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40 积分 2024-10-28 加入
New insights into CC2D2A-related Joubert syndrome
4天前
已完结
[Blood 7-ketocholesterol level, clinical features and gene mutation analysis of 18 children with Niemann-Pick disease type C]
26天前
已完结
Implications of Genetic Testing in Dilated Cardiomyopathy
1个月前
已完结
Protean cutaneous manifestation caused by ABCA12 variants: erythrokeratodermia variabilis-like ichthyosis and unique palmoplantar keratoderma
1个月前
已完结
Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients
1个月前
已完结
[Clinical and genetic analysis of a family with autosomal dominant-familial Mediterranean fever]
1个月前
已完结
Novel MEIOB pathogenic variants including a homozygous non-canonical splicing variant, cause meiotic arrest and human non-obstructive azoospermia
1个月前
已完结
Hermansky–Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis
1个月前
已完结
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