Lv11
90 积分 2023-08-30 加入
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients
22天前
已关闭
Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X- linked neuronal migration defects
23天前
已完结
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect
1个月前
已完结
An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA
1个月前
已完结
[Postnatal and prenatal diagnosis of mucopolysaccharidosis type III (Sanfilippo syndrome)]
1个月前
已完结
[Analysis of a child with autosomal dominant mental retardation type 40 due to variant of CHAMP1 gene]
1个月前
已完结
Generation of a human iPSC line (ZJSHDPi001-A) from peripheral blood mononuclear cells of a patient with Developmental epileptic encephalopathy-47 carrying FGF12 gene mutation (c.334G > A)
1个月前
已完结
De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy
1个月前
已完结
Prevalence of the factor V-Leiden mutation in four distinct American ethnic populations
2个月前
已完结
Profiling Fanconi Anemia Gene Mutations among Iranian Patients
3个月前
已关闭
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