Detalhe da pesquisa
1.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
J Med Genet
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38471765
2.
Fatal gastrointestinal complications in Pitt-Hopkins syndrome.
Am J Med Genet A
; 191(3): 855-858, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36511359
3.
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
Brain
; 143(12): 3564-3573, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33242881
4.
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.
Hum Genet
; 139(5): 575-592, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32193685
5.
Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.
Am J Med Genet A
; 173(5): 1172-1185, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28190301
6.
Behaviour in Cornelia de Lange syndrome: a systematic review.
Dev Med Child Neurol
; 59(4): 361-366, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27988966
7.
High rate of mosaicism in individuals with Cornelia de Lange syndrome.
J Med Genet
; 50(5): 339-44, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23505322
8.
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.
HGG Adv
; 5(3): 100289, 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38571311
9.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
HGG Adv
; 5(3): 100287, 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38553851
10.
Six-minute walk test in patients with Down syndrome: validity and reproducibility.
Arch Phys Med Rehabil
; 90(8): 1423-7, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19651279
11.
[Primary health care for people with an intellectual disability; room for improvement]. / Eerstelijnszorg bij verstandelijk beperking kan beter.
Ned Tijdschr Geneeskd
; 1622018 Jul 27.
Artigo
em Holandês
| MEDLINE | ID: mdl-30182622
12.
Thyroid function in males with fragile X syndrome.
J Pediatr Endocrinol Metab
; 32(8): 903-905, 2019 Aug 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31280236
13.
Functional analysis of novel genetic variation in the thyroid hormone activating type 2 deiodinase.
J Clin Endocrinol Metab
; 99(11): E2429-36, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25140401
14.
'The sedentary heart': physical inactivity is associated with cardiac atrophy in adults with an intellectual disability.
Int J Cardiol
; 158(3): 387-93, 2012 Jul 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-21353712
15.
Congenital heart defects are under-recognised in adult patients with Down's syndrome.
Heart
; 96(18): 1480-4, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20643661