Lv4
480 积分 2024-02-26 加入
Mosaicism for 47,XXY or 47,XXY/46,XY at amniocentesis in a pregnancy with a favorable outcome and no prominent perinatal decrease of the 47,XXY cell line
5天前
已关闭
From splitting GLUT1 deficiency syndromes to overlapping phenotypes
1个月前
已完结
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
1个月前
已完结
Phenotype-genotype relationships inPEX10-deficient peroxisome biogenesis disorder patients
1个月前
已完结
Factors predicting the occurrence of disease-causing variants on next-generation sequencing in children with steroid-resistant nephrotic syndrome — implications for resource-constrained settings
2个月前
已完结
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study
2个月前
已完结
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study
2个月前
已完结
Incorporating second-tier genetic screening for multiple acyl-CoA dehydrogenase deficiency
2个月前
已完结
Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective
2个月前
已完结
Trochlear nerve agenesis in a patient with 18q22.2q23 deletion
2个月前
已完结
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