Detalhe da pesquisa
1.
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
Am J Hum Genet
; 104(5): 914-924, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982611
2.
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Hum Mol Genet
; 23(11): 2888-900, 2014 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24403048
3.
YPEL1 overexpression in early avian craniofacial mesenchyme causes mandibular dysmorphogenesis by up-regulating apoptosis.
Dev Dyn
; 244(8): 1022-30, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26061551
4.
Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.
Expert Rev Mol Med
; 17: e13, 2015 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26132880
5.
Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature.
Eur J Hum Genet
; 31(5): 531-540, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36529818
6.
Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum.
Genes (Basel)
; 14(10)2023 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37895297
7.
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability.
Eur J Hum Genet
; 31(5): 521-525, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446895