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10 积分 2025-07-13 加入
A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
3小时前
待确认
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation
3小时前
已完结
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation
1天前
求助中
Conformationally Modulated Intramolecular Electron Transfer Process in a Diaza[2,2]ferrocenophane
8天前
已完结
Prenatal Diagnosis of Extracardiac Malformations Caused by an ACTC1 Variant Presented With Cystic Hygroma and Multiple Congenital Contractures
8天前
已完结
Association of Rare Nonsynonymous Variants in PKD1 and PKD2 with Familial Intracranial Aneurysms in a Japanese Population
14天前
已完结
Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test
21天前
已完结
Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemma
21天前
已完结
Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia
28天前
已完结
Targeted sequencing and integrative analysis of 3,195 Chinese patients with neurodevelopmental disorders prioritized 26 novel candidate genes
1个月前
已完结
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