Detalhe da pesquisa
1.
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
Hum Genet
; 140(7): 1011-1029, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33710394
2.
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Genet Med
; 23(11): 2122-2137, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34345025
3.
Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders.
Sci Rep
; 14(1): 11239, 2024 05 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38755281
4.
Healthcare and guidelines: a population-based survey of recorded medical problems and health surveillance for people with Down syndrome.
J Intellect Dev Disabil
; 36(2): 118-26, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21501111
5.
Ageing and health status in adults with intellectual disabilities: results of the European POMONA II study.
J Intellect Dev Disabil
; 36(1): 49-60, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21314593
6.
[Update on current care guidelines: appropriate treatment of medical problems associated with Down's syndrome]. / Downin oireyhtymään liittyvien lääketieteellisten ongelmien hyvä hoito.
Duodecim
; 127(4): 364-5, 2011.
Artigo
em Fi
| MEDLINE | ID: mdl-21442856
7.
Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders.
Mol Genet Genomic Med
; 9(12): e1703, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33982443
8.
Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
Eur J Hum Genet
; 28(4): 532, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31506600
9.
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
Eur J Hum Genet
; 27(8): 1235-1243, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30914828
10.
Sensory impairments and health concerns related to the degree of intellectual disability in people with Down syndrome.
Downs Syndr Res Pract
; 11(2): 78-83, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17048801
11.
Mental health, behaviour and intellectual abilities of people with Down syndrome.
Downs Syndr Res Pract
; 11(1): 37-43, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17048808
12.
Sampling and ethical issues in a multicenter study on health of people with intellectual disabilities.
J Clin Epidemiol
; 63(10): 1091-100, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20304607