Reevaluating Usher syndrome: Transitioning from traditional subtypes to precision diagnosis

Browse: 339   Download: 684   Issue Date: 2025-12-01

Circular RNA: The evolving potential in the disease world

Browse: 507   Download: 985   Issue Date: 2024-09-19

Clinical utilities and end-user experience of pharmacogenomics: 39 mo of clinical implementation experience in an Australian hospital setting

Browse: 562   Download: 1804   Issue Date: 2023-12-20

Role of IL-2/IL-2 receptor in pathogenesis of autoimmune disorders: Genetic and therapeutic aspects

Browse: 541   Download: 1547   Issue Date: 2023-07-20

Mosaicism of a novel variant in the ANKRD11 gene in a child with a mild KBG phenotype: A case report

Browse: 567   Download: 2077   Issue Date: 2023-06-02

Genome-wide associations, polygenic risk, and Mendelian randomization reveal limited interactions between John Henryism and cynicism

Browse: 531   Download: 1883   Issue Date: 2023-06-02

Phenotypic and cytogenetic features of an Iranian child with tetrasomy 18p syndrome: A case report

Browse: 463   Download: 1819   Issue Date: 2023-03-10

Epigenetics in the etiology and management of infertility

Browse: 535   Download: 2143   Issue Date: 2022-10-27

Celiac sprue - a cryptic disease: A case report

Browse: 464   Download: 2107   Issue Date: 2022-07-20

New era of cystic fibrosis: Full mutational analysis and personalized therapy

Browse: 1533   Download: 3372   Issue Date: 2017-02-27

Chitosan DNA nanoparticles for oral gene delivery

Browse: 1396   Download: 3036   Issue Date: 2016-08-24

Mutation in TNXB gene causes moderate to severe Ehlers-Danlos syndrome

Browse: 1722   Download: 3670   Issue Date: 2016-06-24

Gene regulatory networks in atrial fibrillation

Browse: 1582   Download: 3861   Issue Date: 2016-02-23

Oncofertility in adolescent and young adult hereditary cancer: Considerations for genetics professionals

Browse: 1696   Download: 3033   Issue Date: 2015-11-27

Value of predictive bioinformatics in inherited metabolic diseases

Browse: 1283   Download: 2558   Issue Date: 2015-08-27

Comparison of next generation sequencing-based and methylated DNA immunoprecipitation-based approaches for fetal aneuploidy non-invasive prenatal testing

Browse: 1026   Download: 2861   Issue Date: 2015-05-27

Cell mediated gene therapy: A guide for doctors in the clinic

Browse: 1336   Download: 2945   Issue Date: 2015-02-27

Genome variation in the trophoblast cell lifespan: Diploidy, polyteny, depolytenization, genome segregation

Browse: 942   Download: 2121   Issue Date: 2014-11-27

Preimplantation HLA typing: Practical tool for stem cell transplantation treatment of congenital disorders

Browse: 920   Download: 1902   Issue Date: 2014-11-27

Role of SOX2 in foregut development in relation to congenital abnormalities

Browse: 865   Download: 1885   Issue Date: 2014-11-27

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