Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Bertrand Isidor

Showing results (41-50 of 365) with videos related to

Pageof 37
Sort By:
European Journal of Human Genetics : EJHG|July 31, 2014
Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disabilitySarah Vergult, Annelies Dheedene, Alfred Meurs, et al.
American Journal of Medical Genetics. Part A|May 12, 2012
De novo duplication and deletions at 7q in a three-generation familyBertrand Isidor, Olaya Villa, Olivier Pichon, et al.
European Journal of Medical Genetics|August 2, 2008
Complex constitutional subtelomeric 1p36.3 deletion/duplication in a mentally retarded child with neonatal neuroblastomaBertrand Isidor, Martine Le Cunff, Michelle Boceno, et al.
American Journal of Respiratory and Critical Care Medicine|June 13, 2019
Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental DisordersMarie Vincent, Justyna A Karolak, Gail Deutsch, et al.
European Journal of Medical Genetics|February 20, 2008
Inherited 18q23 duplication in a fetus with multiple congenital anomaliesBertrand Isidor, Norbert Winer, Madeleine Joubert, et al.
Journal of Human Genetics|May 27, 2016
De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal refluxAtsushi Fujita, Bertrand Isidor, Hugues Piloquet, et al.
Hormone Research in Paediatrics|January 26, 2025
Real-World Safety and Effectiveness of Vosoritide in Children with Achondroplasia: French Early Access ProgramValérie Cormier-Daire, Thomas Edouard, Bertrand Isidor, et al.
Neurology. Genetics|February 24, 2018
Duplications at 19q13.33 in patients with neurodevelopmental disordersEduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, et al.
Orphanet Journal of Rare Diseases|March 13, 2021
First French study relative to preconception genetic testing: 1500 general population participants' opinionValérie Bonneau, Mathilde Nizon, Xenia Latypova, et al.
Journal of Human Genetics|May 10, 2019
Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitisAnne Molitor, Tony Prud'homme, Zhichao Miao, et al.
Pageof 37

Showing results (41-50 of 365) with videos related to

Sort By:
Pageof 37
European Journal of Human Genetics : EJHG|July 31, 2014
Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disabilitySarah Vergult, Annelies Dheedene, Alfred Meurs, et al.
American Journal of Medical Genetics. Part A|May 12, 2012
De novo duplication and deletions at 7q in a three-generation familyBertrand Isidor, Olaya Villa, Olivier Pichon, et al.
European Journal of Medical Genetics|August 2, 2008
Complex constitutional subtelomeric 1p36.3 deletion/duplication in a mentally retarded child with neonatal neuroblastomaBertrand Isidor, Martine Le Cunff, Michelle Boceno, et al.
American Journal of Respiratory and Critical Care Medicine|June 13, 2019
Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental DisordersMarie Vincent, Justyna A Karolak, Gail Deutsch, et al.
European Journal of Medical Genetics|February 20, 2008
Inherited 18q23 duplication in a fetus with multiple congenital anomaliesBertrand Isidor, Norbert Winer, Madeleine Joubert, et al.
Journal of Human Genetics|May 27, 2016
De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal refluxAtsushi Fujita, Bertrand Isidor, Hugues Piloquet, et al.
Hormone Research in Paediatrics|January 26, 2025
Real-World Safety and Effectiveness of Vosoritide in Children with Achondroplasia: French Early Access ProgramValérie Cormier-Daire, Thomas Edouard, Bertrand Isidor, et al.
Neurology. Genetics|February 24, 2018
Duplications at 19q13.33 in patients with neurodevelopmental disordersEduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, et al.
Orphanet Journal of Rare Diseases|March 13, 2021
First French study relative to preconception genetic testing: 1500 general population participants' opinionValérie Bonneau, Mathilde Nizon, Xenia Latypova, et al.
Journal of Human Genetics|May 10, 2019
Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitisAnne Molitor, Tony Prud'homme, Zhichao Miao, et al.
Pageof 37