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Bertrand Isidor

Showing results (91-100 of 365) with videos related to

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European Journal of Human Genetics : EJHG|November 22, 2012
Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomasBertrand Isidor, Franck Bourdeaut, Delfine Lafon, et al.
Clinical Genetics|June 26, 2019
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature reviewVaroona Bizaoui, Caroline Michot, Geneviève Baujat, et al.
Human Mutation|June 12, 2019
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairmentAngélique Quartier, Jérémie Courraud, Thuong Thi Ha, 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.
Clinical Genetics|March 7, 2026
WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental PhenotypesElyssa Smith, Victor Faundes, Xiaonan Zhao, et al.
Molecular Autism|February 6, 2021
Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASDJoana Maria Almeida Osório, Borja Rodríguez-Herreros, David Romascano, et al.
Epilepsia|June 9, 2025
Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug-responsive epilepsy with favorable cognitive outcomeClément Pierret, Florence Riccardi, Julien Neveu, et al.
Frontiers in Neuroscience|September 4, 2023
The phenotypic presentation of adult individuals with <i>SLC6A1</i>-related neurodevelopmental disordersKatrine M Johannesen, Jimmi Nielsen, Anne Sabers, et al.
Nature Genetics|March 8, 2011
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosisBertrand Isidor, Pierre Lindenbaum, Olivier Pichon, et al.
Pediatric Blood & Cancer|September 17, 2015
Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion MutationsSolveig Heide, Julien Masliah-Planchon, Bertrand Isidor, et al.
Pageof 37

Showing results (91-100 of 365) with videos related to

Sort By:
Pageof 37
European Journal of Human Genetics : EJHG|November 22, 2012
Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomasBertrand Isidor, Franck Bourdeaut, Delfine Lafon, et al.
Clinical Genetics|June 26, 2019
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature reviewVaroona Bizaoui, Caroline Michot, Geneviève Baujat, et al.
Human Mutation|June 12, 2019
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairmentAngélique Quartier, Jérémie Courraud, Thuong Thi Ha, 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.
Clinical Genetics|March 7, 2026
WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental PhenotypesElyssa Smith, Victor Faundes, Xiaonan Zhao, et al.
Molecular Autism|February 6, 2021
Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASDJoana Maria Almeida Osório, Borja Rodríguez-Herreros, David Romascano, et al.
Epilepsia|June 9, 2025
Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug-responsive epilepsy with favorable cognitive outcomeClément Pierret, Florence Riccardi, Julien Neveu, et al.
Frontiers in Neuroscience|September 4, 2023
The phenotypic presentation of adult individuals with <i>SLC6A1</i>-related neurodevelopmental disordersKatrine M Johannesen, Jimmi Nielsen, Anne Sabers, et al.
Nature Genetics|March 8, 2011
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosisBertrand Isidor, Pierre Lindenbaum, Olivier Pichon, et al.
Pediatric Blood & Cancer|September 17, 2015
Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion MutationsSolveig Heide, Julien Masliah-Planchon, Bertrand Isidor, et al.
Pageof 37