Detalhe da pesquisa
1.
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Am J Hum Genet
; 109(12): 2270-2282, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36368327
2.
Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.
Clin Genet
; 80(4): 383-8, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20950377
3.
Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.
Clin Genet
; 74(5): 425-33, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18954413
4.
Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.
Prenat Diagn
; 30(3): 284-6, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20112233
5.
Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth.
Mol Syndromol
; 4(4): 173-8, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23801933