Lv419
410 积分 2025-05-09 加入
A novel missense mutation locus of cadherin 23 and the interaction of cadherin 23 and protocadherin 15 in a patient with usher syndrome
1个月前
已完结
Novel mutation located in EC7 domain of protocadherin-15 uncovered by targeted massively parallel sequencing in a family segregating non-syndromic deafness DFNB23
1个月前
已关闭
The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability
1个月前
已完结
Phenotype and genotype heterogeneity in Mediterranean citrullinemia
1个月前
已完结
Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation
1个月前
已关闭
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients
1个月前
已完结
SLIT2 Rare Sequencing Variants Identified in Idiopathic Hypogonadotropic Hypogonadism
1个月前
已完结
Comparison of Clinical Characteristics and Spermatogenesis in CHH Patients Caused by PROKR2 and FGFR1 Mutations
1个月前
已完结
Clinical and genetic evaluation of children with short stature of unknown origin
1个月前
已完结
PROKR2 mutations in idiopathic hypogonadotropic hypogonadism: selective disruption of the binding to a Gα‐protein leads to biased signaling
1个月前
已完结
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