Lv41
684 积分 2025-02-27 加入
Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993-2020
21天前
已完结
Congenital heart defects in molecularly confirmed KBG syndrome patients
23天前
已完结
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patientsClinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
23天前
已完结
Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome
1个月前
已完结
Loss of CAA interruption and intergenerational CAG instability in Chinese patients with Huntington’s disease
1个月前
已完结
Loss of CAA interruption and intergenerational CAG instability in Chinese patients with Huntington’s disease
1个月前
已完结
Longitudinal analyses of electronic medical records reveal dynamic developmental trajectories for patients with SCN8A-related disorders
2个月前
已完结
Genetic Basis of Childhood Cardiomyopathy
2个月前
已完结
Genetic Basis of Childhood Cardiomyopathy
2个月前
已完结
Correspondence on "ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)" by Lee et al
2个月前
已关闭
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