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default2013 A three year descriptive study of early onset.pdf2016-10-11 10:58357 KB
default2013 Genotyping Plasmodium vivax isolates from the.pdf2014-01-06 09:251328 KB
default2013 P268S in NOD2 associates with susceptibility to.pdf2016-10-11 10:58653 KB
default2014 High-throughput detection of common sequence variations of Fabry.pdf2016-07-14 08:09605 KB
default2014 Impact of GEne Polymorphisms, Platelet REactivity and the SYNTAX Score on.pdf2016-07-14 08:09780 KB
default2014 New mutations and polymorphisms of the ATP7B gene in sporadic.pdf2016-10-12 06:541094 KB
default2015 A New Method for Analyzing the Duffy Blood Group Genotype.pdf2016-10-12 06:58258 KB
default2015 Evaluation of DNA Extraction Methods from Saliva as a Source of PCR-Amplifiable Genomic DNA.pdf2016-10-11 08:2668 KB
default2015 Target Gene Capture Sequencing in Chinese Population of.pdf2016-10-11 10:52536 KB
default2016 A Novel CCM2 Gene Mutation Associated with Familial Cerebral Cavernous Malformation.pdf2016-10-12 03:401931 KB
default2016 Analysis of genetic polymorphisms associated with leukoaraiosis in the southern Chinese population.pdf2016-10-12 03:15435 KB
default2016 Assessment of direct versus indirect.pdf2016-10-11 10:53916 KB
default2016 Association study of TREM2.pdf2016-10-12 03:14643 KB
default2016 Evaluation and comparison of in vitro degradation kinetics of DNA in.pdf2016-10-12 06:52498 KB
default2016 Identification of a novel HLA-C allele HLA-C07477 in a Drung Chinese individual.pdf2016-10-11 10:52312 KB
default2016 Prevalence of ABCB4 polymorphisms in gallstone.pdf2016-10-11 10:56880 KB
default2017 Association of human platelet antigens polymorphisms.pdf2017-09-26 09:56710 KB
default2017 Atypical Chemokine Receptor 1 polymorphism cannot.pdf2017-10-16 09:04485 KB
default2017 BRCA1 homozygous unclassified variant in a patient with non-Fanconi anemia A case report.pdf2018-03-08 01:34693 KB
default2017 Case Report of a possible Fetal RASopathy with sonographic and neonatal findings and genetic evaluation.pdf2018-02-05 06:28893 KB
default2017 L1 retrotransposon expression in circulating tumor cells.pdf2017-04-11 07:52551 KB
default2018 Association of human platelet antigen polymorphisms with platelet count and mean platelet volume.pdf2018-03-09 07:51737 KB
default2018 Clinical significance of HLA-E genotype and surface soluble expression levels between healthy.pdf2018-08-20 16:221258 KB
default2018 Cytotoxic Effect of Synthesized AgNPs by Pulse Laser Ablation on Breast Cancer Cell Line (AMJ13) from Iraqi Patient and Normal Human Lymphocytes.pdf2018-09-25 09:58982 KB
default2018 Evidence of predisposing epimutation in retinoblastoma.pdf2019-01-07 01:17759 KB
default2018 Genetic Spatiotemporal Anatomy of Plasmodium vivax Malaria Episodes in Greece, 2009-2013.pdf2018-02-22 02:081573 KB
default2018 In silico investigation of the molecular effects caused by R123H variant.._.pdf2018-03-12 09:312135 KB
default2018 Newly designed 11-gene panel reveals first case of herefitary amyloidosis captured by massive paralllel sequencing.pdf2018-02-23 01:24825 KB
default2018 Nosocomial ventriculitis caused by a meticillin- and linezolid-resistant clone of Staphylococcus epidermidis in neurosurgical patients.pdf2018-05-02 03:13438 KB
default2018 Study of the diagnostic accuracy of microbiological techniques in the diagnosis of malaria in the immigrant population in Madrid.pdf2018-09-05 03:18942 KB
default2018 The Association of V427M Missense Mutation of the PRODH Gene with Schizophrenia in the Iranian Patients.pdf2019-01-07 03:55136 KB
default2018 The role of polymorphisms of thiopurine.pdf2018-12-24 07:47511 KB
default2019 A Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension.pdf2020-03-06 01:131152 KB
default2019 A combined targeted and whole exome sequencing approach identified nover candidate genes involved in heritable pulmonary arterial hypertension.pdf2019-05-03 07:451148 KB
default2019 A novel Bruton tyrosine kinase gene variation was found in an adult with X‐linked agammaglobulinemia during blood cross‐mat.pdf2020-03-06 01:041117 KB
default2019 A novel germline mutation of the SFTPA1 gene in familial inerstitial pneumonia.pdf2019-05-03 07:57735 KB
