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Bertrand Isidor

Showing results (191-200 of 365) with videos related to

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Journal of Medical Genetics|October 7, 2019
Increasing knowledge in <i>IGF1R</i> defects: lessons from 35 new patientsEloïse Giabicani, Marjolaine Willems, Virginie Steunou, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Novel syndromic neurodevelopmental disorder caused by <i>de novo</i> deletion of <i>CHASERR</i>, a long noncoding RNAVijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.
American Journal of Medical Genetics. Part A|June 9, 2012
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizuresGaelle Thierry, Claire Bénéteau, Olivier Pichon, et al.
American Journal of Human Genetics|November 4, 2017
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and MiceLara De Tomasi, Pierre David, Camille Humbert, et al.
Epilepsia|February 25, 2020
Biological concepts in human sodium channel epilepsies and their relevance in clinical practiceAndreas Brunklaus, Juanjiangmeng Du, Felix Steckler, et al.
Journal of Medical Genetics|February 24, 2026
Phenotypic description of a large French series of individuals with Potocki-Lupski syndromeAlicia Coudert, Pauline Le Tanno, William Dufour, et al.
Nature Genetics|April 2, 2013
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndromeLaura M McDonell, Ghayda M Mirzaa, Diana Alcantara, et al.
Epilepsia|March 16, 2024
Clinical and molecular characterization of patients with YWHAG-related epilepsyValentina Cetica, Tiziana Pisano, Gaetan Lesca, et al.
American Journal of Human Genetics|July 31, 2024
RNA variant assessment using transactivation and transdifferentiationEmmylou C Nicolas-Martinez, Olivia Robinson, Christian Pflueger, et al.
European Journal of Human Genetics : EJHG|May 7, 2015
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct faciesJianling Ji, Hane Lee, Bob Argiropoulos, et al.
Pageof 37

Showing results (191-200 of 365) with videos related to

Sort By:
Pageof 37
Journal of Medical Genetics|October 7, 2019
Increasing knowledge in <i>IGF1R</i> defects: lessons from 35 new patientsEloïse Giabicani, Marjolaine Willems, Virginie Steunou, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Novel syndromic neurodevelopmental disorder caused by <i>de novo</i> deletion of <i>CHASERR</i>, a long noncoding RNAVijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.
American Journal of Medical Genetics. Part A|June 9, 2012
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizuresGaelle Thierry, Claire Bénéteau, Olivier Pichon, et al.
American Journal of Human Genetics|November 4, 2017
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and MiceLara De Tomasi, Pierre David, Camille Humbert, et al.
Epilepsia|February 25, 2020
Biological concepts in human sodium channel epilepsies and their relevance in clinical practiceAndreas Brunklaus, Juanjiangmeng Du, Felix Steckler, et al.
Journal of Medical Genetics|February 24, 2026
Phenotypic description of a large French series of individuals with Potocki-Lupski syndromeAlicia Coudert, Pauline Le Tanno, William Dufour, et al.
Nature Genetics|April 2, 2013
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndromeLaura M McDonell, Ghayda M Mirzaa, Diana Alcantara, et al.
Epilepsia|March 16, 2024
Clinical and molecular characterization of patients with YWHAG-related epilepsyValentina Cetica, Tiziana Pisano, Gaetan Lesca, et al.
American Journal of Human Genetics|July 31, 2024
RNA variant assessment using transactivation and transdifferentiationEmmylou C Nicolas-Martinez, Olivia Robinson, Christian Pflueger, et al.
European Journal of Human Genetics : EJHG|May 7, 2015
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct faciesJianling Ji, Hane Lee, Bob Argiropoulos, et al.
Pageof 37