Lv12
90 积分 2025-02-23 加入
Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene
1天前
已关闭
Two novel mutations of the retinitis pigmentosa GTPase regulator gene in two Chinese families with X-linked retinitis pigmentosa
12天前
已关闭
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease
12天前
已完结
Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia
21天前
已完结
Unilateral diaphragmatic paralysis: a matter for concern
1个月前
已关闭
Novel insight into the phenotype of microcephaly 19 in the patient with missense COPB2 mutation
1个月前
已完结
一例由KCNJ6基因新发变异导致的Keppen-Lubinsky综合征患儿的临床及遗传学分析
1个月前
已完结
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