Lv1
52 积分 2023-09-15 加入
Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study
11小时前
待确认
Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-methylene tetrahydrofolate reductase (MTHFR) deficiency in patients from Pakistan
8天前
已完结
Expanding the Clinical Spectrum of BCARD Syndrome Caused by Novel Biallelic Variants in the PLOD3 Gene
13天前
已关闭
Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project
15天前
已完结
Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project
15天前
已完结
Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study
20天前
已完结
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients
27天前
已完结
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients
27天前
已完结
Genetic and clinical characteristics of primary hemophagocytic lymphohistiocytosis in children
28天前
已完结