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Dominique Martin

Showing results (41-50 of 77) with videos related to

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Nature Genetics|March 8, 2011
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosisBertrand Isidor, Pierre Lindenbaum, Olivier Pichon, et al.
European Journal of Medical Genetics|October 16, 2012
Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotypeBénédicte Demeer, Joris Andrieux, Aline Receveur, et al.
Clinical Endocrinology|April 30, 2020
Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patientsCéline Mouly, Rosa Vargas-Poussou, Anne Lienhardt, et al.
Human Mutation|September 11, 2008
TCF4 deletions in Pitt-Hopkins SyndromeIrina Giurgea, Chantal Missirian, Pierre Cacciagli, et al.
Transplantation|May 7, 2013
Organ trafficking and transplant tourism: the role of global professional ethical standards-the 2008 Declaration of IstanbulGabriel M Danovitch, Jeremy Chapman, Alexander M Capron, et al.
European Journal of Human Genetics : EJHG|March 17, 2005
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohortHaifa Hichri, Corinne Stoetzel, Virginie Laurier, et al.
American Journal of Medical Genetics. Part A|February 13, 2013
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasiaJulie Plaisancié, Isabelle Bailleul-Forestier, Véronique Gaston, et al.
European Journal of Medical Genetics|November 3, 2009
Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French seriesSylvie Jaillard, Séverine Drunat, Claude Bendavid, et al.
European Journal of Medical Genetics|November 25, 2010
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardationChristèle Dubourg, Damien Sanlaville, Martine Doco-Fenzy, et al.
Journal of Medical Genetics|April 14, 2012
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer casesJoyce El Hokayem, Céline Huber, Adeline Couvé, et al.
Pageof 8

Showing results (41-50 of 77) with videos related to

Sort By:
Pageof 8
Nature Genetics|March 8, 2011
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosisBertrand Isidor, Pierre Lindenbaum, Olivier Pichon, et al.
European Journal of Medical Genetics|October 16, 2012
Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotypeBénédicte Demeer, Joris Andrieux, Aline Receveur, et al.
Clinical Endocrinology|April 30, 2020
Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patientsCéline Mouly, Rosa Vargas-Poussou, Anne Lienhardt, et al.
Human Mutation|September 11, 2008
TCF4 deletions in Pitt-Hopkins SyndromeIrina Giurgea, Chantal Missirian, Pierre Cacciagli, et al.
Transplantation|May 7, 2013
Organ trafficking and transplant tourism: the role of global professional ethical standards-the 2008 Declaration of IstanbulGabriel M Danovitch, Jeremy Chapman, Alexander M Capron, et al.
European Journal of Human Genetics : EJHG|March 17, 2005
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohortHaifa Hichri, Corinne Stoetzel, Virginie Laurier, et al.
American Journal of Medical Genetics. Part A|February 13, 2013
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasiaJulie Plaisancié, Isabelle Bailleul-Forestier, Véronique Gaston, et al.
European Journal of Medical Genetics|November 3, 2009
Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French seriesSylvie Jaillard, Séverine Drunat, Claude Bendavid, et al.
European Journal of Medical Genetics|November 25, 2010
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardationChristèle Dubourg, Damien Sanlaville, Martine Doco-Fenzy, et al.
Journal of Medical Genetics|April 14, 2012
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer casesJoyce El Hokayem, Céline Huber, Adeline Couvé, et al.
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