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1.
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.
Am J Hum Genet
; 110(1): 146-160, 2023 01 05.
Article
in English
| MEDLINE | ID: mdl-36608681
2.
Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo.
Mol Psychiatry
; 28(4): 1527-1544, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36717740
3.
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 338-355, 2020 03 05.
Article
in English
| MEDLINE | ID: mdl-32109419
4.
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
Am J Med Genet A
; 191(7): 1722-1740, 2023 07.
Article
in English
| MEDLINE | ID: mdl-36987741
5.
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Genet Med
; 23(6): 1028-1040, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33658631
6.
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Hum Mutat
; 41(5): 1042-1050, 2020 05.
Article
in English
| MEDLINE | ID: mdl-32097528
7.
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.
Genet Med
; 22(11): 1863-1873, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32699352
8.
Trisomy 4 mosaicism: Delineation of the phenotype.
Am J Med Genet A
; 170A(4): 1040-5, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26789019
9.
Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups.
Am J Med Genet A
; 170(9): 2248-60, 2016 09.
Article
in English
| MEDLINE | ID: mdl-27419809
10.
Pathogenetic Insights into Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders.
Brain Sci
; 13(12)2023 Nov 23.
Article
in English
| MEDLINE | ID: mdl-38137073
11.
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.
Neurology
; 100(6): e603-e615, 2023 02 07.
Article
in English
| MEDLINE | ID: mdl-36307226
12.
Thrombophilia testing for prevention of recurrent venous thromboembolism.
Cochrane Database Syst Rev
; 12: CD007069, 2012 Dec 12.
Article
in English
| MEDLINE | ID: mdl-23235639
13.
Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.
Eur J Paediatr Neurol
; 41: 91-98, 2022 Nov.
Article
in English
| MEDLINE | ID: mdl-36410285
14.
The effects of screening on health behaviour: a summary of the results of randomized controlled trials.
J Public Health (Oxf)
; 33(1): 71-9, 2011 Mar.
Article
in English
| MEDLINE | ID: mdl-20667898
15.
How to detect late-onset inborn errors of metabolism in patients with movement disorders - A modern diagnostic approach.
Parkinsonism Relat Disord
; 85: 124-132, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33745796
16.
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability.
Eur J Hum Genet
; 28(6): 763-769, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32157189
17.
Thrombophilia testing for prevention of recurrent venous thromboembolism.
Cochrane Database Syst Rev
; (1): CD007069, 2009 Jan 21.
Article
in English
| MEDLINE | ID: mdl-19160316
18.
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.
Eur J Hum Genet
; 26(1): 54-63, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29209020
19.
[Sickle cell disease in heel injection screening. II]. / Sikkelcelziekte in de hielprikscreening. II.
Ned Tijdschr Geneeskd
; 153(18): 858-61, 2009 May 02.
Article
in Dutch
| MEDLINE | ID: mdl-19475864
20.
Fever-Induced Paroxysmal Weakness and Encephalopathy (FIPWE)-Part of a Phenotypic Continuum in Patients With ATP1A3 Mutations?
Pediatr Neurol
; 81: 57-58, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29477659