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Stanislas Lyonnet

Showing results (91-100 of 260) with videos related to

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Journal of Biomedical Informatics|October 18, 2019
Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtypingXiaoyi Chen, Nicolas Garcelon, Antoine Neuraz, et al.
The Journal of Investigative Dermatology|August 8, 2002
Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28Lekbir Baala, Smaïl Hadj-Rabia, Dominique Hamel-Teillac, et al.
Orphanet Journal of Rare Diseases|May 6, 2011
Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in FranceTu Anh Duong, Emilie Sbidian, Laurence Valeyrie-Allanore, et al.
European Journal of Cancer (Oxford, England : 1990)|September 4, 2007
Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastomaLoïc de Pontual, Delphine Trochet, Franck Bourdeaut, et al.
European Journal of Human Genetics : EJHG|October 16, 2008
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearanceJill Clayton-Smith, Sarah Walters, Emma Hobson, et al.
Journal of Neural Transmission (Vienna, Austria : 1996)|January 31, 2023
Neurodevelopmental disorders (NDD) without boundaries: research and interventions beyond classificationsCécile Louveau, Pierre Ellul, Anton Iftimovici, et al.
European Journal of Human Genetics : EJHG|May 19, 2022
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1Maya Chopra, Richard Caswell, Giulia Barcia, et al.
BMC Medical Informatics and Decision Making|May 24, 2024
Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathiesCarole Faviez, Xiaoyi Chen, Nicolas Garcelon, et al.
Nature Genetics|April 16, 2002
Segregation at three loci explains familial and population risk in Hirschsprung diseaseStacey B Gabriel, Rémi Salomon, Anna Pelet, et al.
Prenatal Diagnosis|April 18, 2024
Artificial intelligence-based diagnosis in fetal pathology using external ear shapesQuentin Hennocq, Nicolas Garcelon, Thomas Bongibault, et al.
Pageof 26

Showing results (91-100 of 260) with videos related to

Sort By:
Pageof 26
Journal of Biomedical Informatics|October 18, 2019
Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtypingXiaoyi Chen, Nicolas Garcelon, Antoine Neuraz, et al.
The Journal of Investigative Dermatology|August 8, 2002
Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28Lekbir Baala, Smaïl Hadj-Rabia, Dominique Hamel-Teillac, et al.
Orphanet Journal of Rare Diseases|May 6, 2011
Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in FranceTu Anh Duong, Emilie Sbidian, Laurence Valeyrie-Allanore, et al.
European Journal of Cancer (Oxford, England : 1990)|September 4, 2007
Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastomaLoïc de Pontual, Delphine Trochet, Franck Bourdeaut, et al.
European Journal of Human Genetics : EJHG|October 16, 2008
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearanceJill Clayton-Smith, Sarah Walters, Emma Hobson, et al.
Journal of Neural Transmission (Vienna, Austria : 1996)|January 31, 2023
Neurodevelopmental disorders (NDD) without boundaries: research and interventions beyond classificationsCécile Louveau, Pierre Ellul, Anton Iftimovici, et al.
European Journal of Human Genetics : EJHG|May 19, 2022
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1Maya Chopra, Richard Caswell, Giulia Barcia, et al.
BMC Medical Informatics and Decision Making|May 24, 2024
Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathiesCarole Faviez, Xiaoyi Chen, Nicolas Garcelon, et al.
Nature Genetics|April 16, 2002
Segregation at three loci explains familial and population risk in Hirschsprung diseaseStacey B Gabriel, Rémi Salomon, Anna Pelet, et al.
Prenatal Diagnosis|April 18, 2024
Artificial intelligence-based diagnosis in fetal pathology using external ear shapesQuentin Hennocq, Nicolas Garcelon, Thomas Bongibault, et al.
Pageof 26