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 (71-80 of 113) with videos related to

Pageof 12
Sort By:
Nature Genetics|February 12, 2008
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)David Geneviève, Valérie Proulle, Bertrand Isidor, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutationsShoji Ichikawa, Geneviève Baujat, Aksel Seyahi, et al.
Human Molecular Genetics|August 20, 2004
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathyClaire L Navarro, Annachiara De Sandre-Giovannoli, Rafaëlle Bernard, et al.
European Journal of Human Genetics : EJHG|March 17, 2005
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndromeDamien Sanlaville, David Genevieve, Céline Bernardin, et al.
Human Mutation|June 6, 2006
Mutations in two regions of FLNB result in atelosteogenesis I and IIIClaire Farrington-Rock, Marc H Firestein, Louise S Bicknell, et al.
American Journal of Human Genetics|January 24, 2004
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndromeNathalie Dagoneau, Deborah Scheffer, Céline Huber, et al.
Human Mutation|September 17, 2011
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contributionGail C Jackson, Laureane Mittaz-Crettol, Jacqueline A Taylor, et al.
Human Mutation|October 28, 2010
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia casesCéline Cluzeau, Smail Hadj-Rabia, Marguerite Jambou, et al.
Journal of Medical Genetics|January 23, 2013
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 familiesGeneviève Baujat, Céline Huber, Joyce El Hokayem, et al.
American Journal of Human Genetics|October 27, 2009
Identification of CANT1 mutations in Desbuquois dysplasiaCéline Huber, Bénédicte Oulès, Marta Bertoli, et al.
Pageof 12

Showing results (71-80 of 113) with videos related to

Sort By:
Pageof 12
Nature Genetics|February 12, 2008
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)David Geneviève, Valérie Proulle, Bertrand Isidor, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutationsShoji Ichikawa, Geneviève Baujat, Aksel Seyahi, et al.
Human Molecular Genetics|August 20, 2004
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathyClaire L Navarro, Annachiara De Sandre-Giovannoli, Rafaëlle Bernard, et al.
European Journal of Human Genetics : EJHG|March 17, 2005
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndromeDamien Sanlaville, David Genevieve, Céline Bernardin, et al.
Human Mutation|June 6, 2006
Mutations in two regions of FLNB result in atelosteogenesis I and IIIClaire Farrington-Rock, Marc H Firestein, Louise S Bicknell, et al.
American Journal of Human Genetics|January 24, 2004
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndromeNathalie Dagoneau, Deborah Scheffer, Céline Huber, et al.
Human Mutation|September 17, 2011
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contributionGail C Jackson, Laureane Mittaz-Crettol, Jacqueline A Taylor, et al.
Human Mutation|October 28, 2010
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia casesCéline Cluzeau, Smail Hadj-Rabia, Marguerite Jambou, et al.
Journal of Medical Genetics|January 23, 2013
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 familiesGeneviève Baujat, Céline Huber, Joyce El Hokayem, et al.
American Journal of Human Genetics|October 27, 2009
Identification of CANT1 mutations in Desbuquois dysplasiaCéline Huber, Bénédicte Oulès, Marta Bertoli, et al.
Pageof 12