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Martine Le Merrer

Showing results (41-50 of 113) with videos related to

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Hormone Research in Paediatrics|October 18, 2014
Efficacy and safety of growth hormone treatment in children with hypochondroplasia: comparison with an historical cohortGraziella Pinto, Valérie Cormier-Daire, Martine Le Merrer, et al.
American Journal of Medical Genetics. Part A|December 18, 2003
Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patientsLaurence Faivre, Valérie Cormier-Daire, Ian Young, et al.
Human Mutation|August 7, 2007
A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotypeAnne Moncla, Chantal Missirian, Pierre Cacciagli, et al.
American Journal of Medical Genetics|January 25, 2002
Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritanceGéraldine Viot, Didier Lacombe, Albert David, et al.
American Journal of Medical Genetics. Part A|April 1, 2004
Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicismLaurence Faivre, Martine Le Merrer, Serges Douvier, et al.
American Journal of Medical Genetics. Part A|June 9, 2012
Progressive polyepiphyseal dysplasia with arthropathy: a distinct disorder from idiopathic juvenile arthritis and pseudorheumatoid dysplasia?Bertrand Isidor, Sylvaine Poignant, Georges Picherot, et al.
Prenatal Diagnosis|September 30, 2006
A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disordersMarina Colombani, Nicole Laurent, Martine Le Merrer, et al.
American Journal of Medical Genetics. Part A|July 15, 2005
Should chromosome breakage studies be performed in patients with VACTERL association?Laurence Faivre, Marie France Portnoï, Gerard Pals, et al.
American Journal of Medical Genetics. Part A|November 5, 2003
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndromeLaurence Faivre, Hélène Dollfus, Stanislas Lyonnet, et al.
European Journal of Human Genetics : EJHG|February 24, 2005
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardationDavid Geneviève, Delphine Héron, Vincent El Ghouzzi, et al.
Pageof 12

Showing results (41-50 of 113) with videos related to

Sort By:
Pageof 12
Hormone Research in Paediatrics|October 18, 2014
Efficacy and safety of growth hormone treatment in children with hypochondroplasia: comparison with an historical cohortGraziella Pinto, Valérie Cormier-Daire, Martine Le Merrer, et al.
American Journal of Medical Genetics. Part A|December 18, 2003
Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patientsLaurence Faivre, Valérie Cormier-Daire, Ian Young, et al.
Human Mutation|August 7, 2007
A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotypeAnne Moncla, Chantal Missirian, Pierre Cacciagli, et al.
American Journal of Medical Genetics|January 25, 2002
Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritanceGéraldine Viot, Didier Lacombe, Albert David, et al.
American Journal of Medical Genetics. Part A|April 1, 2004
Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicismLaurence Faivre, Martine Le Merrer, Serges Douvier, et al.
American Journal of Medical Genetics. Part A|June 9, 2012
Progressive polyepiphyseal dysplasia with arthropathy: a distinct disorder from idiopathic juvenile arthritis and pseudorheumatoid dysplasia?Bertrand Isidor, Sylvaine Poignant, Georges Picherot, et al.
Prenatal Diagnosis|September 30, 2006
A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disordersMarina Colombani, Nicole Laurent, Martine Le Merrer, et al.
American Journal of Medical Genetics. Part A|July 15, 2005
Should chromosome breakage studies be performed in patients with VACTERL association?Laurence Faivre, Marie France Portnoï, Gerard Pals, et al.
American Journal of Medical Genetics. Part A|November 5, 2003
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndromeLaurence Faivre, Hélène Dollfus, Stanislas Lyonnet, et al.
European Journal of Human Genetics : EJHG|February 24, 2005
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardationDavid Geneviève, Delphine Héron, Vincent El Ghouzzi, et al.
Pageof 12