Detalhe da pesquisa
1.
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Am J Hum Genet
; 105(5): 987-995, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31587868
2.
ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.
Am J Hum Genet
; 99(2): 451-9, 2016 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27476655
3.
Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features.
Am J Med Genet A
; 170(11): 2889-2894, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27566442
4.
Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors.
Am J Med Genet A
; 170A(2): 471-475, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26463753
5.
Dissecting the phenotype of supernumerary marker chromosome 20 in a patient with syndromic Pierre Robin sequence: combinatorial effect of gene dosage and uniparental disomy.
Am J Med Genet A
; 167(6): 1289-93, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25847371
6.
Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome.
Mol Syndromol
; 6(2): 99-103, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26279656