Using Chip-Based Digital PCR Testing.pdf	2022-05-03 09:26	756 KB
	2021 The Role of Left-Atrial Mechanics Assessed by Two-Dimensional Speckle-Tracking Echocardiography to Differentiate Hypertrophic Cardiomyopathy from Hypertensive Left-Ventricular Hypert.pdf	2021-08-31 06:04	812 KB
	2021 Valine-279 Deletion–Mutation on Arginine Vasopressin.pdf	2021-08-31 05:33	10901 KB
	2022 A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.pdf	2022-05-03 08:14	2672 KB
	2022 Allelic Variations in the Human Genes TMPRSS2 and CCR5, and the Resistance to Viral Infection by SARS-CoV-2.pdf	2022-09-21 06:13	2865 KB
	2022 Chest wall deformities and their possible associations with different genetic syndromes.pdf	2022-09-21 07:06	376 KB
	2022 Clinical Presentation of Left Ventricular Noncompaction Cardiomyopathy and Bradycardia in Three Families Carrying HCN4 Pathogenic Variants.pdf	2022-05-03 08:06	2320 KB
	2022 Familial Lynch syndrome with early age of onset and confirmed splice site mutation in MSH2 A case report.pdf	2022-05-03 07:52	1090 KB
	2022 Familial Partial Lipodystrophy—Literature Review and Report of a Novel Variant in PPARG Expanding the Spectrum of Disease-Causing Alterations in FPLD3.pdf	2022-09-21 08:43	2410 KB
	2022 Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children—A Single Reference Center Experience.pdf	2022-09-21 06:17	1032 KB
	2022 Genetics and Sport Injuries New Perspectives for Athletic Excellence in an Italian Court of Rugby Union Players.pdf	2022-09-21 08:30	780 KB
	2022 Genome-wide Sequence Analyses of the Yakut Ethnic Group as a Tool for the Personalized Medicine in the Region.pdf	2022-05-03 08:02	426 KB
	2022 Genotype-phenotype correlations in Polish patients with hypertrophic cardiomyopathy Preliminary report.pdf	2022-05-03 07:45	49 KB
	2022 Identification and validation of DNA sequence variants in cancer predisposition genes by Next Generation Sequencing approaches.pdf	2023-07-02 08:28	2987 KB
	2022 Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder.pdf	2022-05-03 07:57	1687 KB
	2022 Impact of a Single-Tube PCR Assay for the Detection of Haemophilus influenzae Serotypes a, c, d, e and f on the Epidemiological Surveillance in Greece.pdf	2022-09-21 06:50	1207 KB
	2022 Management of BRCA Tumour Testing in an Integrated Molecular Tumour Board Multidisciplinary Model.pdf	2022-05-03 07:58	956 KB
	2022 Molecular background of Leber congenital amaurosis in a Polish cohort of patients—novel variants discovered by NGS.pdf	2023-01-30 07:13	2514 KB
	2022 New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.pdf	2022-05-03 08:15	325 KB
	2022 Nucleolar structure and the role of BYSL protein in ribosomopathies.pdf	2023-07-02 08:32	22289 KB
	2022 Optimized Droplet Digital PCR Assay on Cell-Free DNA Samples for Non-Invasive Prenatal Diagnosis Application to Beta-Thalassemia.pdf	2022-09-21 08:27	735 KB
	2022 Raman Spectroscopic Study of Amyloid Deposits in Gelatinous Drop-like Corneal Dystrophy.pdf	2022-05-03 08:00	4494 KB
	2022 Rhabdomyolysis Associated with Recent Infection in a Patient with Carnitine Palmitoyltransferase II Deficiency.pdf	2023-01-30 07:14	321 KB
	2022 SHFLD3 phenotypes caused by 17p13.3 triplication duplication encompassing Fingerin (BHLHA9) invariably.pdf	2023-01-30 07:42	4336 KB
	2022 The first glycine-to-tryptophan substitution in the COL1A1 gene identified in a patient with progressively-deforming Osteogenesis imperfecta.pdf	2022-09-21 07:15	667 KB
	2022 Whole Blood Samples for Faster Real-Time PCR Analysis of Thrombophilic Mutations in SARS-CoV-2 Virus Positive Patients.pdf	2022-09-21 08:35	632 KB
