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Martine Le Merrer

Showing results (51-60 of 113) with videos related to

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Molecular Genetics and Metabolism|April 25, 2006
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patientsRuth Bargal, Marsha Zeigler, Bassam Abu-Libdeh, et al.
American Journal of Human Genetics|December 27, 2008
Mutations in DDR2 gene cause SMED with short limbs and abnormal calcificationsRuth Bargal, Valerie Cormier-Daire, Ziva Ben-Neriah, et al.
Nature Genetics|August 9, 2005
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndromeChristine Gicquel, Sylvie Rossignol, Sylvie Cabrol, et al.
Advances and Technical Standards in Neurosurgery|November 23, 2013
Craniovertebral junction anomalies in achondroplastic childrenVincent Reina, Genevieve Baujat, Brigitte Fauroux, et al.
American Journal of Medical Genetics. Part A|August 20, 2013
The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variabilityCybel Mehawej, Jean-Benoît Courcet, Geneviève Baujat, et al.
Human Molecular Genetics|January 30, 2003
Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndromeVincent El Ghouzzi, Nathalie Dagoneau, Esther Kinning, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneityFrédéric Tran Mau-Them, Aurélia Boualam, Mouna Barat-Houari, et al.
Pediatric Radiology|February 4, 2015
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesisMassimiliano Rossi, Christine M Hall, Raymonde Bouvier, et al.
Journal of Medical Genetics|August 4, 2009
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrumDenise P Cavalcanti, Celine Huber, Kim-Hanh Le Quan Sang, et al.
American Journal of Human Genetics|May 16, 2009
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type IIINathalie Dagoneau, Marie Goulet, David Geneviève, et al.
Pageof 12

Showing results (51-60 of 113) with videos related to

Sort By:
Pageof 12
Molecular Genetics and Metabolism|April 25, 2006
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patientsRuth Bargal, Marsha Zeigler, Bassam Abu-Libdeh, et al.
American Journal of Human Genetics|December 27, 2008
Mutations in DDR2 gene cause SMED with short limbs and abnormal calcificationsRuth Bargal, Valerie Cormier-Daire, Ziva Ben-Neriah, et al.
Nature Genetics|August 9, 2005
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndromeChristine Gicquel, Sylvie Rossignol, Sylvie Cabrol, et al.
Advances and Technical Standards in Neurosurgery|November 23, 2013
Craniovertebral junction anomalies in achondroplastic childrenVincent Reina, Genevieve Baujat, Brigitte Fauroux, et al.
American Journal of Medical Genetics. Part A|August 20, 2013
The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variabilityCybel Mehawej, Jean-Benoît Courcet, Geneviève Baujat, et al.
Human Molecular Genetics|January 30, 2003
Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndromeVincent El Ghouzzi, Nathalie Dagoneau, Esther Kinning, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneityFrédéric Tran Mau-Them, Aurélia Boualam, Mouna Barat-Houari, et al.
Pediatric Radiology|February 4, 2015
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesisMassimiliano Rossi, Christine M Hall, Raymonde Bouvier, et al.
Journal of Medical Genetics|August 4, 2009
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrumDenise P Cavalcanti, Celine Huber, Kim-Hanh Le Quan Sang, et al.
American Journal of Human Genetics|May 16, 2009
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type IIINathalie Dagoneau, Marie Goulet, David Geneviève, et al.
Pageof 12