Detalhe da pesquisa
1.
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
J Med Genet
; 61(6): 578-585, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38290825
2.
Growth, body composition, and endocrine-metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies.
Am J Med Genet A
; 194(5): e63472, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38155610
3.
Clinical and radiological assessment of scoliosis in Koolen-de Vries syndrome.
Am J Med Genet A
; 191(9): 2346-2355, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37350176
4.
GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders.
J Neural Transm (Vienna)
; 130(3): 459-471, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36436153
5.
Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link.
Europace
; 26(1)2023 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38195854
6.
The role of the gut microbiota in patients with Kleefstra syndrome.
Am J Med Genet B Neuropsychiatr Genet
; 192(7-8): 124-138, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36630271
7.
Following Excitation/Inhibition Ratio Homeostasis from Synapse to EEG in Monogenetic Neurodevelopmental Disorders.
Genes (Basel)
; 13(2)2022 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35205434