Kolexia
Sukno-Dufour Sylvie Pédiatrie
Sukno-Dufour Sylvie
Pédiatrie
Hôpital Saint Vincent de Paul Lille
Lille, France
25 Activités
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Scientifique
Digital
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{{person.topmesh1.name}} Déficience intellectuelle Amyotrophie spinale Épilepsie Prédisposition génétique à une maladie Atrophie Amyotrophie Démence de Pick Myopathies congénitales structurales Délétion de segment de chromosome

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Bernard Claude
Bernard Claude
Hôpital Guy Chatiliez, Tourcoing, France
Trocme-Goldenberg Alice
Trocme-Goldenberg Alice
Hôpital Charles Nicolle, Rouen, France
Gerard Benedicte
Gerard Benedicte
Lbm Eurofins Biomnis Lyon 7, Lyon, France
Delobel Bruno
Delobel Bruno
Hôpital Saint Vincent de Paul Lille, Lille, France

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UCB
1 collaboration(s)
Dernière en 2023
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Dernières activités

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The KCNB1 phenotypic and genetic spectrum
34\u003csup\u003eth\u003c/sup\u003e International Epilepsy Congress Virtual 28 August – 1 September 2021   03 novembre 2021
Children and adolescents with epilepsy in rehabilitation centers: A French prospective transversal study.
Epilepsy & behavior : E&B   24 janvier 2020
mutation is a major gene inintellectual disability
Abstracts from the 50th European Society of Human Genetics Conference   01 juillet 2019
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
Clinical genetics   17 mai 2018
CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability.
Molecular metabolism   16 mai 2018
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.
Journal of neurology   15 juillet 2017
Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report.
Journal of medical case reports   06 septembre 2016
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Journal of medical genetics   28 août 2014
Multicentric study of medical care and practices in spinal muscular atrophy type 1 over two 10-year periods.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie   12 mars 2014
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.
European journal of human genetics : EJHG   20 juin 2012