Lv21
150 积分 2022-10-11 加入
Fetal Phenotype of CHARGE Syndrome with a Molecular Confirmation: A Series of 13 Cases
7天前
已完结
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation
15天前
已关闭
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation
15天前
已关闭
Spectrum ofRB1mutations identified in 403 retinoblastoma patients
15天前
已关闭
Screening Newborns for Low T Cell Receptor Excision Circles (TRECs) Fails to Detect Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome
15天前
已完结
Autosomal recessive EXT2 syndrome - extending the phenotypic spectrum of an emerging condition, a further case?
16天前
已完结
The inequity of targeted cystic fibrosis reproductive carrier screening tests in Australia
21天前
已关闭
Genotype/Phenotype Analysis in 67 Chinese Patients with Gitelman's Syndrome
21天前
已关闭
Autosomal recessive EXT2 syndrome - extending the phenotypic spectrum of an emerging condition, a further case?
24天前
已完结
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