Detalhe da pesquisa
1.
Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family.
Int J Audiol
; 54(9): 593-8, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25926005
2.
Maternally inherited partial monosomy 9p (pter â p24.1) and partial trisomy 20p (pter â p12.1) characterized by microarray comparative genomic hybridization.
Am J Med Genet A
; 155A(11): 2754-61, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21948691
3.
Non-overlapping 22q11.2 microdeletions in patients with oculo-auriculo-vertebral spectrum.
Am J Med Genet A
; 164A(2): 551-3, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24311469
4.
Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment.
Clin Case Rep
; 7(8): 1582-1584, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31428396
5.
Partial 1q Duplications and Associated Phenotype.
Mol Syndromol
; 6(6): 297-303, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27022331
6.
A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family.
Hum Genome Var
; 2: 15038, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-27081546
7.
Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss.
Eur J Med Genet
; 57(4): 125-8, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24556497
8.
A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate.
Eur J Med Genet
; 56(4): 222-5, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23395979
9.
A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state.
Eur J Med Genet
; 55(11): 660-5, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22820457
10.
Preliminary molecular studies on blepharocheilodontic syndrome.
Am J Med Genet A
; 143A(22): 2757-9, 2007 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17937431