Lv6
1710 积分 2023-07-23 加入
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
8小时前
已完结
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies
1天前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
5天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
10天前
已完结
Whole-Exome Sequencing of Patients With Posterior Segment Uveitis
14天前
已完结
Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia
14天前
已完结
Osteoporosis Caused by Monoallelic Variant of WNT1 Gene in Four Pediatric Patients
14天前
已完结
Factor VII deficiency in China: Phenotype, genotype and current status of management
14天前
已完结
Bone health in SATB2‐associated syndrome: Results from a large prospective cohort and recommendations for surveillance
15天前
已完结
Mutation spectrum of amyotrophic lateral sclerosis in Central South China
15天前
已完结
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