default2019 Analysis of causes of inherited thrombocytopenias.pdf2019-11-15 08:313483 KB
default2019 Assocuation of 18bp insertion-deletion polymorphysm at -2549 position of VEGF gene with diabatic vascular complications .pdf2019-05-03 07:341458 KB
default2019 DNA Methylation Validation Methods a Coherent Review with Practical Comparison-2019.pdf2020-03-18 08:50829 KB
default2019 DNA Methylation Validation Methods.pdf2019-11-18 04:07829 KB
default2019 Enhanced molecular typing and macrolide and tetracycline-resistance mutations of Treponema pallidum in Barcelona.pdf2020-03-06 01:091513 KB
default2019 Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia.pdf2020-03-06 01:073164 KB
default2019 MEIS2 gene is responsible for intellectual disability cardiac defects a.._.pdf2019-11-15 07:42787 KB
default2019 NGS data validated by Sanger sequencing reveal a puzzling small deletion of MYBPC3 gene associated with hypertrophic cardiomyopathy.pdf2019-05-03 08:34704 KB
default2019 Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis a case report-2019.pdf2020-03-18 08:482086 KB
default2019 Novel genetic variant of HPS1 gene inHermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis.pdf2019-11-15 08:532086 KB
default2019 Parental mosaicism in epilepsies due to alleged de novo variants.pdf2020-03-06 01:02213 KB
default2019 Polymorphisms in CSN3, CSN2 and LGB genes and their relation to milk production in diary cattle in the Czech Republic.pdf2019-05-03 07:51760 KB
default2019 Single Nucleotide Polymorphisms in PEMT and MTFHR Genes are associated with Omega 3 and 6.pdf2019-11-15 08:33725 KB
default2019 Spliceogenic analysis of BRCA1 c.439TC (rs794727800) variant.pdf2020-03-06 01:122095 KB
default2019 The genetic contribution of HLA to Posner-Schlossman syndrome in southern Chinese-2019.pdf2020-03-18 09:07301 KB
default2019 Two‐point‐NGS analysis of cancer genes in cell‐free DNA of metastatic cancer patients-2019.pdf2020-03-18 09:031190 KB
default2020 Adapting SureSelect enrichment protocol to the Ion Torrent S5 plasform in molecular diagnostics of craniosynostosis.pdf2021-01-21 01:401813 KB
default2020 Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis-2020.pdf2020-03-18 09:101670 KB
default2020 Analysis of BRCA1 and RAD51C Promoter Methylation in Italian Families at High-Risk of Breast and Ovarian Cancer.pdf2020-04-14 08:53419 KB
default2020 Association of candidate Single Nucleotide Polymorphisms Related to Candidate Genes.pdf2020-04-14 08:521094 KB
default2020 Association of HLA class II (-DRB1,-DQB1,-DPB1) alleles and haplotypes on susceptibility to aplastic anemia in northern Chinese Han.pdf2020-09-24 02:54500 KB
default2020 Associations of site-specific CD4+-T-cell hypomethylation within CD40-ligand promotor and enhancer regions with disease activity of women with systemic lupus erythematosus.pdf2021-01-19 07:15378 KB
default2020 Atypical bartonellosis in children What do we know.pdf2021-01-19 07:30126 KB
default2020 Carriership of the rs113883650rs2287120 haplotype of the SLC7A5 (LAT1) gene increases the risk of obesity in infants with phenylketonuria.pdf2020-09-24 09:261497 KB
default2020 Clinical utility of pharmacogenetic testing in the treatment of bipolar disorder of Chinese patients.pdf2020-09-23 10:06603 KB
default2020 Detecting Large Germline Rearrangements of BRCA1 by Next Generation Tumor Sequencing.pdf2020-09-23 10:01737 KB
default2020 Diagnostic test assessment. Validation study of an alternative system to detect microsatellite instability in colorectal carcinoma.pdf2020-09-30 02:22202 KB
default2020 Employing a Systematic Approach to Biobanking and Analyzing Genetic and Clinical.pdf2020-09-24 02:56650 KB
default2020 Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review.pdf2021-01-19 07:161325 KB
default2020 Gene polymorphisms influencing on yield, composition and technological properties of milk from Czech Simmental and Holstein cows.pdf2020-09-30 02:15620 KB
default2020 Heterogenous mutation spectrum and deregulated cellular pathways in aberrant plasma cells underline molecular pathology of light-chain amyloidosis.pdf2021-01-21 01:383108 KB
default2020 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.pdf2020-09-24 02:592000 KB
