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1.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Am J Hum Genet
; 108(6): 1053-1068, 2021 06 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33909990
2.
A Decision Aid to Support Vocational Rehabilitation Professionals Offering Tailored Care to Benefit Recipients with a Long-Term Work Disability: A Feasibility Study.
J Occup Rehabil
; 34(1): 128-140, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-37036619
3.
Return to work factors and vocational rehabilitation interventions for long-term, partially disabled workers: a modified Delphi study among vocational rehabilitation professionals.
BMC Public Health
; 22(1): 875, 2022 05 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35501737
4.
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Genet Med
; 23(2): 363-373, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33144681
5.
Guidelines in CHARGE syndrome and the missing link: Cranial imaging.
Am J Med Genet C Semin Med Genet
; 175(4): 450-464, 2017 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-29168326
6.
Tibia hemimelia in a patient with CHARGE syndrome: A rare but recurrent phenomenon.
Am J Med Genet A
; 188(3): 1000-1004, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34894067
7.
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Am J Med Genet A
; 173(7): 1739-1746, 2017 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-28498505
8.
Tailored vocational rehabilitation for people with a work disability pension in The Netherlands; an in-depth data analysis of the content and outcomes of vocational rehabilitation trajectories of the Social Security Institute.
Disabil Rehabil
; : 1-8, 2024 Mar 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-38515281
9.
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
Transl Psychiatry
; 12(1): 421, 2022 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36182950
10.
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
J Neuromuscul Dis
; 6(2): 241-258, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31127727
11.
Cerebellar Vermis and Midbrain Hypoplasia Upon Conditional Deletion of Chd7 from the Embryonic Mid-Hindbrain Region.
Front Neuroanat
; 11: 86, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-29046629
12.
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
Eur J Hum Genet
; 25(3): 308-314, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-28000701
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