Detalhe da pesquisa
1.
The etiological evaluation of sensorineural hearing loss in children.
Eur J Pediatr
; 178(8): 1195-1205, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31152317
2.
Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy.
Clin Genet
; 94(2): 221-231, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29676012
3.
Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1.
Clin Genet
; 87(2): 141-7, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24597975
4.
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
J Med Genet
; 50(7): 463-72, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23644449
5.
Clinical features and X-inactivation in females heterozygous for creatine transporter defect.
Clin Genet
; 79(3): 264-72, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20528887
6.
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.
Mol Genet Metab
; 93(2): 104-11, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18024218
7.
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.
J Med Genet
; 44(4): 277-80, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17158594
8.
Evaluation of the outcome of CT and MR imaging in pediatric patients with bilateral sensorineural hearing loss.
Int J Pediatr Otorhinolaryngol
; 108: 180-185, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29605351
9.
High prevalence of abnormalities on CT and MR imaging in children with unilateral sensorineural hearing loss irrespective of age or degree of hearing loss.
Int J Pediatr Otorhinolaryngol
; 97: 185-191, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28483233
10.
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.
Eur J Med Genet
; 60(9): 465-473, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28642162
11.
The first case of fatal familial insomnia (FFI) in the Netherlands: a patient from Egyptian descent with concurrent four repeat tau deposits.
Neuropathol Appl Neurobiol
; 37(5): 549-53, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20874730
12.
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.
Eur J Med Genet
; 55(6-7): 404-13, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22522176
13.
Bifurcation of the femur with tibial agenesis and additional anomalies.
Am J Med Genet A
; 138(1): 45-50, 2005 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16100723