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Martine Le Merrer

Showing results (61-70 of 113) 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.
Studies in Health Technology and Informatics|September 16, 2010
CEMARA an information system for rare diseasesPaul Landais, Claude Messiaen, Ana Rath, et al.
Studies in Health Technology and Informatics|May 20, 2008
CEMARA: a Web dynamic application within a N-tier architecture for rare diseasesClaude Messiaen, Loïc Le Mignot, Ana Rath, et al.
American Journal of Human Genetics|April 3, 2012
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosisCaroline Michot, Carine Le Goff, Alice Goldenberg, et al.
European Journal of Human Genetics : EJHG|November 30, 2006
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasiaAndreas Zankl, Gail C Jackson, Laureane Mittaz Crettol, et al.
American Journal of Human Genetics|January 1, 2013
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasiaCéline Huber, Eissa Ali Faqeih, Deborah Bartholdi, et al.
Nature Genetics|August 5, 2008
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulationCarine Le Goff, Fanny Morice-Picard, Nathalie Dagoneau, et al.
Journal of Medical Genetics|September 1, 2010
BBS10 mutations are common in 'Meckel'-type cystic kidneysAudrey Putoux, Soumaya Mougou-Zerelli, Sophie Thomas, et al.
American Journal of Medical Genetics|April 27, 2002
Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova SyndromeAlison M Elliott, Marie Gonzales, Jean-Claude Hoeffel, et al.
Human Mutation|October 31, 2009
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levelsCeline Huber, Mélanie Fradin, Thomas Edouard, et al.
Pageof 12

Showing results (61-70 of 113) with videos related to

Sort By:
Pageof 12
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.
Studies in Health Technology and Informatics|September 16, 2010
CEMARA an information system for rare diseasesPaul Landais, Claude Messiaen, Ana Rath, et al.
Studies in Health Technology and Informatics|May 20, 2008
CEMARA: a Web dynamic application within a N-tier architecture for rare diseasesClaude Messiaen, Loïc Le Mignot, Ana Rath, et al.
American Journal of Human Genetics|April 3, 2012
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosisCaroline Michot, Carine Le Goff, Alice Goldenberg, et al.
European Journal of Human Genetics : EJHG|November 30, 2006
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasiaAndreas Zankl, Gail C Jackson, Laureane Mittaz Crettol, et al.
American Journal of Human Genetics|January 1, 2013
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasiaCéline Huber, Eissa Ali Faqeih, Deborah Bartholdi, et al.
Nature Genetics|August 5, 2008
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulationCarine Le Goff, Fanny Morice-Picard, Nathalie Dagoneau, et al.
Journal of Medical Genetics|September 1, 2010
BBS10 mutations are common in 'Meckel'-type cystic kidneysAudrey Putoux, Soumaya Mougou-Zerelli, Sophie Thomas, et al.
American Journal of Medical Genetics|April 27, 2002
Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova SyndromeAlison M Elliott, Marie Gonzales, Jean-Claude Hoeffel, et al.
Human Mutation|October 31, 2009
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levelsCeline Huber, Mélanie Fradin, Thomas Edouard, et al.
Pageof 12