Lv6
1810 积分 2022-10-18 加入
ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy
12小时前
已完结
Mutations at the ataxia‐telangiectasia locus and clinical phenotypes of A–T patients
11天前
已完结
A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity
12天前
已完结
Novel and recurrent ASPM mutations of founder effect in Chinese population
13天前
已完结
The neurological and non-neurological roles of the primary microcephaly-associated protein ASPM
13天前
已关闭
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome
13天前
已完结
Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism
1个月前
已关闭
Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients
1个月前
已完结
Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients
1个月前
已完结
[Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening]
1个月前
已完结
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