default2020 Identification of two novel LDLR variants by Next Generation Sequencing.pdf2020-04-14 08:461946 KB
default2020 Is tumor testing efficiency for Lynch syndrome different in rectal and colon cancer.pdf2020-09-23 10:06620 KB
default2020 KIR3DL1 and HLA-Bw4 Interaction Showed a Favorable Role in Patients with Myelodysplastic Syndromes in Chinese Southern Han.pdf2020-05-21 03:34564 KB
default2020 MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype.pdf2020-04-14 08:51822 KB
default2020 Mitochondrial diversity of Yoruba and Fulani chickens A biodiversity reservoir in Nigeria.pdf2020-09-30 02:241174 KB
default2020 Mitochondrial DNA variation in the Italian Heavy Draught Horse.pdf2021-01-20 08:594503 KB
default2020 Molecular spectrum and distribution of hemoglobinopathies in southwest of Iran a seven-year retrospective study-2020.pdf2020-03-18 09:07258 KB
default2020 Myopia-26, the female-limited form of early-onset high myopia is associated with retinal ganglion cell dysfunction and primary open angle glaucoma.pdf2020-09-30 02:321531 KB
default2020 New findings in oligogenic inheritance of congenital.pdf2021-01-20 08:58384 KB
default2020 Plasma levels of Interleukin 18 but not amyloid-β or Tau are elevated in female depressive patients-2020.pdf2020-03-18 09:00336 KB
default2020 Population-based Carrier Screening and Prenatal Diagnosis of Fragile X Syndrome in East Asian Populations.pdf2020-09-30 02:31484 KB
default2020 Pre- and Post-Zygotic TP53 De Novo Mutations.pdf2020-09-25 09:582725 KB
default2020 Report of a germline double heterozygote in MSH2 and PALB2.pdf2020-09-25 09:55396 KB
default2020 Spliceogenic analysis of BRCA1 c.439TC (rs794727800) variant.pdf2020-04-14 08:502095 KB
default2020 Two-point-NGS analysis of cancer genes in cell-free DNA of.pdf2020-04-14 08:441190 KB
default2020 Vascular Endothelial Growth Factor Gene Polymorphisms.pdf2020-04-17 05:30358 KB
default2020 Yield of Rare Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy.pdf2021-01-19 07:21497 KB
default2021 13q Deletion Syndrome Involving RB1 Characterization of a New Minimal Critical Region for Psychomotor Delay.pdf2021-08-31 02:344810 KB
default2021 A Novel Intronic Splice—Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development.pdf2021-08-31 05:301610 KB
default2021 A Novel LDLR variant in a Ukrainian Patient A Case Report and Overview of the Disease-Causing LDLR Variants Associated to Familial Hypercholesterolemia.pdf2022-05-03 09:25875 KB
default2021 Association Between rs12037447, rs146732504, rs151078858, rs55723436, and rs6094136 Polymorphisms and Kawasaki Disease in the Population of Polish Child.pdf2021-08-31 06:322104 KB
default2021 Association of CX3CR1 Gene Polymorphisms with Fractalkine, Fractalkine Receptor, and C-Reactive Protein Levels in Patients with Kidney Failure.pdf2021-08-31 05:45341 KB
default2021 Association of human platelet antigens polymorphisms with the levels of serum fibrosis marks in chronic hepatitis C patients.pdf2021-08-31 05:482073 KB
default2021 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.pdf2021-08-31 06:32857 KB
default2021 Association of Metabolically Healthy and Unhealthy Obesity.pdf2021-01-19 07:29857 KB
default2021 Cardiofaciocutaneous syndrome – a longitudinal study of a case over 33 years case report and review of the literature.pdf2022-05-03 08:46760 KB
default2021 Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing.pdf2022-05-03 09:202693 KB
default2021 Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH).pdf2021-08-31 06:342015 KB
default2021 Evaluating The Frequency Of Flt3-Tkd Among Patients Suffering Acute Myeloid Leukemia In Baghdad Province, Iraq.pdf2022-05-03 09:02299 KB
default2021 Evaluation of serum Nestin and HOTAIR rs12826786 CT polymorphism as screening tools for breast cancer in Egyptian women.pdf2021-08-31 06:09517 KB
default2021 Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review.pdf2022-05-03 08:561344 KB
default2021 Gene polymorphisms influencing yield, composition and technological properties of milk from Czech Simmental and Holstein cows.pdf2021-08-31 06:36613 KB
default2021 Genetic Polymorphisms and Clinical Features in Diabetic Patients With Fatty Liver Results From a Single-Center Experience in Southern Italy.pdf2022-05-03 09:35265 KB