	2023 Analysis of the Genetic Characteristics and Metastatic Pathways of G1 and G2 Colorectal Neuroendocrine Neoplasms.pdf	2024-01-19 04:07	1204 KB
	2023 Androgen Insensitivity Syndrome DUE to Non-Coding Variation in the Androgen Receptor Gene Review of the Literature and Case Report of a Patient with Mosaic c.-547CT Variant.pdf	2024-01-19 06:19	684 KB
	2023 Association between Glutathione S-Transferases Gene Variants and COVID-19 Severity in Previously Vaccinated and Unvaccinated Polish Patients with Confirmed SARS-CoV-2 Infection.pdf	2023-07-02 08:09	335 KB
	2023 ASSOCIATION OF SPECIFIC GENETIC MARKERS OF THE HOST WITH THE RESPONSE TO ANTIRETROVIVAL THERAPY IN HIV POSITIVE PATIENTS.pdf	2023-07-02 07:41	325 KB
	2023 Biofilm-Forming Bacteria Implicated in Complex Otitis Media in Children in the Post-Heptavalent Pneumococcal Conjugate Vaccine (PCV7) Era.pdf	2023-07-02 08:08	349 KB
	2023 Ciliopatie - etiopatogeneze a molekulárně genetická diagnostika souvisejících syndromů.pdf	2023-07-02 07:46	1400 KB
	2023 Circulating tumor DNA in urine and its use as a potential biomarker of colorectal cancer.pdf	2023-07-02 07:45	2993 KB
	2023 Clinical Impact of Polygenic Risk Score for Breast Cancer Risk Prediction in 382 Individuals with Hereditary Breast and Ovarian Cancer Syndrome.pdf	2024-01-19 03:58	1934 KB
	2023 CNV and RNA analysis reveal a germline pathogenic duplication of MSH2 exon 15 in a family with Lynch syndrome A case report.pdf	2023-07-02 08:05	999 KB
	2023 Copy Number Variations (CNVs) account for 10.8% of pathogenic variants in patients referred for hereditary cancer testing.pdf	2024-01-19 06:15	2138 KB
	2023 De Novo Germline Partial Deletion of The MLH1 Gene in a 26-Year-Old Woman with Synchronous Colorectal Adenocarcinoma and Neuroendocrine Tumor of the Appendix.pdf	2023-07-02 07:56	342 KB
	2023 Enfermedad de Chagas en una zona no endémica.pdf	2023-07-02 08:04	2935 KB
	2023 Frequency and molecular basis of CD36 deficiency among platelet donors in Kunming China.pdf	2023-07-02 08:07	4734 KB
	2023 Frequency of Detection of Candida auris Colonization Outside a Highly Endemic Setting What Is the Optimal Strategy for Screening of Carriage.pdf	2024-01-19 04:07	710 KB
	2023 Genetic characteristics of spouse selection based on short tandem repeats in DNA and lunula count on fingertip.pdf	2024-01-19 05:55	2867 KB
	2023 Genetic predisposition in female patients with triple‑negative breast cancer.pdf	2024-01-19 05:50	278 KB
	2023 Genome-wide association studies of response and sideeffects to the BNT162b2 vaccine in Italian healthcareworkers Increased antib.pdf	2024-01-19 06:20	3086 KB
	2023 Glutathione S-Transferase P1 Genetic Variant’s Influence on the HbA1c Level in Type Two Diabetic Patients.pdf	2023-01-30 06:46	339 KB
	2023 Hereditary Gastric Cancer Single-Gene or Multigene Panel Testing A Mono-Institutional Experience.pdf	2023-07-02 07:49	657 KB
	2023 HLA‐DPB11301 associates with enhanced, and KIR2DS4001 with diminished protection from developing severe COVID‐19.pdf	2024-01-19 05:57	1941 KB
	2023 Hypercholesterolaemia in an I - Copy.pdf	2023-07-02 07:47	1231 KB
	2023 Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family.pdf	2023-07-02 07:47	1231 KB
	2023 Impact of rs1805127 and rs55742440 Variants on Atrial Remodeling in Hypertrophic Cardiomyopathy Patients with Atrial Fibrillation A Romanian Cohort Study.pdf	2024-01-19 06:17	319 KB
	2023 Lynch-like syndrome with germline WRN mutation in Bulgarian patient with synchronous endometrial and ovarian cancer.pdf	2023-01-30 06:48	9949 KB
