Lv4
450 积分 2025-07-17 加入
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology
8个月前
已完结
Intracellular degradation of beta4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia
8个月前
已完结
Molecular basis of non‐lethal junctional epidermolysis bullosa: identification of a 38 basepair insertion and a splice site mutation in exon 14 of the LAMB3 gene
8个月前
已完结
Intracellular Potentials in Rat Atria during and after Vagal Stimulation or Acetylcholine Administration
8个月前
已完结
A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype
8个月前
已完结
Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis ofMLC1
8个月前
已完结
Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts
8个月前
已完结
The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype–phenotype relationship and a hotspot on the inner DysF domain
8个月前
已完结
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non‐syndromic rod‐cone dystrophy
8个月前
已完结
The Anhidrotic Ectodermal Dysplasia Gene (EDA) Undergoes Alternative Splicing and Encodes Ectodysplasin-A with Deletion Mutations in Collagenous Repeats
8个月前
已完结
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