Lv11
56 积分 2022-06-14 加入
Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts
2小时前
待确认
Arginase deficiency-An unheralded cause of developmental epileptic encephalopathy
14天前
已完结
Mutations Causing Profound Biotinidase Deficiency in Children Ascertained by Newborn Screening in the United States Occur at Different Frequencies than in Symptomatic Children
17天前
已关闭
A comparison of the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses
22天前
已完结
[Genetic analysis of ASS1, ASL and SLC25A13 in citrullinemia patients]
28天前
已完结
[Preliminary analysis of mutations in X-linked adrenoleukodystrophy gene(ABCD1) in Chinese patients]
1个月前
已关闭
[Mutation analysis of phenylalanine hydroxylase gene in 55 patients with phenylketonuria from Hebei province]
1个月前
已完结
[Identification of a novel c.1A>G variant of GDAP1 gene in a pedigree affected with autosomal recessive fibula atrophy]
1个月前
已完结
[Analysis of the MUT gene mutations in patients with methylmalonic acidemia]
1个月前
已完结
Genetic, clinical, and pathological study of patients with severe hypertension-associated renal microangiopathy
1个月前
已完结
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