Lv2
120 积分 2023-09-08 加入
Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations
6天前
已完结
Genetic diagnosis of childhood sensorineural hearing loss
12天前
已完结
F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency
14天前
已完结
Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia
17天前
已完结
A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India
17天前
已完结
Association of SLC26A4 muations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct
17天前
已完结
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series
24天前
已完结
Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family
24天前
已完结
Analysis of four hereditary protein C deficiencies associated with vascular thromboembolism
25天前
已完结
Biallelic LZTR1 variants in a 49‐year‐old woman with hypertrophic cardiomyopathy: A clue for considering LZTR1 in adults
1个月前
已完结
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