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Bertrand Isidor

Showing results (101-110 of 365) with videos related to

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Clinical Genetics|July 19, 2018
Novel SUZ12 mutations in Weaver-like syndromeEri Imagawa, Edoarda V A Albuquerque, Bertrand Isidor, et al.
NPJ Genomic Medicine|June 17, 2022
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil countsGiuliana Giannuzzi, Nicolas Chatron, Katrin Mannik, et al.
NPJ Genomic Medicine|May 24, 2023
Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil countsGiuliana Giannuzzi, Nicolas Chatron, Katrin Mannik, et al.
American Journal of Human Genetics|July 7, 2010
Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13Bertrand Isidor, Olivier Pichon, Richard Redon, et al.
European Journal of Human Genetics : EJHG|August 24, 2018
New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle SyndromeMathilde Pacault, Marie Vincent, Thomas Besnard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 15, 2023
A new neurodevelopmental disorder linked to heterozygous variants in UNC79Allan Bayat, Zhenjiang Liu, Sheng Luo, et al.
European Journal of Human Genetics : EJHG|February 19, 2020
A dominant vimentin variant causes a rare syndrome with premature agingBenjamin Cogné, Jamal-Eddine Bouameur, Gaëlle Hayot, et al.
European Journal of Human Genetics : EJHG|May 5, 2019
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new casesPatrick R Blackburn, Cinthya J Zepeda-Mendoza, Teresa M Kruisselbrink, et al.
Journal of Medical Genetics|July 26, 2023
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disordersKevin Riquin, Bertrand Isidor, Sandra Mercier, et al.
Neurosurgery|April 1, 2017
Understanding the Pathophysiology of Intracranial Aneurysm: The ICAN ProjectRomain Bourcier, Stéphanie Chatel, Emmanuelle Bourcereau, et al.
Pageof 37

Showing results (101-110 of 365) with videos related to

Sort By:
Pageof 37
Clinical Genetics|July 19, 2018
Novel SUZ12 mutations in Weaver-like syndromeEri Imagawa, Edoarda V A Albuquerque, Bertrand Isidor, et al.
NPJ Genomic Medicine|June 17, 2022
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil countsGiuliana Giannuzzi, Nicolas Chatron, Katrin Mannik, et al.
NPJ Genomic Medicine|May 24, 2023
Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil countsGiuliana Giannuzzi, Nicolas Chatron, Katrin Mannik, et al.
American Journal of Human Genetics|July 7, 2010
Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13Bertrand Isidor, Olivier Pichon, Richard Redon, et al.
European Journal of Human Genetics : EJHG|August 24, 2018
New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle SyndromeMathilde Pacault, Marie Vincent, Thomas Besnard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 15, 2023
A new neurodevelopmental disorder linked to heterozygous variants in UNC79Allan Bayat, Zhenjiang Liu, Sheng Luo, et al.
European Journal of Human Genetics : EJHG|February 19, 2020
A dominant vimentin variant causes a rare syndrome with premature agingBenjamin Cogné, Jamal-Eddine Bouameur, Gaëlle Hayot, et al.
European Journal of Human Genetics : EJHG|May 5, 2019
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new casesPatrick R Blackburn, Cinthya J Zepeda-Mendoza, Teresa M Kruisselbrink, et al.
Journal of Medical Genetics|July 26, 2023
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disordersKevin Riquin, Bertrand Isidor, Sandra Mercier, et al.
Neurosurgery|April 1, 2017
Understanding the Pathophysiology of Intracranial Aneurysm: The ICAN ProjectRomain Bourcier, Stéphanie Chatel, Emmanuelle Bourcereau, et al.
Pageof 37