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160 积分 2021-07-09 加入
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
3个月前
已关闭
Utility of clinical exome sequencing in progressive myoclonus epilepsy syndromes: An exploratory analysis
4个月前
已完结
[Genetic Analysis and Prenatal Diagnosis of a Family with Hereditary Spherocytosis Caused by a Novel Compound Heterozygous Mutation of SPTB Gene]
4个月前
已关闭
Whole‐exome sequencing uncovered genetic diagnosis of severe inherited haemolytic anaemia: Correlation with clinical phenotypes
4个月前
已完结
Mutational Landscape and Outcomes of Conjunctival Melanoma in 101 Patients
4个月前
已完结
Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex
8个月前
已关闭
Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex
8个月前
已完结
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
8个月前
已关闭
X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gene
8个月前
已关闭
X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gene
8个月前
已关闭
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