Detalhe da pesquisa
1.
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.
Am J Hum Genet
; 93(6): 1118-25, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24268655
2.
Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.
Am J Med Genet A
; 170(12): 3133-3137, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27642715
3.
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
Am J Med Genet A
; 167A(3): 461-75, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604898
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.
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
Am J Med Genet A
; 161A(4): 671-8, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23401279
6.
The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients.
Am J Med Genet A
; 146A(7): 917-24, 2008 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18327785
7.
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.
Eur J Hum Genet
; 21(7): 736-42, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23188044
8.
Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.
Eur J Med Genet
; 55(1): 8-11, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21872685
9.
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.
Nat Genet
; 41(3): 359-64, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19234473