Detalhe da pesquisa
1.
Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects.
Am J Hum Genet
; 89(6): 773-81, 2011 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22152679
2.
Genetic inactivation of prokineticin receptor-1 leads to heart and kidney disorders.
Arterioscler Thromb Vasc Biol
; 31(4): 842-50, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21273561
3.
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Nephron Physiol
; 122(1-2): 1-6, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23434854
4.
Rare dentin defects: Understanding the pathophysiological mechanisms of COLXVA1 mutations.
Genes Dis
; 11(5): 101303, 2024 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-38721411
5.
A possible cranio-oro-facial phenotype in Cockayne syndrome.
Orphanet J Rare Dis
; 8: 9, 2013 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-23311583