Detalhe da pesquisa
1.
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.
J Med Genet
; 59(5): 505-510, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811134
2.
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Am J Hum Genet
; 105(3): 493-508, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31447100
3.
Sleep-disordered breathing and nocturnal hypoventilation in children with the MECP2 duplication syndrome: A case series and review of the literature.
Am J Med Genet A
; 182(10): 2437-2441, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32830419
4.
Pseudomonas aeruginosa in children with cerebral palsy: a prospective study.
Front Pediatr
; 11: 1267345, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38027271
5.
Prevalence of cerebral palsy and factors associated with cerebral palsy subtype: A population-based study in Belgium.
Eur J Paediatr Neurol
; 46: 8-23, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37364404
6.
Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?
JIMD Rep
; 59(1): 90-103, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33977034
7.
Epilepsy in children with Down syndrome: not so benign as generally accepted.
Acta Neurol Belg
; 115(4): 569-73, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25894349
8.
Spontaneous spinal epidural hematoma in infancy: review of the literature and the "seventh" case report.
Eur J Paediatr Neurol
; 17(6): 537-42, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23786707
9.
Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.
Autism Res
; 5(4): 277-81, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22689534
10.
Opisthotonus and intrathecal treatment with baclofen (ITB) in children.
Eur J Pediatr
; 167(6): 641-5, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17717703