Associated Papers
Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants.
Ates K et al.
Molecular Syndromology, 2025
Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children.
Nasi L et al.
Acta Dermato-venereologica, 2023
37272364 (PubMed )
Supplement: ActaDV-103-5758-s1.pdf
Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.
Brinckmann A et al.
Electrophoresis, 2007
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