34 papers found
Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination
Ophthalmological assessment of children with neurofibromatosis type 1
Review and Update of SPRED1 Mutations Causing Legius Syndrome
Molecular characterization of two novel KIT mutations in patients with piebaldism
Molecular Basis of Glomus Tumours
Legius Syndrome: Diagnosis and Pathology
Gustatory Flushing (Auriculotemporal Nerve Syndrome) in Children with Neurofibromatosis Type 1 and Facial Plexiform Neurofibromas
An 8.9 year old girl with autism and Gorlin syndrome
Observations on Intelligence and Behavior in 15 Patients with Legius Syndrome
Juvenile xanthogranuloma of the corneoscleral limbus: report of two cases
Multiple Granular Cell Tumors in a Child with Noonan Syndrome
Recurrent copy number alterations inBRCA1-mutated ovarian tumors alter biological pathways
Neurofibromatosis type 1 antisense therapy on the horizon?
Reply to Dr. Lin
Exclusion of linkage to 14q23-24 in a family with Holt-Oram syndrome
Somatic NF1 Mutations in Tumors and Other Tissues
Molecular and Cellular Mechanisms of Learning Disabilities: A Focus on Neurofibromatosis Type I
Classification of Sporadic and BRCA1 Ovarian Cancer Based on a Genome-Wide Study of Copy Number Variations.
What's new in the neuro-cardio-facial-cutaneous syndromes?
Genomic organization and evolution of the NF1 microdeletion region☆
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