Lv1
100 积分 2025-11-24 加入
A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing
5天前
已完结
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder
1个月前
已完结
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis
1个月前
已完结
Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis
1个月前
已完结
Phenotypic spectrum of MFN2 mutations in the Spanish population
1个月前
已完结
Mutations in CFTR genes are associated with oligoasthenospermia in infertile men undergoing IVF
2个月前
已完结
Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system
2个月前
已完结
SF3B2 Haploinsufficiency Associated With Hirschprung Disease and Complex Cardiac Defect Without Craniofacial Microsomia
2个月前
已完结
Haploinsufficiency of SF3B2 revealed by a craniofacial microsomia with atypical presentation: a case report
2个月前
已关闭
Molecular study and genotype/phenotype correlation of β thalassemia in Malaysia
2个月前
已完结
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