Lv2
140 积分 2022-11-02 加入
Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation
1年前
已完结
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1
1年前
已完结
Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders
1年前
已完结
A genotype-first approach identifies high incidence ofNF1pathogenic variants with distinct disease associations
1年前
已完结
Somatic Mosaicism: A Common Cause of Classic Disease in Tumor-Prone Syndromes? Lessons from Type 2 Neurofibromatosis
1年前
已完结
Somatic Mosaicism of NF2 Gene Mutation with Constitutional NF1 Gene Mutation in Neurofibromatosis Type 2: a Case Report
1年前
已完结
IQSEC2 and X-linked syndromal intellectual disability
1年前
已关闭
De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder
1年前
已完结
NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience
1年前
已完结
Cronología del diagnóstico de la neurofibromatosis tipo 1 en la infancia
1年前
已完结
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