Lv4
470 积分 2021-12-01 加入
Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants
4天前
已完结
Molecular landscape ofDYSFmutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective
7天前
已完结
A new case of SUPT16H-associated syndromic neurodevelopmental delay
9天前
已关闭
A Japanese boy with SUPT16H‐related neurodevelopmental disorder and congenital heart defects
9天前
已完结
Performance of the ACMG‐AMP criteria in a large familial renal glucosuria cohort with identified SLC5A2 sequence variants
11天前
已完结
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
15天前
已完结
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
15天前
已完结
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity
19天前
已完结
Familial porphyria cutanea tarda in Spain: Characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation
24天前
已完结
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