Lv05
0 积分 2025-04-25 加入
Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?
1小时前
待确认
Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants
1小时前
已完结
A Comprehensive Overview of NF1 Mutations in Iranian Patients
18小时前
已完结
Building a Hereditary Cancer Program in Colombia: A Comprehensive Analysis of Germline Pathogenic and Likely Pathogenic Variants Spectrum in a Hispanic/Latino Population
23小时前
求助中
Analysis of NF1 gene variants among thirteen patients with neurofibromatosis type 1
1天前
已完结
Analysis of the neurofibromatosis type 1 (NF1) GAP-related domain by site-directed mutagenesis
1天前
求助中
Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules
2天前
已完结
Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2
3天前
已完结
In Silico Analysis of NF2 Gene Missense Mutations in Neurofibromatosis Type 2
3天前
已完结
Impaired interaction of naturally occurring mutant NF2 protein with actin-based cytoskeleton and membrane
3天前
已完结
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