	2023 Molecular background of Leber congenital amaurosis in a Polish cohort of patients—novel variants discovered by NGS.pdf	2024-01-19 01:56	2514 KB
	2023 Neck Ganglioneuroma Mimicking a Thyroid Nodule in a Four-Year-Old Child A Case Report and Review of the Literature.pdf	2023-07-02 07:57	8239 KB
	2023 Parallel testing of liquid biopsy (ctDNA) and tissue biopsy samples reveals a higher frequency of EZH2 mutations in follicular lymphoma.pdf	2023-07-02 07:47	2416 KB
	2023 Phenotype–Genotype Correlations in Three Different Cases of Adult-Onset Genetic Focal Segmental Glomerulosclerosis.pdf	2024-01-19 05:26	10190 KB
	2023 Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk lessons learned from a Czech pilot multidisciplinary study.pdf	2023-07-02 07:48	1326 KB
	2023 Prevalence of BRCA homopolymeric indels in an ION Torrent-based tumour-to-germline testing workflow in high-grade ovarian carcinoma.pdf	2023-07-02 07:49	1748 KB
	2023 RHC genotyping in Chinese Han population.pdf	2024-01-19 06:16	751 KB
	2023 The Apical Endocytic-Lysosomal Apparatus in CLCN5 Mutations with Phenotypic-Genotypic Correlations in Three Cases.pdf	2024-01-19 04:02	8232 KB
	2023 The HLA-DQA105 genotype does not influence the clinical response to ustekinumab and vedolizumab.pdf	2023-07-02 07:42	1137 KB
	2023 Title of the manuscript Lynch-like syndrome with germline WRN mutation in Bulgarian patient with synchronous endometrial and ovarian cancer.pdf	2023-07-02 08:22	9949 KB
	2023 To Test or Not to Test Routine Thrombophilia Diagnostic Screening of Women with Reproductive Failures.pdf	2024-01-19 05:37	523 KB
	2023 Vitamin D and Bone Metabolism in Adult Patients with Neurofibromatosis Type 1.pdf	2023-07-02 08:10	816 KB
	2024 A novel BRCA2 pathogenic variant c.7094_ 7100del (p.His2365LeufsTer9) in an Italian family with hereditary breast cancer.pdf	2024-06-17 05:18	678 KB
	2024 A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency a case report.pdf	2025-01-03 08:20	2254 KB
	2024 A novel thrombocytopenia‐4‐causing CYCS gene variant decreases caspase activity Three‐generation study.pdf	2024-12-25 02:59	1650 KB
	2024 Autosomal recessive type of dystrophic epidermolysis bullosa with a novel variant in the COL7A1 gene.pdf	2025-01-02 05:57	3152 KB
	2024 Case report Rethinking NGS analysis in diagnosing Diamond-Blackfan anemia syndrome.pdf	2024-12-25 03:03	1663 KB
	2024 CDH1 Genotype Exploration in Women With Hereditary Lobular Breast Cancer Phenotype.pdf	2025-01-03 07:47	1318 KB
	2024 Characterization of a New Variant in ARHGAP31 Probably Involved in Adams–Oliver Syndrome in a Family with a Variable Phenotypic Spectrum.pdf	2024-06-17 05:12	3676 KB
	2024 Clinical Assessment of Breast Cancer Resistance Protein (BCRP)-Mediated Drug–Drug Interactions of Sepiapterin with Curcumin and Rosuvastatin in Healthy Volunteers.pdf	2025-01-03 07:27	895 KB
	2024 Coffee Consumption and CYP1A2 Polymorphism Involvement in Type 2 Diabetes in a Romanian Population.pdf	2024-12-25 03:59	435 KB
	2024 Cognitive Impairments Related to COMT and Neuregulin 1 Phenotypes as Transdiagnostic Markers in Schizophrenia Spectrum Patients.pdf	2024-12-25 03:25	2535 KB
	2024 Comprehensive genetic analysis of STRC variants in hereditary hearing impairment using long-read sequencing.pdf	2025-02-06 05:25	1737 KB
	2024 COMT and Neuregulin 1 Markers for Personalized Treatment of Schizophrenia Spectrum Disorders Treated with Risperidone Monotherapy.pdf	2024-12-25 03:58	2472 KB
	2024 Correlation of FUT3 and FUT6 Gene Polymorphisms With Helicobacter pylori Infection.pdf	2025-01-03 06:26	419 KB
