Detalhe da pesquisa
1.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Am J Hum Genet
; 102(1): 69-87, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290338
2.
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
J Med Genet
; 52(11): 754-61, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26264232
3.
Estimated Prevalence, Tumor Spectrum, and Neurofibromatosis Type 1-Like Phenotype of CDKN2A-Related Melanoma-Astrocytoma Syndrome.
JAMA Dermatol
; 159(10): 1112-1118, 2023 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37585199
4.
Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network.
J Clin Oncol
; 31(2): 210-6, 2013 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23233716