Detalhe da pesquisa
1.
Health care management adequacy among French persons with severe profound intellectual and multiple disabilities: a longitudinal study.
BMC Health Serv Res
; 24(1): 99, 2024 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38238747
2.
Parents' experiences of parenting a child with profound intellectual and multiple disabilities in France: A qualitative study.
Health Expect
; 2023 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37932892
3.
Nocturnal hypoxaemia and hypercapnia in children with neuromuscular disorders.
Eur Respir J
; 39(5): 1206-12, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22135279
4.
Early onset collagen VI myopathies: Genetic and clinical correlations.
Ann Neurol
; 68(4): 511-20, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20976770
5.
Congenital immobility and stiffness related to biallelic ATAD1 variants.
Neurol Genet
; 6(6): e520, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33134516
6.
Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model.
Am J Med Genet A
; 149A(3): 437-45, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19206177
7.
Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses.
Orphanet J Rare Dis
; 13(1): 209, 2018 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30463562
8.
Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial.
PLoS One
; 10(4): e0121799, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25861036
9.
Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial.
PLoS One
; 10(2): e0113999, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25643053
10.
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.
Eur J Hum Genet
; 21(8): 855-63, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23299919
11.
Dendritic cells for NK/LAK activation: rationale for multicellular immunotherapy in neuroblastoma patients.
Blood
; 100(7): 2554-61, 2002 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12239169
12.
Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene.
Am J Med Genet A
; 124A(4): 364-71, 2004 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-14735583