Detalhe da pesquisa
1.
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
J Med Genet
; 60(7): 644-654, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446582
2.
Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.
Am J Med Genet A
; 188(9): 2819-2824, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35779070
3.
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.
Am J Hum Genet
; 89(2): 295-301, 2011 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21802062
4.
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
J Med Genet
; 50(3): 174-86, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23315542
5.
Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication.
Am J Med Genet A
; 161A(8): 2030-5, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23794319
6.
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases.
Eur J Hum Genet
; 27(9): 1379-1388, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31053785
7.
The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency.
Eur J Med Genet
; 61(7): 393-398, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29477862