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Pierre Lindenbaum

Showing results (31-40 of 43) with videos related to

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Cardiovascular Research|January 9, 2026
Identification of rare missense variants reducing cathepsin O secretion in families with intracranial aneurysmMilène Freneau, Raphael Blanchet, Maxence Bodet, 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.
American Journal of Human Genetics|November 26, 2013
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosisSandra Mercier, Sébastien Küry, Gasnat Shaboodien, et al.
American Journal of Human Genetics|October 22, 2019
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short StatureCedric Le Caignec, Benjamin Ory, François Lamoureux, et al.
Human Mutation|January 12, 2016
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual DisabilityBertrand Isidor, Sébastien Küry, Jill A Rosenfeld, et al.
Medrxiv : the Preprint Server for Health Sciences|November 1, 2024
Isolated prolapse of the posterior mitral valve leaflet: phenotypic refinement, heritability and genetic etiologyAntoine Rimbert, Damien Duval, Daniel Trujillano, et al.
Nature Communications|April 20, 2024
TAD boundary deletion causes PITX2-related cardiac electrical and structural defectsManon Baudic, Hiroshige Murata, Fernanda M Bosada, et al.
Blood|June 13, 2018
Identification of a new <i>VHL</i> exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau diseaseMarion Lenglet, Florence Robriquet, Klaus Schwarz, et al.
Nature Genetics|July 23, 2013
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac deathConnie R Bezzina, Julien Barc, Yuka Mizusawa, et al.
Journal of Biomedical Semantics|February 13, 2013
The 3rd DBCLS BioHackathon: improving life science data integration with Semantic Web technologiesToshiaki Katayama, Mark D Wilkinson, Gos Micklem, et al.
Pageof 5

Showing results (31-40 of 43) with videos related to

Sort By:
Pageof 5
Cardiovascular Research|January 9, 2026
Identification of rare missense variants reducing cathepsin O secretion in families with intracranial aneurysmMilène Freneau, Raphael Blanchet, Maxence Bodet, 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.
American Journal of Human Genetics|November 26, 2013
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosisSandra Mercier, Sébastien Küry, Gasnat Shaboodien, et al.
American Journal of Human Genetics|October 22, 2019
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short StatureCedric Le Caignec, Benjamin Ory, François Lamoureux, et al.
Human Mutation|January 12, 2016
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual DisabilityBertrand Isidor, Sébastien Küry, Jill A Rosenfeld, et al.
Medrxiv : the Preprint Server for Health Sciences|November 1, 2024
Isolated prolapse of the posterior mitral valve leaflet: phenotypic refinement, heritability and genetic etiologyAntoine Rimbert, Damien Duval, Daniel Trujillano, et al.
Nature Communications|April 20, 2024
TAD boundary deletion causes PITX2-related cardiac electrical and structural defectsManon Baudic, Hiroshige Murata, Fernanda M Bosada, et al.
Blood|June 13, 2018
Identification of a new <i>VHL</i> exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau diseaseMarion Lenglet, Florence Robriquet, Klaus Schwarz, et al.
Nature Genetics|July 23, 2013
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac deathConnie R Bezzina, Julien Barc, Yuka Mizusawa, et al.
Journal of Biomedical Semantics|February 13, 2013
The 3rd DBCLS BioHackathon: improving life science data integration with Semantic Web technologiesToshiaki Katayama, Mark D Wilkinson, Gos Micklem, et al.
Pageof 5