	2024 De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy Clinical Features and In Silico Analysis.pdf	2024-06-17 05:11	1533 KB
	2024 DNA methylation of ELOVL2 gene as an epigenetic marker of age among Egyptian population.pdf	2025-01-03 06:41	1079 KB
	2024 Effects of Tcte1 knockout on energy chain transportation and spermatogenesis implications for male infertility.pdf	2025-01-03 07:51	4410 KB
	2024 Epidemiological Investigation of Animal Brucellosis in Domestic Ruminants in Greece from 2015 to 2022 and Genetic Characterization of Prevalent Strains.pdf	2025-01-03 07:41	815 KB
	2024 Establishing an HLA-Typed Plateletpheresis Donor Registry at the Iranian.pdf	2024-12-30 03:10	469 KB
	2024 Evaluation of Automated Magnetic Bead–Based DNA Extraction for Detection of Short Tandem Repeat Expansions With Nanopore Sequencing.pdf	2024-06-17 05:21	478 KB
	2024 Evaluation the frequencies of HLA alleles in moderate and severe COVID-19 patients in Iran A molecular HLA typing study.pdf	2024-12-25 04:05	428 KB
	2024 Exome sequencing in Nigerian children with early‐onset epilepsy syndromes.pdf	2025-01-03 05:55	2491 KB
	2024 Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing.pdf	2024-12-25 02:59	1415 KB
	2024 Exploring the Relationship of rs2802292 with Diabetes and NAFLD in a Southern Italian Cohort—Nutrihep Study.pdf	2025-01-03 07:14	761 KB
	2024 Genetic Insights and Neonatal Outcomes in Preeclampsia and Eclampsia A Detailed Analysis of the RS5707 Genotype.pdf	2024-12-25 03:09	260 KB
	2024 Germinal polymorphism of methionine synthetase gene in the aspect of red meat consumption and colorectal cancer risk – preliminary report.pdf	2024-12-25 02:39	145 KB
	2024 Germline Co-deletion of CDKN2A and CDKN2B Genes in Pleomorphic Xanthoastrocytoma Case Report.pdf	2024-12-25 04:04	1845 KB
	2024 High Incidence of CPLANE1-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses.pdf	2024-12-25 03:32	891 KB
	2024 HSP and CD279 gene expression as candidate biomarkers in symptomatic LGLL patients.pdf	2024-12-25 05:08	1673 KB
	2024 Identification of the Novel HLA-DQA1050116 Allele by Next Generation Sequencing in a Chinese Individual.pdf	2025-01-03 05:51	536 KB
	2024 Into a Deeper Understanding of CYP2D6’s Role in Risperidone Monotherapy and the Potential Side Effects in Schizophrenia Spectrum Disorders.pdf	2024-12-25 04:07	660 KB
	2024 Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome.pdf	2025-01-03 06:59	3121 KB
	2024 Investigation of the association of the MLPH gene with seasonal canine flank alopecia in Rhodesian Ridgeback dogs.pdf	2024-12-25 03:25	1282 KB
	2024 MIR27A rs895819 CC Genotype Severely Reduces miR-27a Plasma Expression Levels.pdf	2024-12-25 03:02	913 KB
	2024 Molecular Diagnosis of Human Monkeypox Virus during 2022–23 Outbreak Preliminary Evaluation of Novel Real-Time Qualitative PCR Assays.pdf	2024-06-17 05:17	449 KB
	2024 Multiple polygenic risk scores can improve the prediction of systemic lupus erythematosus in Taiwan.pdf	2024-12-25 04:01	3055 KB
	2024 Netherton Syndrome with a Novel Likely Pathogenic Variant c.420del in SPINK5 Gene.pdf	2024-06-17 05:09	1041 KB
	2024 New mutation in the β-spectrin gene in hereditary spherocytosis A case report.pdf	2025-01-03 06:12	1150 KB
	2024 Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in SATB1 A New Case Report and Review of the Literature.pdf	2024-06-17 05:13	3163 KB
	2024 NOS2 Polymorphism in Aspect of Left and Right-Sided Colorectal Cancer.pdf	2024-12-25 03:14	279 KB
	2024 Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.pdf	2024-12-25 03:30	2724 KB
