Detalhe da pesquisa
1.
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
Ann Hum Genet
; 84(5): 380-392, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32427345
2.
A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.
Eur J Pediatr
; 175(4): 587-92, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26518681
3.
Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15.
Gene
; 516(1): 158-61, 2013 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23266801
4.
Array comparative genome hybridization in patients with developmental delay: two example cases.
N Biotechnol
; 29(3): 321-4, 2012 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20969982