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10 积分 2025-11-27 加入
Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders
44分钟前
待确认
Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: Genetic heterogeneity, novel mutations in theTRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies
1天前
已完结
FDA-approved drug screening in patient-derived organoids demonstrates potential of drug repurposing for rare cystic fibrosis genotypes
15天前
已完结
Identification of a new splice site mutation (3849 +1G←A) in the intron 19 of the CFTR gene
15天前
已完结
Childhood onset myoclonus-dystonia associated with a novel KCTD17 variant in an Indian patient
15天前
已完结
COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture
15天前
已关闭
A novel KCTD17 mutation in a Chinese family associated with myoclonus dystonia
19天前
已关闭
Genetic and clinical characteristics of primary hemophagocytic lymphohistiocytosis in children
21天前
已完结
[Gene screening and phenotype analysis in a pedigree with familial hypertrophic cardiomyopathy from Yunnan Province]
22天前
已完结
Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report
23天前
已完结
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