Detalhe da pesquisa
1.
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
Brain
; 145(3): 925-938, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35355055
2.
Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis).
J Craniofac Surg
; 23(3): 664-8, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22565872
3.
Diffuse Gastric Ganglioneuromatosis: Novel Presentation of PTEN Hamartoma Syndrome-Case Report and Review of Gastric Ganglioneuromatous Proliferations and a Novel PTEN Gene Mutation.
Case Rep Med
; 2018: 4319818, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29770149
4.
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
Am J Med Genet A
; 143A(24): 3204-15, 2007 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18000976
5.
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
Neurology
; 86(23): 2171-8, 2016 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27164704
6.
Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness.
Am J Med Genet A
; 140(20): 2216-22, 2006 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16955414