Lv24
104 积分 2022-01-19 加入
CACNA1S mutation associated with a case of juvenile-onset congenital myopathy
4小时前
待确认
Dystrophin levels and clinical severity in Becker muscular dystrophy patients
1天前
已关闭
[Cloning of deletion junctions: a method of PCR for detecting the deletional pseudohypertrophic muscular dystrophy carriers]
1天前
已关闭
Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients
1天前
已完结
[Identification of pathogenic mutations in two Chinese families affected with primary localized cutaneous amyloidosis]
2天前
已完结
SET binding factor 1 ( SBF1 ) mutation causes Charcot-Marie-Tooth disease type 4B3
2天前
已完结
Discovery and Validation of Novel Genes in a Large Chinese Autism Spectrum Disorder Cohort
8天前
已完结
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players
24天前
已完结
A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China
24天前
已完结
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