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Bertrand Isidor

Showing results (151-160 of 365) with videos related to

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American Journal of Human Genetics|May 22, 2012
Cantú syndrome is caused by mutations in ABCC9Bregje W M van Bon, Christian Gilissen, Dorothy K Grange, et al.
European Journal of Human Genetics : EJHG|June 13, 2019
Searching for secondary findings: considering actionability and preserving the right not to knowBertrand Isidor, Sophie Julia, Pascale Saugier-Veber, et al.
European Journal of Human Genetics : EJHG|June 15, 2017
Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?Jessica Le Gall, Mathilde Nizon, Olivier Pichon, et al.
Genome Medicine|July 21, 2017
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disabilityClaudio Reggiani, Sandra Coppens, Tayeb Sekhara, et al.
American Journal of Medical Genetics. Part A|September 23, 2023
Growth charts in DYRK1A syndromePierre-Louis Lanvin, Thomas Goronflot, Bertrand Isidor, et al.
Human Genetics|July 6, 2018
Expanding the phenotype of the X-linked BCOR microphthalmia syndromesNicola Ragge, Bertrand Isidor, Pierre Bitoun, et al.
Clinical Genetics|January 4, 2020
Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patientLuisa Marsili, Eline Overwater, Nadine Hanna, et al.
American Journal of Human Genetics|March 21, 2020
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental DisorderFrancesca Mattioli, Gaelle Hayot, Nathalie Drouot, et al.
Human Mutation|June 24, 2019
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosisNicolas Chatron, Kevin Cassinari, Olivier Quenez, et al.
Journal of Medical Genetics|August 28, 2019
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practiceAia Elise Jønch, Elise Douard, Clara Moreau, et al.
Pageof 37

Showing results (151-160 of 365) with videos related to

Sort By:
Pageof 37
American Journal of Human Genetics|May 22, 2012
Cantú syndrome is caused by mutations in ABCC9Bregje W M van Bon, Christian Gilissen, Dorothy K Grange, et al.
European Journal of Human Genetics : EJHG|June 13, 2019
Searching for secondary findings: considering actionability and preserving the right not to knowBertrand Isidor, Sophie Julia, Pascale Saugier-Veber, et al.
European Journal of Human Genetics : EJHG|June 15, 2017
Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?Jessica Le Gall, Mathilde Nizon, Olivier Pichon, et al.
Genome Medicine|July 21, 2017
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disabilityClaudio Reggiani, Sandra Coppens, Tayeb Sekhara, et al.
American Journal of Medical Genetics. Part A|September 23, 2023
Growth charts in DYRK1A syndromePierre-Louis Lanvin, Thomas Goronflot, Bertrand Isidor, et al.
Human Genetics|July 6, 2018
Expanding the phenotype of the X-linked BCOR microphthalmia syndromesNicola Ragge, Bertrand Isidor, Pierre Bitoun, et al.
Clinical Genetics|January 4, 2020
Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patientLuisa Marsili, Eline Overwater, Nadine Hanna, et al.
American Journal of Human Genetics|March 21, 2020
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental DisorderFrancesca Mattioli, Gaelle Hayot, Nathalie Drouot, et al.
Human Mutation|June 24, 2019
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosisNicolas Chatron, Kevin Cassinari, Olivier Quenez, et al.
Journal of Medical Genetics|August 28, 2019
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practiceAia Elise Jønch, Elise Douard, Clara Moreau, et al.
Pageof 37