Lv11
48 积分 2023-08-09 加入
Clinical Findings and Diagnostic Yield of Arrhythmogenic Cardiomyopathy Through Genomic Screening of Pathogenic or Likely Pathogenic Desmosome Gene Variants
13小时前
待确认
Paroxysmal Kinesigenic Gait Disorder in a 6-Year-Old Girl With N-α-Acetyltransferase 10 Related Syndrome (NAA10RS) Associated With c.235C>T (p.R79C): Expanding Phenotype
9天前
已完结
Difference in Clinical Phenotype, Mutation Position, and Structural Change of RNF213 Rare Variants Between Pediatric and Adult Japanese Patients with Moyamoya Disease
10天前
已完结
Clinical use of whole exome sequencing in children with developmental delay/intellectual disability
10天前
已完结
Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics
16天前
已完结
Are SHROOM4 loss-of-function variants pathogenic?
18天前
已完结
A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands
21天前
已完结
Clinical and genetic spectrum of children with congenital diarrhea and enteropathy in China
22天前
已完结
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