Detalhe da pesquisa
1.
Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.
Br J Cancer
; 112(8): 1392-7, 2015 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-25742478
2.
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
Clin Genet
; 88(3): 224-33, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25131214
3.
Multicentre approach to epidemiological aspects of craniosynostosis in Germany.
Br J Oral Maxillofac Surg
; 56(9): 881-886, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30360905
4.
In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome.
Mol Syndromol
; 2(6): 237-244, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22822383