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Bertrand Diebold

Showing results (1-10 of 9) with videos related to

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Neurogenetics|September 25, 2012
Refining the phenotype associated with MEF2C point mutationsThierry Bienvenu, Bertrand Diebold, Jamel Chelly, et al.
European Journal of Human Genetics : EJHG|June 13, 2013
Mutations in the C-terminus of CDKL5: proceed with cautionBertrand Diebold, Chloé Delépine, Svetlana Gataullina, et al.
The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry|August 4, 2025
Involvement of the brain orexin system in a familial form of anorexia nervosaCamille Verebi, Nicolas Lebrun, Philibert Duriez, et al.
Epilepsia|October 1, 2014
A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorderGaetano Terrone, Thierry Bienvenu, David Germanaud, et al.
Human Mutation|February 1, 2011
A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localizationTangui Le Guen, Yann Fichou, Juliette Nectoux, et al.
European Journal of Human Genetics : EJHG|December 6, 2017
Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndromeNicolas Lebrun, Irina Giurgea, Alice Goldenberg, et al.
Neurogenetics|August 25, 2010
A FOXG1 mutation in a boy with congenital variant of Rett syndromeTangui Le Guen, Nadia Bahi-Buisson, Juliette Nectoux, et al.
Gene|October 16, 2012
Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutationsLaure Raymond, Bertrand Diebold, Céline Leroux, et al.
American Journal of Medical Genetics. Part A|June 9, 2012
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationshipsNadia Bahi-Buisson, Nathalie Villeneuve, Emilie Caietta, et al.
Pageof 1

Showing results (1-10 of 9) with videos related to

Sort By:
Pageof 1
Neurogenetics|September 25, 2012
Refining the phenotype associated with MEF2C point mutationsThierry Bienvenu, Bertrand Diebold, Jamel Chelly, et al.
European Journal of Human Genetics : EJHG|June 13, 2013
Mutations in the C-terminus of CDKL5: proceed with cautionBertrand Diebold, Chloé Delépine, Svetlana Gataullina, et al.
The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry|August 4, 2025
Involvement of the brain orexin system in a familial form of anorexia nervosaCamille Verebi, Nicolas Lebrun, Philibert Duriez, et al.
Epilepsia|October 1, 2014
A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorderGaetano Terrone, Thierry Bienvenu, David Germanaud, et al.
Human Mutation|February 1, 2011
A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localizationTangui Le Guen, Yann Fichou, Juliette Nectoux, et al.
European Journal of Human Genetics : EJHG|December 6, 2017
Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndromeNicolas Lebrun, Irina Giurgea, Alice Goldenberg, et al.
Neurogenetics|August 25, 2010
A FOXG1 mutation in a boy with congenital variant of Rett syndromeTangui Le Guen, Nadia Bahi-Buisson, Juliette Nectoux, et al.
Gene|October 16, 2012
Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutationsLaure Raymond, Bertrand Diebold, Céline Leroux, et al.
American Journal of Medical Genetics. Part A|June 9, 2012
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationshipsNadia Bahi-Buisson, Nathalie Villeneuve, Emilie Caietta, et al.
Pageof 1