Lv1
40 积分 2025-11-12 加入
Trio‐WES and functional validation reveals a novel splice site variant of SLC26A3 in a case with congenital chloride diarrhea and a systematic review of SLC26A3 mutations in China
17天前
已完结
Precocious puberty associated with partial trisomy 18q and monosomy 11q
17天前
已关闭
A novel PIEZO2 mutation in a fetus from a Chinese family with Gordon syndrome
24天前
已完结
Novel Pathogenic Variant in PIEZO2 in a Korean Patient with Distal Arthrogryposis
27天前
已完结
Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients
27天前
已完结
Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients
27天前
已完结
High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss
28天前
已完结
Immunopathology of immune thrombocytopenia
1个月前
已完结
Probable Novel APP Met671Leu Mutation in a Chinese Han Family with Early-Onset Alzheimer’s Disease
1个月前
已完结
The natural history of progressive myoclonus ataxia
1个月前
已完结
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