Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Martine Le Merrer

Showing results (11-20 of 113) with videos related to

Pageof 12
Sort By:
Acta Neurochirurgica|August 7, 2013
Mucopolysaccharidosis type I and craniosynostosisJawad Ziyadeh, Martine Le Merrer, Matthieu Robert, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|February 13, 2009
Effectiveness of anastrozole and cyproterone acetate in two brothers with familial male precocious pubertyStéphanie Eyssette-Guerreau, Graziella Pinto, Ariane Sultan, et al.
Human Mutation|June 29, 2004
X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European familiesJörg Fiedler, Martine Le Merrer, Geert Mortier, et al.
Journal of the American Academy of Dermatology|November 9, 2010
Scalp nodules as a presenting sign of fibrodysplasia ossificans progressiva: a register-based studyMaryam Piram, Martine Le Merrer, Valérie Bughin, et al.
Molecular Genetics and Metabolism|October 7, 2004
Recent advances in Dyggve-Melchior-Clausen syndromeVincent Paupe, Thierry Gilbert, Martine Le Merrer, et al.
American Journal of Medical Genetics. Part A|December 18, 2003
Metaphyseal chondrodysplasia with cone-shaped epiphyses: a specific form involving the lower limbsAnne Dieux-Coëslier, Alexandre Moerman, Muriel Holder, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophyBertrand Isidor, Sabine Baron, Philippe Khau van Kien, et al.
European Journal of Medical Genetics|December 20, 2011
Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndromeCybel Mehawej, Eliane Chouery, Diane Maalouf, et al.
European Journal of Human Genetics : EJHG|January 19, 2006
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndromeElisabeth Lajeunie, Solange Heuertz, Vincent El Ghouzzi, et al.
American Journal of Medical Genetics. Part A|June 17, 2008
A new osteogenesis imperfecta with improvement over time maps to 11qAgnès Kamoun-Goldrat, Stéphanie Pannier, Céline Huber, et al.
Pageof 12

Showing results (11-20 of 113) with videos related to

Sort By:
Pageof 12
Acta Neurochirurgica|August 7, 2013
Mucopolysaccharidosis type I and craniosynostosisJawad Ziyadeh, Martine Le Merrer, Matthieu Robert, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|February 13, 2009
Effectiveness of anastrozole and cyproterone acetate in two brothers with familial male precocious pubertyStéphanie Eyssette-Guerreau, Graziella Pinto, Ariane Sultan, et al.
Human Mutation|June 29, 2004
X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European familiesJörg Fiedler, Martine Le Merrer, Geert Mortier, et al.
Journal of the American Academy of Dermatology|November 9, 2010
Scalp nodules as a presenting sign of fibrodysplasia ossificans progressiva: a register-based studyMaryam Piram, Martine Le Merrer, Valérie Bughin, et al.
Molecular Genetics and Metabolism|October 7, 2004
Recent advances in Dyggve-Melchior-Clausen syndromeVincent Paupe, Thierry Gilbert, Martine Le Merrer, et al.
American Journal of Medical Genetics. Part A|December 18, 2003
Metaphyseal chondrodysplasia with cone-shaped epiphyses: a specific form involving the lower limbsAnne Dieux-Coëslier, Alexandre Moerman, Muriel Holder, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophyBertrand Isidor, Sabine Baron, Philippe Khau van Kien, et al.
European Journal of Medical Genetics|December 20, 2011
Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndromeCybel Mehawej, Eliane Chouery, Diane Maalouf, et al.
European Journal of Human Genetics : EJHG|January 19, 2006
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndromeElisabeth Lajeunie, Solange Heuertz, Vincent El Ghouzzi, et al.
American Journal of Medical Genetics. Part A|June 17, 2008
A new osteogenesis imperfecta with improvement over time maps to 11qAgnès Kamoun-Goldrat, Stéphanie Pannier, Céline Huber, et al.
Pageof 12