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764 积分 2025-02-27 加入
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
6天前
已完结
Chromosomal abnormalities associated with neural tube defects (I): full aneuploidy
1个月前
已完结
Mosaic trisomy 9 presenting with congenital heart disease, facial dysmorphism and pigmentary skin lesions: intricate issues of genetic counseling
1个月前
已完结
Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993-2020
2个月前
已完结
Congenital heart defects in molecularly confirmed KBG syndrome patients
2个月前
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
2个月前
已完结
Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome
2个月前
已完结
Loss of CAA interruption and intergenerational CAG instability in Chinese patients with Huntington’s disease
3个月前
已完结
Loss of CAA interruption and intergenerational CAG instability in Chinese patients with Huntington’s disease
3个月前
已完结
Longitudinal analyses of electronic medical records reveal dynamic developmental trajectories for patients with SCN8A-related disorders
3个月前
已完结
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