	2024 Parallel DNA RNA NGS Using an Identical Target Enrichment.pdf	2025-01-03 02:54	4940 KB
	2024 Phenotypic and Genotypic Features of the FAN1 Mutation-Related Disease in a Large Hungarian Family.pdf	2024-12-25 04:01	3673 KB
	2024 Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features.pdf	2025-01-03 07:02	1846 KB
	2024 Polymorphism Patterns and Socioeconomic Characteristics and Their Influence on the Risk of Preeclampsia.pdf	2024-06-17 05:18	325 KB
	2024 Polymorphisms of PDCD1 and COL9A1 Genes in Plaque, Palmoplantar and Arthropathic Psoriasis in Romanian Patients.pdf	2024-06-17 05:19	872 KB
	2024 Pseudomonas aeruginosa infection correlates with high MFI donor-specific antibody development following lung transplantation.pdf	2025-01-02 06:01	2746 KB
	2024 RHC genotyping in Chinese Han population.pdf	2024-06-17 05:10	1452 KB
	2024 Searching for genetic determinants for left ventricular non-compaction.pdf	2024-12-25 03:28	1325 KB
	2024 Small Complex Rearrangement in HINT1-Related Axonal Neuropathy.pdf	2025-01-03 07:58	4468 KB
	2024 The Clinical and Genetic Landscape of Hereditary Cancer Experience from a Single Clinical Diagnostic Laboratory.pdf	2024-12-25 03:29	3074 KB
	2024 The impact of alpha-1 antitrypsin deficiency alleles on lung cancer survival.pdf	2024-06-17 05:07	284 KB
	2024 The Impact of Haplotypes of the FTO Gene, Lifestyle, and Dietary Patterns on BMI and Metabolic Syndrome in Polish Young Adult Men.pdf	2024-12-25 03:12	601 KB
	2024 The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder.pdf	2024-06-17 05:09	561 KB
	2024 Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus A Rare Case of Probable Interchromosomal Effect.pdf	2025-01-03 05:44	1842 KB
	2024 Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.pdf	2024-12-25 04:03	2917 KB
	2024 Unveiling the dynamics and molecular landscape of a rare chronic lymphocytic leukemia subpopulation driving refractoriness insights from single-cell R.pdf	2024-12-25 03:36	14667 KB
	2024 Venetoclax Plus Intensified Chemoimmunotherapy as a Bridge to Allogeneic Stem Cell Transplantation in Richter Syndrome Report of Two Cases.pdf	2024-12-25 02:52	1369 KB
	2025 Current Updates on Molecular Diagnostic Assays Used for Detection of Candida auris A Systematic Review.pdf	2025-01-13 02:36	838 KB
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	2025 Exploring the Role of KIR2DS4 and HLA-A0207 in Predicting Chemotherapy Sensitivity and Erythrocytopenia in Nasopharyngeal Carcinoma.pdf	2025-02-14 06:45	939 KB
	2025 Fibronectin Glomerulopathy Without Typical Renal Biopsy Features in a 4-Year-Old Girl with Incidentally Discovered Proteinuria and a G417V FN1 Gene Mutation.pdf	2025-01-21 02:46	7185 KB
	2025 Genetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM) A Whole-Exome Sequencing Study.pdf	2025-02-03 01:47	256 KB
	2025 Incorporating nanopore sequencing into a diverse diagnostic toolkit for incontinentia pigmenti.pdf	2025-02-06 02:14	1772 KB
	2025 Inherited Hypertrabeculation Genetic and Clinical Insights in Blood Relatives of Genetically Affected Left Ventricular Excessive Trabeculation Patients.pdf	2025-02-03 01:36	2245 KB
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	2025 Somatic Mutations and Outcomes in CML Adolescent and Young Adults Compared to Children, Adults, and BCR ABL1-positive ALL Patients.pdf	2025-01-21 05:25	1725 KB
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	2025 Whole-Genome Sequencing-Based Population Genetic Analysis of Wild and Domestic Rabbit Breeds.pdf	2025-03-12 09:23	3337 KB
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