Lv1
60 积分 2024-11-27 加入
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
2个月前
已关闭
Likely foregut endoderm origin for a postzygotic mutation affecting the RNase IIIb domain of DICER1
2个月前
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Biallelic DICER1 mutations occur in Wilms tumours
2个月前
已完结
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia
2个月前
已完结
Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets
2个月前
已完结
Clinical, immunological and genomic characteristics of children with X-linked agammaglobulinemia from Kerala, South India
2个月前
已完结
Clinical, immunological and genomic characteristics of children with X-linked agammaglobulinemia from Kerala, South India
2个月前
已完结
Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product
2个月前
已关闭
Calpainopathy (LGMD2A) in Croatia: molecular and haplotype analysis
2个月前
已关闭
A spectrum of BRCA1 and BRCA2 germline deleterious variants in ovarian cancer in Russia
2个月前
已完结
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