Lv1
30 积分 2024-09-26 加入
[Phenotypic and genotypic features of twenty children with classic pantothenate kinase-associated neurodegeneration]
2个月前
已完结
Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency
3个月前
已完结
Comprehensive Mutational Screening in a Cohort of Danish Families with Hereditary Congenital Cataract
3个月前
已完结
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
3个月前
已完结
Genetic etiology study in a large cohort with congenital insensitivity to pain with anhidrosis
4个月前
已完结
The decrease of T3 / T4 is not hypothyroidism - a new mutation of Serpina7 gene results in partial thyroglobulin deficiency
8个月前
已关闭
Phenotypic and genotypic characterization of familial hypercholesterolemia in French adult and pediatric populations
8个月前
已完结
The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees
9个月前
已完结
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
1年前
已完结
Refinement of pathogenicity classification of variants associated with familial hypercholesterolemia: Implications for clinical diagnosis
1年前
已完结
皖公网安备34019202002308
