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Isabelle Coupry

Showing results (1-10 of 27) with videos related to

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Archives of Ophthalmology (Chicago, Ill. : 1960)|April 14, 2010
Ophthalmological features associated with COL4A1 mutationsIsabelle Coupry, Igor Sibon, Bruno Mortemousque, et al.
European Journal of Human Genetics : EJHG|January 15, 2004
Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophyCyril Goizet, Isabelle Coupry, Caroline Rooryck, et al.
BMC Neurology|February 13, 2022
Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxiaChristelle M Durand, Chloé Angelini, Vincent Michaud, et al.
Human Mutation|February 20, 2004
Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCRIsabelle Coupry, Laurence Monnet, Azza Abd El Moneim Attia, et al.
The Journal of Investigative Dermatology|October 19, 2007
Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndromeThomas Jouary, Cyril Goizet, Isabelle Coupry, et al.
American Journal of Medical Genetics. Part A|July 8, 2005
X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaNicolas Chassaing, Virginie Siani, Dominique Carles, et al.
Annals of Neurology|August 19, 2007
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and strokeIgor Sibon, Isabelle Coupry, Patrice Menegon, et al.
European Journal of Human Genetics : EJHG|May 3, 2007
Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patientsMarianne Stef, Delphine Simon, Béatrice Mardirossian, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|November 3, 2012
Heterogeneity of platelet functional alterations in patients with filamin A mutationsEliane Berrou, Frédéric Adam, Marilyne Lebret, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|April 22, 2017
Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin α<sub>IIb</sub>β<sub>3</sub> ActivationEliane Berrou, Frédéric Adam, Marilyne Lebret, et al.
Pageof 3

Showing results (1-10 of 27) with videos related to

Sort By:
Pageof 3
Archives of Ophthalmology (Chicago, Ill. : 1960)|April 14, 2010
Ophthalmological features associated with COL4A1 mutationsIsabelle Coupry, Igor Sibon, Bruno Mortemousque, et al.
European Journal of Human Genetics : EJHG|January 15, 2004
Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophyCyril Goizet, Isabelle Coupry, Caroline Rooryck, et al.
BMC Neurology|February 13, 2022
Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxiaChristelle M Durand, Chloé Angelini, Vincent Michaud, et al.
Human Mutation|February 20, 2004
Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCRIsabelle Coupry, Laurence Monnet, Azza Abd El Moneim Attia, et al.
The Journal of Investigative Dermatology|October 19, 2007
Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndromeThomas Jouary, Cyril Goizet, Isabelle Coupry, et al.
American Journal of Medical Genetics. Part A|July 8, 2005
X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaNicolas Chassaing, Virginie Siani, Dominique Carles, et al.
Annals of Neurology|August 19, 2007
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and strokeIgor Sibon, Isabelle Coupry, Patrice Menegon, et al.
European Journal of Human Genetics : EJHG|May 3, 2007
Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patientsMarianne Stef, Delphine Simon, Béatrice Mardirossian, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|November 3, 2012
Heterogeneity of platelet functional alterations in patients with filamin A mutationsEliane Berrou, Frédéric Adam, Marilyne Lebret, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|April 22, 2017
Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin α<sub>IIb</sub>β<sub>3</sub> ActivationEliane Berrou, Frédéric Adam, Marilyne Lebret, et al.
Pageof 3