Lv4
730 积分 2023-01-11 加入
Updated Genotype-Phenotype Correlations in TSC
11天前
已完结
Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy
15天前
已完结
Recessive truncating titin gene, TTN , mutations presenting as centronuclear myopathy
17天前
已完结
Snyder-Robinson syndrome: differential diagnosis of osteogenesis imperfecta
18天前
已完结
An adult male with SHANK2 variant with epilepsy and obsessive‐compulsive disorder: Expanding the shankopathy phenotypic spectrum
18天前
已完结
TMEM151A as an alternative to PRRT2 in paroxysmal kinesigenic dyskinesia: About three new cases
29天前
已完结
Natural History and Clinical Outcomes of Patients With DSG2/DSC2 Variant-Related Arrhythmogenic Right Ventricular Cardiomyopathy
1个月前
已关闭
Natural History and Clinical Outcomes of Patients With DSG2/DSC2 Variant-Related Arrhythmogenic Right Ventricular Cardiomyopathy
1个月前
已完结
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review
1个月前
已完结
Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants
1个月前
已完结
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