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

P Malzac

Showing results (21-30 of 33) with videos related to

Pageof 4
Sort By:
Journal of Medical Genetics|July 29, 1999
Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counsellingA Moncla, P Malzac, M O Livet, et al.
Acta Neuropathologica|July 1, 1997
Exertional rhabdomyolysis and exercise intolerance revealing dystrophinopathiesD Figarella-Branger, A M Baeta Machado, G A Putzu, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|March 1, 2017
[Next-generation DNA sequencing in clinical diagnostics]C Lacoste, A Fabre, C Pécheux, et al.
European Journal of Human Genetics : EJHG|April 26, 2000
Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1AR Bernard, V Labelle, P Negre, et al.
American Journal of Human Genetics|June 19, 1998
Mutation analysis of UBE3A in Angelman syndrome patientsP Malzac, H Webber, A Moncla, et al.
Neuromuscular Disorders : NMD|March 4, 1999
Exclusion of muscle specific actinin-associated LIM protein (ALP) gene from 4q35 facioscapulohumeral muscular dystrophy (FSHD) candidate genesS Bouju, G Piétu, M Le Cunff, et al.
European Journal of Human Genetics : EJHG|April 10, 1999
Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patientsA Moncla, P Malzac, M A Voelckel, et al.
Neuromuscular Disorders : NMD|December 4, 2001
Myopathy with lobulated muscle fibers: evidence for heterogeneous etiology and clinical presentationD Figarella-Branger, M El-Dassouki, A Saenz, et al.
Pathologie-Biologie|February 2, 2010
[Genetic testing in the context of the revision of the French law on bioethics]D Bonneau, S Marlin, D Sanlaville, et al.
Nature Genetics|November 14, 1997
The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal regionP Jay, C Rougeulle, A Massacrier, et al.
Pageof 4

Showing results (21-30 of 33) with videos related to

Sort By:
Pageof 4
Journal of Medical Genetics|July 29, 1999
Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counsellingA Moncla, P Malzac, M O Livet, et al.
Acta Neuropathologica|July 1, 1997
Exertional rhabdomyolysis and exercise intolerance revealing dystrophinopathiesD Figarella-Branger, A M Baeta Machado, G A Putzu, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|March 1, 2017
[Next-generation DNA sequencing in clinical diagnostics]C Lacoste, A Fabre, C Pécheux, et al.
European Journal of Human Genetics : EJHG|April 26, 2000
Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1AR Bernard, V Labelle, P Negre, et al.
American Journal of Human Genetics|June 19, 1998
Mutation analysis of UBE3A in Angelman syndrome patientsP Malzac, H Webber, A Moncla, et al.
Neuromuscular Disorders : NMD|March 4, 1999
Exclusion of muscle specific actinin-associated LIM protein (ALP) gene from 4q35 facioscapulohumeral muscular dystrophy (FSHD) candidate genesS Bouju, G Piétu, M Le Cunff, et al.
European Journal of Human Genetics : EJHG|April 10, 1999
Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patientsA Moncla, P Malzac, M A Voelckel, et al.
Neuromuscular Disorders : NMD|December 4, 2001
Myopathy with lobulated muscle fibers: evidence for heterogeneous etiology and clinical presentationD Figarella-Branger, M El-Dassouki, A Saenz, et al.
Pathologie-Biologie|February 2, 2010
[Genetic testing in the context of the revision of the French law on bioethics]D Bonneau, S Marlin, D Sanlaville, et al.
Nature Genetics|November 14, 1997
The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal regionP Jay, C Rougeulle, A Massacrier, et al.
Pageof 4