Detalhe da pesquisa
1.
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Genet Med
; 25(11): 100950, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37551667
2.
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Clin Genet
; 104(2): 186-197, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165752
3.
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
Am J Hum Genet
; 104(4): 758-766, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929739
4.
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Genet Med
; 24(6): 1283-1296, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35346573
5.
DLG4-related synaptopathy: a new rare brain disorder.
Genet Med
; 23(5): 888-899, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597769
6.
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.
J Med Genet
; 53(8): 523-32, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27075013
7.
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Am J Hum Genet
; 92(2): 210-20, 2013 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23332918
8.
A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms.
J Med Genet
; 47(4): 271-5, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19752158
9.
Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital.
Front Pediatr
; 9: 600556, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34136434
10.
Recontacting in light of new genetic diagnostic techniques for patients with intellectual disability: Feasibility and parental perspectives.
Eur J Med Genet
; 61(4): 213-218, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29191497
11.
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
Eur J Hum Genet
; 24(5): 652-9, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26306646
12.
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
Eur J Hum Genet
; 23(6): 803-7, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25205402