Lv1
30 积分 2024-10-28 加入
Novel MEIOB pathogenic variants including a homozygous non-canonical splicing variant, cause meiotic arrest and human non-obstructive azoospermia
5天前
已完结
Hermansky–Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis
5天前
已完结
SRD5A3-CDG: A patient with a novel mutation
5天前
已完结
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
5天前
已完结
Extremely severe aortic stenosis developed in a young female patient with underdiagnosis of homozygous familial hypercholesterolemia: An 8-year follow-up
6天前
已完结
HOGA1 variants in Chinese patients with primary hyperoxaluria type 3: genetic features and genotype–phenotype relationships
17天前
已完结
Characterizing the spectrum and clinical impact of GJB2 mutations in patients with hearing loss: Insights into genetic variability and phenotypic outcomes
20天前
已完结
Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency
24天前
已完结
The loss of function GBA1 c.231C > G mutation associated with Parkinson disease
1个月前
已完结
STRC Deletion is a Frequent Cause of Slight to Moderate Congenital Hearing Impairment in the Czech Republic
1个月前
已完结
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