Associated Papers
Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants.
Bildirici Y et al.
Pediatric Neurology, 2023
Spectrum of congenital and inherited ocular disorders seen in a genetic clinic: Experience of a developing ocular genetic service.
Sahu A et al.
Indian Journal of Ophthalmology, 2023
9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature.
Jensen MR et al.
Cold Spring Harbor Molecular Case Studies, 2022
NF1 Mutations Are Common in Desmoplastic Melanoma.
Wiesner T et al.
The American Journal of Surgical Pathology, 2015
Effects of splicing mutations on NF2-transcripts: transcript analysis and information theoretic predictions.
Ellis JR et al.
Genes, Chromosomes & Cancer, 2011
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