Lv33
360 积分 2024-11-22 加入
Evaluation of the Clinical and Genetic Characteristics of Primary Ciliary Dyskinesia Patients With Situs Inversus Totalis
21小时前
已完结
Identification of novel mutations in hereditary spherocytosis patients by whole-exome sequencing
2天前
已完结
Novel ANK1 mutation in hereditary spherocytosis in a northeastern Thai patient: A case report
2天前
已完结
A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi–Pena syndrome
26天前
已完结
Characteristics and genotype–phenotype correlations in ADAMTS17 mutation–related Weill–Marchesani syndrome
1个月前
已完结
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome
1个月前
已关闭
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants
1个月前
已完结
Molecular Basis and Hematologic Phenotype of Hemoglobin H Disease Combined with Two Rare β-Globin Mutations
1个月前
已完结
Genotype and Phenotype Correlations in 417 Children With Congenital Hyperinsulinism
1个月前
已完结
Case Report A novel TSC1 mutation (c.1964delA) in a Chinese patient with tuberous sclerosis complex
1个月前
已关闭
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