JOURNAL OF MEDICAL GENETICS最新收录文章列表-丁香通

简称J Med Genet

大类医学

小类遗传学

ISSN0022-2593

EISSN1468-6244

最新文献

UK clinical practice guidelines for the management of patients with constitutional

PMID: 403502522025-06

Canadian consensus for the assessment and testing of Lynch syndrome

PMID: 400818732025-04-17

Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study

PMID: 379403832024-05-21

Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature

PMID: 377889052024-02-21

Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on

PMID: 370762882023-11

Biallelic

PMID: 370805862023-10

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS- CHST14)

PMID: 348152992022-09

Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus

PMID: 355342052022-05-09

Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank

PMID: 321393922020-10

UKCGG Consensus Group guidelines for the management of patients with constitutional

PMID: 325719012020-06-22