Detalhe da pesquisa
1.
Children and adolescents with epilepsy in rehabilitation centers: A French prospective transversal study.
Epilepsy Behav
; 104(Pt A): 106898, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31986442
2.
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
J Med Genet
; 51(11): 724-36, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25167861
3.
Insights into genotype-phenotype correlations in spinal muscular atrophy: a retrospective study of 103 patients.
Muscle Nerve
; 43(1): 26-30, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21171094
4.
Characterization by array-CGH of an interstitial de novo tandem 6p21.2p22.1 duplication in a boy with epilepsy and developmental delay.
Eur J Med Genet
; 51(4): 373-81, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18463015
5.
CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability.
Mol Metab
; 13: 1-9, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29784605
6.
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.
J Neurol
; 264(8): 1791-1803, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28712002
7.
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.
Eur J Hum Genet
; 21(1): 82-8, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22713806
8.
Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.
Eur J Med Genet
; 52(5): 291-6, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19505601