Lv11
40 积分 2022-03-11 加入
Genetic analysis and functional study of a novel ABCG5 mutation in sitosterolemia with hematologic disease
3小时前
待确认
Pathophysiology of dilated cardiomyopathy: from mechanisms to precision medicine
1个月前
已完结
Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China
1个月前
已完结
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
3个月前
已完结
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
3个月前
已完结
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation
3个月前
已完结
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt
3个月前
已完结
Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype–phenotype relationship, and clinical outcome
3个月前
已完结
Functional Analysis of Calcium-Sensing Receptor Variants Identified in Families Provisionally Diagnosed with Familial Hypocalciuric Hypercalcaemia
5个月前
已完结
Nuak kinase signaling in development and disease of the central nervous system
6个月前
已完结
皖公网安备34019202002308
