Detalhe da pesquisa
1.
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Nat Genet
; 40(9): 1113-8, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18711368
2.
Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - a German survey.
Clin Endocrinol (Oxf)
; 75(6): 760-5, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21645025
3.
Aortopulmonary window.
Eur Heart J
; 33(10): 1200, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21937480
4.
Varicella-related deaths in children and adolescents--Germany 2003-2004.
Acta Paediatr
; 97(2): 187-92, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18076716
5.
A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.
Am J Hum Genet
; 80(3): 433-40, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17273964
6.
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.
Am J Hum Genet
; 80(3): 550-60, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17273977