Detalhe da pesquisa
1.
Development and Function of Immune Cells in an Adolescent Patient With a Deficiency in the Interleukin-10 Receptor.
J Pediatr Gastroenterol Nutr
; 65(1): e5-e15, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28644354
2.
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Genet Med
; 17(11): 843-53, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25719457
3.
Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse.
Am J Med Genet A
; 164A(1): 113-9, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24243761
4.
Novel no-stop FLNA mutation causes multi-organ involvement in males.
Am J Med Genet A
; 161A(9): 2376-84, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23873601
5.
Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin.
J Biol Chem
; 291(43): 22848, 2016 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-27825086
6.
Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.
Hum Mutat
; 31(1): 52-9, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19830808
7.
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.
Hum Mutat
; 31(5): E1348-60, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20232353
8.
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
Eur J Hum Genet
; 16(8): 875-9, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18301443
9.
Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification.
Arch Neurol
; 65(3): 358-66, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18332248
10.
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.
Hum Mutat
; 27(7): 654-66, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16683254
11.
Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.
Eur J Hum Genet
; 13(1): 59-68, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15483652
12.
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.
Eur J Hum Genet
; 23(9): 1142-50, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25626705
13.
No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 18q21.1.
Am J Med Genet
; 114(6): 673-8, 2002 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-12210286
14.
Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review.
Eur J Paediatr Neurol
; 17(6): 666-70, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23755938
15.
Complete FXN deletion in a patient with Friedreich's ataxia.
Genet Test Mol Biomarkers
; 16(9): 1015-8, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22691228
16.
A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria.
Pediatr Neurol
; 45(1): 49-53, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21723461
17.
Combined cardiological and neurological abnormalities due to filamin A gene mutation.
Clin Res Cardiol
; 100(1): 45-50, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20730588
18.
Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism.
Eur J Hum Genet
; 19(9): 1009-12, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21487440
19.
Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients.
Eur J Hum Genet
; 19(2): 157-63, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20877415
20.
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.
Eur J Hum Genet
; 23(9): 1270, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26269248