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Showing results (711-720 of 885) with videos related to

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Neurology|May 31, 2007
Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?R Ben Yaou, A Toutain, T Arimura, et al.
Molecular Genetics & Genomic Medicine|February 8, 2019
Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disordersSiddharth Srivastava, Tejasvi Niranjan, Melanie M May, et al.
American Journal of Medical Genetics. Part A|April 10, 2014
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutationsBertrand Isidor, Tiphaine Lefebvre, Claudine Le Vaillant, et al.
Journal of Visceral Surgery|March 6, 2024
Management of adult intestinal stomas: The 2023 French guidelinesMathilde Aubert, Etienne Buscail, Emilie Duchalais, et al.
Behavior Genetics|January 12, 2013
Xq27 FRAXA locus is a strong candidate for dyslexia: evidence from a genome-wide scan in French familiesM Huc-Chabrolle, C Charon, A Guilmatre, et al.
Neuro-Oncology|November 2, 2012
Detection of glioblastoma response to temozolomide combined with bevacizumab based on μMRI and μPET imaging reveals [18F]-fluoro-L-thymidine as an early and robust predictive marker for treatment efficacyAurélien Corroyer-Dulmont, Elodie A Pérès, Edwige Petit, et al.
American Journal of Human Genetics|October 12, 2001
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structuresJ Amiel, Y Espinosa-Parrilla, J Steffann, et al.
European Journal of Human Genetics : EJHG|October 9, 2019
Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene clusterCédric Le Caignec, Olivier Pichon, Annaig Briand, et al.
Nature Communications|January 10, 2026
Single-cell multiplex approaches deeply map ON-target CRISPR-genotoxicity and reveal its mitigation by palbociclib and long-term engraftmentJulian Boutin, Sabrina Fayet, Victor Marin, et al.
Human Mutation|April 12, 2018
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literatureMarie-Laure Vuillaume, Marie-Pierre Moizard, Sylvie Rossignol, et al.
Pageof 89

Showing results (711-720 of 885) with videos related to

Sort By:
Pageof 89
Neurology|May 31, 2007
Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?R Ben Yaou, A Toutain, T Arimura, et al.
Molecular Genetics & Genomic Medicine|February 8, 2019
Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disordersSiddharth Srivastava, Tejasvi Niranjan, Melanie M May, et al.
American Journal of Medical Genetics. Part A|April 10, 2014
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutationsBertrand Isidor, Tiphaine Lefebvre, Claudine Le Vaillant, et al.
Journal of Visceral Surgery|March 6, 2024
Management of adult intestinal stomas: The 2023 French guidelinesMathilde Aubert, Etienne Buscail, Emilie Duchalais, et al.
Behavior Genetics|January 12, 2013
Xq27 FRAXA locus is a strong candidate for dyslexia: evidence from a genome-wide scan in French familiesM Huc-Chabrolle, C Charon, A Guilmatre, et al.
Neuro-Oncology|November 2, 2012
Detection of glioblastoma response to temozolomide combined with bevacizumab based on μMRI and μPET imaging reveals [18F]-fluoro-L-thymidine as an early and robust predictive marker for treatment efficacyAurélien Corroyer-Dulmont, Elodie A Pérès, Edwige Petit, et al.
American Journal of Human Genetics|October 12, 2001
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structuresJ Amiel, Y Espinosa-Parrilla, J Steffann, et al.
European Journal of Human Genetics : EJHG|October 9, 2019
Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene clusterCédric Le Caignec, Olivier Pichon, Annaig Briand, et al.
Nature Communications|January 10, 2026
Single-cell multiplex approaches deeply map ON-target CRISPR-genotoxicity and reveal its mitigation by palbociclib and long-term engraftmentJulian Boutin, Sabrina Fayet, Victor Marin, et al.
Human Mutation|April 12, 2018
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literatureMarie-Laure Vuillaume, Marie-Pierre Moizard, Sylvie Rossignol, et al.
Pageof 89