Detalhe da pesquisa
1.
Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations.
Am J Med Genet A
; 158A(2): 292-7, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22140078
2.
Phenotypic variability of atypical 22q11.2 deletions not including TBX1.
Am J Med Genet A
; 158A(10): 2412-20, 2012 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-22893440
3.
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.
Eur J Hum Genet
; 16(6): 673-9, 2008 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-18231121
4.
Another rare prenatal case of post-zygotic mosaic trisomy 17.
Am J Med Genet A
; 161A(5): 1196-9, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-23512336
5.
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.
J Exp Med
; 213(7): 1163-74, 2016 06 27.
Artigo
Inglês
| MEDLINE | ID: mdl-27325888
6.
Congenital conductive hearing loss in dyschondrosteosis.
Ann Otol Rhinol Laryngol
; 112(2): 153-8, 2003 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-12597288
7.
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.
Eur J Hum Genet
; 21(9): 936-42, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23321623
8.
Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities.
Mol Cytogenet
; 5(1): 14, 2012 Mar 13.
Artigo
Inglês
| MEDLINE | ID: mdl-22413963
9.
Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow.
Eur J Hum Genet
; 19(12): 1230-7, 2011 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-21694736
10.
Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect.
Mol Cytogenet
; 4(1): 27, 2011 Dec 02.
Artigo
Inglês
| MEDLINE | ID: mdl-22136596
11.
[Prenatally detected orofacial cleft]. / Prenataal vastgestelde orofaciale schisis.
Ned Tijdschr Geneeskd
; 153: B316, 2009.
Artigo
Holandês
| MEDLINE | ID: mdl-19785790
12.
New cases of Bohring-Opitz syndrome, update, and critical review of the literature.
Am J Med Genet A
; 140(12): 1257-63, 2006 Jun 15.
Artigo
Inglês
| MEDLINE | ID: mdl-16691589
13.
Plantar lipomatosis, unusual facies, and developmental delay: confirmation of Pierpont syndrome.
Am J Med Genet A
; 137(1): 77-80, 2005 Aug 15.
Artigo
Inglês
| MEDLINE | ID: mdl-16007632
14.
A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation.
Audiol Neurootol
; 9(1): 34-46, 2004.
Artigo
Inglês
| MEDLINE | ID: mdl-14676472