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Martine Le Merrer

Showing results (81-90 of 113) with videos related to

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American Journal of Human Genetics|November 16, 2002
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1Orly Dgany, Nili Avidan, Jean Delaunay, et al.
European Journal of Human Genetics : EJHG|July 15, 2018
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasiaCaroline Michot, Carine Le Goff, Edward Blair, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
Mutation-based growth charts for SEDC and other COL2A1 related dysplasiasPaulien A Terhal, Paula van Dommelen, Martine Le Merrer, et al.
Circulation|December 10, 2009
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disordersDavid Attias, Chantal Stheneur, Carine Roy, 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.
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.
Prenatal Diagnosis|October 18, 2008
Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counselingBrigitte Simon-Bouy, Agnès Taillandier, Delphine Fauvert, et al.
Orphanet Journal of Rare Diseases|February 5, 2010
Retrospective French nationwide survey of childhood aggressive vascular anomalies of bone, 1988-2009Sébastien Héritier, Martine Le Merrer, Francis Jaubert, et al.
American Journal of Human Genetics|July 2, 2013
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophyChristel Thauvin-Robinet, Martine Auclair, Laurence Duplomb, et al.
American Journal of Human Genetics|January 25, 2005
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndromeHouda Karmous-Benailly, Jelena Martinovic, Marie-Claire Gubler, et al.
Pageof 12

Showing results (81-90 of 113) with videos related to

Sort By:
Pageof 12
American Journal of Human Genetics|November 16, 2002
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1Orly Dgany, Nili Avidan, Jean Delaunay, et al.
European Journal of Human Genetics : EJHG|July 15, 2018
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasiaCaroline Michot, Carine Le Goff, Edward Blair, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
Mutation-based growth charts for SEDC and other COL2A1 related dysplasiasPaulien A Terhal, Paula van Dommelen, Martine Le Merrer, et al.
Circulation|December 10, 2009
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disordersDavid Attias, Chantal Stheneur, Carine Roy, 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.
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.
Prenatal Diagnosis|October 18, 2008
Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counselingBrigitte Simon-Bouy, Agnès Taillandier, Delphine Fauvert, et al.
Orphanet Journal of Rare Diseases|February 5, 2010
Retrospective French nationwide survey of childhood aggressive vascular anomalies of bone, 1988-2009Sébastien Héritier, Martine Le Merrer, Francis Jaubert, et al.
American Journal of Human Genetics|July 2, 2013
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophyChristel Thauvin-Robinet, Martine Auclair, Laurence Duplomb, et al.
American Journal of Human Genetics|January 25, 2005
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndromeHouda Karmous-Benailly, Jelena Martinovic, Marie-Claire Gubler, et al.
Pageof 12