Popular New
- Prominent Mutation of Intron 22 Inversion in Sporadic Hemophilia: Is It Worth the Antenatal Screening?9 daysApplication of Clinical GeneticsRead
- Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example11 daysApplication of Clinical GeneticsRead
- Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation14 daysApplication of Clinical GeneticsRead
- CTLA-4 CT-60 A/G and CTLA-4 1822 C/T Gene Polymorphisms in Indonesians with Type 1 Diabetes Mellitus30 daysApplication of Clinical GeneticsRead
- HLA-DQA1 and HLA-DQB1 Gene Polymorphism in Indonesian Children with Type I Diabetes Mellitus137 daysApplication of Clinical GeneticsRead
- Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome143 daysApplication of Clinical GeneticsRead
- First Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features164 daysApplication of Clinical GeneticsRead
- Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam171 daysApplication of Clinical GeneticsRead
- Novel Genetic Causes of Gastrointestinal Polyposis Syndromes182 daysApplication of Clinical GeneticsRead
- The Clinical Genetics of Hemophilia B (Factor IX Deficiency)186 daysApplication of Clinical GeneticsRead
- Genetic Testing in CYLD Cutaneous Syndrome: An Update211 daysApplication of Clinical GeneticsRead
- Osteopontin Gene Polymorphisms rs1126616 C>T and rs1126772 A>G are Associated with Atopic Dermatitis in Polish Population235 daysApplication of Clinical GeneticsRead
- A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report236 daysApplication of Clinical GeneticsRead
- Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy240 daysApplication of Clinical GeneticsRead
- Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 – Case Study264 daysApplication of Clinical GeneticsRead
- Autoimmunity in Wiskott–Aldrich Syndrome: Updated Perspectives282 daysApplication of Clinical GeneticsRead
- Appropriate Clinical Genetic Testing of Hemochromatosis Type 2–4, Including Ferroportin Disease290 daysApplication of Clinical GeneticsRead
- ITPA:c.94C>A and NUDT15:c.415C>T Polymorphisms and Their Relation to Mercaptopurine-Related Myelotoxicity in Childhood Leukemia in Thailand304 daysApplication of Clinical GeneticsRead
- Evaluation of NLRP3 (rs10754558) and PTPN22 (1858C/T) (rs2476601) Functional Polymorphisms in Psoriasis Susceptibility in Egypt306 daysApplication of Clinical GeneticsRead
- Genetic Testing for Aneuploidy in Patients Who Have Had Multiple Miscarriages: A Review of Current Literature310 daysApplication of Clinical GeneticsRead
- Successful Pregnancy Following Preimplantation Genetic Diagnosis of Adrenoleukodystrophy by Detection of Mutation on the ABCD1 Gene318 daysApplication of Clinical GeneticsRead
- Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype327 daysApplication of Clinical GeneticsRead
- NAT2 Gene rs1041983 is Associated with Anti-Tuberculosis Drug Induced Hepatotoxicity Among Pediatric Tuberculosis in Bandung, Indonesia359 daysApplication of Clinical GeneticsRead
- Mutations Involved in Premature-Ageing Syndromes360 daysApplication of Clinical GeneticsRead
- The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report361 daysApplication of Clinical GeneticsRead
- A Case-Based Clinical Approach to the Investigation, Management and Screening of Families with BRCA2 Related Prostate Cancer373 daysApplication of Clinical GeneticsRead
- Genetic Predictors of Mortality in Patients with Multiple Myeloma394 daysApplication of Clinical GeneticsRead
- Pseudo-Meigs’ Syndrome in Tunisian H Syndrome Female Patient: First Case Reported394 daysApplication of Clinical GeneticsRead
- GM1 Gangliosidosis: Mechanisms and Management394 daysApplication of Clinical GeneticsRead
- The Role of Microglia in Inherited White-Matter Disorders and Connections to Frontotemporal Dementia394 daysApplication of Clinical GeneticsRead
- Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum394 daysApplication of Clinical GeneticsRead
- Genetic and Proteomic Contributions to the Pathophysiology of Moyamoya Angiopathy and Related Vascular Diseases394 daysApplication of Clinical GeneticsRead
- The Effect of Teratozoospermia on Sex Chromosomes in Human Embryos394 daysApplication of Clinical GeneticsRead
- Identifying Potential Mutations Responsible for Cases of Pulmonary Arterial Hypertension394 daysApplication of Clinical GeneticsRead
- Updates on Genes and Genetic Mechanisms Implicated in Primary Angle-Closure Glaucoma394 daysApplication of Clinical GeneticsRead
- Greig Cephalopolysyndactyly (GCPS) Contiguous Gene Syndrome in a Boy with a 14 Mb Deletion in Region 7p13-14 Caused by a Paternal Balanced Insertion (5; 7) [Expression of Concern]394 daysApplication of Clinical GeneticsRead
- A Novel Frameshift Mutation, Deletion of HBB:c.199_202delAAAG [Codon 66/67 (-AAAG)] in β-Thalassemia Major Patients from the Western Region of Uttar Pradesh, India394 daysApplication of Clinical GeneticsRead
- Genetic Factors Underlying Sudden Infant Death Syndrome394 daysApplication of Clinical GeneticsRead
- Y-Chromosome Microdeletions: A Review of Prevalence, Screening, and Clinical Considerations394 daysApplication of Clinical GeneticsRead
- The Gluten Gene: Unlocking the Understanding of Gluten Sensitivity and Intolerance394 daysApplication of Clinical GeneticsRead
- A Novel Allele-Specific PCR Protocol for the Detection of the HLA-C*03:02 Allele, a Pharmacogenetic Marker, in Vietnamese Kinh People394 daysApplication of Clinical GeneticsRead
- Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance488 daysApplication of Clinical GeneticsRead
- Challenges of Genomic Testing for Hereditary Breast and Ovarian Cancers499 daysApplication of Clinical GeneticsRead
- Role of Adiponectin Gene and Receptor Polymorphisms and Their mRNA Levels with Serum Adiponectin Level in Myocardial Infarction526 daysApplication of Clinical GeneticsRead
- A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies527 daysApplication of Clinical GeneticsRead
- Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases528 daysApplication of Clinical GeneticsRead
- Incidence of HNF1A and GCK MODY Variants in a South African Population530 daysApplication of Clinical GeneticsRead
- Voretigene Neparvovec and Gene Therapy for Leber’s Congenital Amaurosis: Review of Evidence to Date549 daysApplication of Clinical GeneticsRead
- The Human Genetic Variants CYP2J2 rs2280275 and EPHX2 rs751141 and Risk of Diabetic Nephropathy in Egyptian Type 2 Diabetic Patients555 daysApplication of Clinical GeneticsRead
- Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization631 daysApplication of Clinical GeneticsRead
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