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76 积分 2024-10-14 加入
Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients
11小时前
求助中
Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus
16天前
已完结
Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus
21天前
已关闭
A case report of two Moroccan patients with hereditary neurological disorders and molecular modeling study on the S72L de novo PMP22 variant
2个月前
已关闭
A retrospective review of reclassification of Variants of Uncertain Significance in a pediatric epilepsy cohort undergoing genetic panel testing
2个月前
已完结
Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory
2个月前
已完结
Functional Investigation of TUBB4A Variants Associated with Different Clinical Phenotypes
2个月前
已完结
Tubulin mutations in human neurodevelopmental disorders
2个月前
已完结
Diagnostic strategies in CADASIL
2个月前
已完结
Diagnostic strategies in CADASIL
2个月前
已关闭
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