default2021 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..pdf2022-05-03 09:15596 KB
default2021 New Candidates for AutismIntellectual Disability Identified by Whole-Exome Sequencing.pdf2022-05-03 09:431106 KB
default2021 New Variants of the Cytochrome P450 2R1 ( CYP2R1) Gene in Individuals with Severe Vitamin D-Activating Enzyme 25(OH)D Deficiency.pdf2022-05-03 09:271325 KB
default2021 Newborn Screening for G6PD Deficiency in Xiamen, China Prevalence, Variant Spectrum, and Genotype-Phenotype Correlations.pdf2022-05-03 09:372012 KB
default2021 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.pdf2021-08-31 05:471158 KB
default2021 Pneumococcal Serotype Identification by Capsular Sequence Typing (CST) A Modified Novel Approach for Serotyping Directly in Clinical Samples.pdf2022-05-03 08:49655 KB
default2021 Somatic cell score gene polymorphisms and other effects in Holstein and Simmental cows.pdf2021-08-31 05:43615 KB
default2021 Spectrum of Clinical Features and Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children.pdf2021-08-31 06:081148 KB
default2021 Spondyloocular Syndrome A Novel XYLT2 Variant with Description of the Neonatal Phenotype.pdf2022-05-03 09:171453 KB
default2021 The Influence of Maternal Cell Contamination on Fetal Aneuploidy Detection Using Chip-Based Digital PCR Testing.pdf2022-05-03 09:26756 KB
default2021 The Role of Left-Atrial Mechanics Assessed by Two-Dimensional Speckle-Tracking Echocardiography to Differentiate Hypertrophic Cardiomyopathy from Hypertensive Left-Ventricular Hypert.pdf2021-08-31 06:04812 KB
default2021 Valine-279 Deletion–Mutation on Arginine Vasopressin.pdf2021-08-31 05:3310901 KB
default2022 A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.pdf2022-05-03 08:142672 KB
default2022 Allelic Variations in the Human Genes TMPRSS2 and CCR5, and the Resistance to Viral Infection by SARS-CoV-2.pdf2022-09-21 06:132865 KB
default2022 Chest wall deformities and their possible associations with different genetic syndromes.pdf2022-09-21 07:06376 KB
default2022 Clinical Presentation of Left Ventricular Noncompaction Cardiomyopathy and Bradycardia in Three Families Carrying HCN4 Pathogenic Variants.pdf2022-05-03 08:062320 KB
default2022 Familial Lynch syndrome with early age of onset and confirmed splice site mutation in MSH2 A case report.pdf2022-05-03 07:521090 KB
default2022 Familial Partial Lipodystrophy—Literature Review and Report of a Novel Variant in PPARG Expanding the Spectrum of Disease-Causing Alterations in FPLD3.pdf2022-09-21 08:432410 KB
default2022 Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children—A Single Reference Center Experience.pdf2022-09-21 06:171032 KB
default2022 Genetics and Sport Injuries New Perspectives for Athletic Excellence in an Italian Court of Rugby Union Players.pdf2022-09-21 08:30780 KB
default2022 Genome-wide Sequence Analyses of the Yakut Ethnic Group as a Tool for the Personalized Medicine in the Region.pdf2022-05-03 08:02426 KB
default2022 Genotype-phenotype correlations in Polish patients with hypertrophic cardiomyopathy Preliminary report.pdf2022-05-03 07:4549 KB
default2022 Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder.pdf2022-05-03 07:571687 KB
default2022 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.pdf2022-09-21 06:501207 KB
default2022 Management of BRCA Tumour Testing in an Integrated Molecular Tumour Board Multidisciplinary Model.pdf2022-05-03 07:58956 KB
default2022 New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.pdf2022-05-03 08:15325 KB
default2022 Raman Spectroscopic Study of Amyloid Deposits in Gelatinous Drop-like Corneal Dystrophy.pdf2022-05-03 08:004494 KB
default2022 SHFLD3 phenotypes caused by 17p13.3 triplication duplication encompassing Fingerin (BHLHA9) invariably.pdf2022-09-21 05:394336 KB
default2022 The first glycine-to-tryptophan substitution in the COL1A1 gene identified in a patient with progressively-deforming Osteogenesis imperfecta.pdf2022-09-21 07:15667 KB
default2022 Whole Blood Samples for Faster Real-Time PCR Analysis of Thrombophilic Mutations in SARS-CoV-2 Virus Positive Patients.pdf2022-09-21 08:35632 KB
defaultdesktop.ini2020-04-01 07:341 KB