Lv1
40 积分 2024-05-31 加入
Evolution by gene duplication revisited: differentiation of regulatory elements versus proteins
13小时前
求助中
Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients
5天前
已完结
Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities
13天前
已完结
Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG)
19天前
已完结
Molecular Genetic and Phenotypic Analysis Reveals Differences between TSC1 and TSC2 Associated Familial and Sporadic Tuberous Sclerosis
19天前
已完结
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome
1个月前
已完结
[Analysis of clinical manifestation and genetic mutation in a child with X-linked chondrodysplasia punctata 2]
2个月前
已完结
[Dynamin-1-related infantile spasms: a case report and review of literature]
2个月前
已完结
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole‐exome sequencing
2个月前
已完结
A novel pathogenic variant at the C‐terminal propeptide cleavage site of COL1A1, causing osteogenesis imperfecta with intrafamilial variability
2个月前
已完结
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