Lv1
28 积分 2023-08-29 加入
A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes
2天前
已完结
Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia
3天前
已完结
Developmental Regression and Epilepsy of Infancy with Migrating Focal Seizures Caused by TBCD Mutation: A Case Report and Review of the Literature
8天前
已完结
Clinical and molecular diagnosis of genodermatoses: Review and perspectives
11天前
已完结
Identification of novel compound heterozygous variants of the ALMS1 gene in a child with Alström syndrome by whole genome sequencing
16天前
已完结
Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis
23天前
已完结
Further delineation of short chain enoyl CoA hydratase deficiency in the Pacific population
1个月前
已完结
Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss
1个月前
已完结
Combined homology modelling and evolutionary significance evaluation of missense mutations in blood clotting factor VIII to highlight aspects of structure and function
1个月前
已关闭
Incomplete-penetrant hypertrophic cardiomyopathy MYH7 G256E mutation causes hypercontractility and elevated mitochondrial respiration
1个月前
已完结
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