Lv65
2012 积分 2024-06-13 加入
Prospective study to analyze the yield and clinical impact of trio exome sequencing in 137 Indian children with autism spectrum disorder
5小时前
待确认
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders
5小时前
待确认
A case of senile-onset progressive hemiballism and cognitive decline with diffuse brain iron accumulations
4天前
已完结
Multigene Panel Testing for Hereditary Cancer and Genetic Counseling
10天前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
10天前
已完结
Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene
17天前
已完结
Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT)
25天前
已完结
Phenotypic and molecular features of Thai patients with primary carnitine deficiency
1个月前
已完结
Two familial cases of infantile epileptic spasms syndrome associated with UDP-glucose-6-dehydrogenase deficiency
1个月前
已完结
Exon Skipping Caused by Noncanonical Splicing Mutation in PRDX3-Related Spinocerebellar Ataxia
1个月前
已完结
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