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30 积分 2025-08-01 加入
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis‐van Creveld syndrome caused by hypomorphic mutations in the EVC gene
2个月前
已完结
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis
2个月前
已完结
The oligodontia phenotype in a X-linked hypohidrotic ectodermal dysplasia patient with a novel EVC2 variant
2个月前
已完结
Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis–van Creveld syndrome patients
3个月前
已完结
Widening the mutation spectrum ofEVCandEVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling
3个月前
已完结
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis
3个月前
已完结
Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC / EVC2 and TMC1 genes
5个月前
已完结
Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis–van Creveld syndrome patients
6个月前
已完结
Ellis‐van Creveld syndrome: Report of a case and recurrent variant
6个月前
已完结
Widening the mutation spectrum ofEVCandEVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling
6个月前
已完结
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