Detalhe da pesquisa
1.
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
Am J Hum Genet
; 95(6): 698-707, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25434003
2.
Mutations in MED12 cause X-linked Ohdo syndrome.
Am J Hum Genet
; 92(3): 401-6, 2013 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23395478
3.
Central 22q11.2 deletions.
Am J Med Genet A
; 164A(11): 2707-23, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25123976
4.
Periconceptional folic acid associated with an increased risk of oral clefts relative to non-folate related malformations in the Northern Netherlands: a population based case-control study.
Eur J Epidemiol
; 28(11): 875-87, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24092049
5.
Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study.
BMC Musculoskelet Disord
; 14: 323, 2013 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-24237863
6.
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.
J Med Genet
; 48(3): 160-7, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21113014
7.
The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.
Hum Mutat
; 32(10): 1100-7, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21681854
8.
MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions.
Am J Med Genet A
; 155A(11): 2739-45, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21990140
9.
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.
Hum Mutat
; 31(6): 656-66, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20340138
10.
Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature.
Am J Med Genet C Semin Med Genet
; 154C(1): 170-5, 2010 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20104609
11.
Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature.
Am J Med Genet C Semin Med Genet
; 154C(1): 158-69, 2010 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20104613
12.
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.
Eur J Hum Genet
; 27(5): 738-746, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30679813
13.
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.
Eur J Hum Genet
; 16(6): 673-9, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18231121
14.
Question mark ears and post-auricular tags.
Eur J Med Genet
; 51(3): 264-7, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18314001
15.
Ectrodactyly with fibular aplasia: a separate entity?
Eur J Med Genet
; 51(5): 488-96, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18547886
16.
Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.
Eur J Med Genet
; 50(5): 355-66, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17720647
17.
Delayed onset of ambulation in boys with Duchenne muscular dystrophy: Potential use as an endpoint in clinical trials.
Neuromuscul Disord
; 27(10): 905-910, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28739181
18.
Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation.
Circ Cardiovasc Genet
; 10(4)2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28790152
19.
Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature.
Eur J Paediatr Neurol
; 10(1): 11-7, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16504559
20.
Epilepsy in KCNH1-related syndromes.
Epileptic Disord
; 18(2): 123-36, 2016 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27267311