Reevaluating Usher syndrome: Transitioning from traditional subtypes to precision diagnosis

Browse: 172   Download: 433   Issue Date: 2025-12-01

Circular RNA: The evolving potential in the disease world

Browse: 418   Download: 839   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: 488   Download: 1646   Issue Date: 2023-12-20

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

Browse: 483   Download: 1370   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: 499   Download: 1917   Issue Date: 2023-06-02

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

Browse: 461   Download: 1669   Issue Date: 2023-06-02

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

Browse: 425   Download: 1472   Issue Date: 2023-03-10

Epigenetics in the etiology and management of infertility

Browse: 478   Download: 1712   Issue Date: 2022-10-27

Celiac sprue - a cryptic disease: A case report

Browse: 412   Download: 1676   Issue Date: 2022-07-20

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

Browse: 1444   Download: 3151   Issue Date: 2017-02-27

Chitosan DNA nanoparticles for oral gene delivery

Browse: 1349   Download: 2751   Issue Date: 2016-08-24

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

Browse: 1601   Download: 3324   Issue Date: 2016-06-24

Gene regulatory networks in atrial fibrillation

Browse: 1493   Download: 3600   Issue Date: 2016-02-23

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

Browse: 1656   Download: 2831   Issue Date: 2015-11-27

Value of predictive bioinformatics in inherited metabolic diseases

Browse: 1243   Download: 2475   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: 889   Download: 2596   Issue Date: 2015-05-27

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

Browse: 1199   Download: 2748   Issue Date: 2015-02-27

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

Browse: 908   Download: 1958   Issue Date: 2014-11-27

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

Browse: 872   Download: 1799   Issue Date: 2014-11-27

Role of SOX2 in foregut development in relation to congenital abnormalities

Browse: 817   Download: 1743   Issue Date: 2014-11-27

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