Detalhe da pesquisa
1.
CGH array for the identification of a compound heterozygous mutation in the CYP1B1 gene in a patient with bilateral anterior segment dysgenesis.
Clin Chem Lab Med
; 57(4): e63-e66, 2019 03 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30207287
2.
Two novel genomic rearrangements identified in suicide subjects using a-CGH array.
Clin Chem Lab Med
; 53(10): e245-8, 2015 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25719327
3.
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.
Mol Genet Genomic Med
; 8(1): e1056, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31851782
4.
Molecular analysis of cluster headache.
Clin J Pain
; 31(1): 52-7, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24469609
5.
Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss.
Mol Cytogenet
; 8: 18, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25821518
6.
Identification of a deletion in the NDUFS4 gene using array-comparative genomic hybridization in a patient with suspected mitochondrial respiratory disease.
Gene
; 535(2): 376-9, 2014 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-24295889
7.
Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.
Gene
; 536(1): 213-6, 2014 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24315824