Lv75
3710 积分 2024-11-14 加入
Identification of novel compound heterozygous variants of the ALMS1 gene in a child with Alström syndrome by whole genome sequencing
10天前
已完结
FLNC -Related Cardiomyopathies in an Admixed Population: Expanding the Genotype-Phenotype Spectrum and Clinical Correlates
27天前
已完结
Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction
1个月前
已完结
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly
1个月前
已关闭
Mutation-specific Mismatch Repair–deficient Benign Endometrial Glands in Endometrial Biopsies and Curettings Are a Biomarker of Lynch Syndrome and Associate With Endometrial Carcinoma Development
2个月前
已完结
Population-Based Investigation of DMD Genotype and Neurodevelopmental Concerns in Duchenne Muscular Dystrophy
2个月前
已完结
Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP: Figure 1
2个月前
已完结
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism
3个月前
已完结
Phenotypic and molecular characterization of a recurrent SPTAN1 mutation causing SPG91
3个月前
已完结
De Novo SPTAN1 Lys2083del Variant in a Korean Patient with Pure Cerebellar Ataxia
3个月前
已完结
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