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

A Munnich

Showing results (121-130 of 573) with videos related to

Pageof 58
Sort By:
American Journal of Medical Genetics. Part A|March 19, 2008
Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literatureD Geneviève, M Le Merrer, J Feingold, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement|October 1, 1996
Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasiaJ Bonaventure, F Rousseau, L Legeai-Mallet, et al.
FEBS Letters|November 1, 1979
The effects of common bile duct ligation upon the rat liver beta-adrenergic receptor-adenylate cylase systemP H Schmelck, M C Billon, A Munnich, et al.
Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction|April 30, 2003
[Preimplantation genetic diagnosis and its psychological effects]M Flis-Trèves, N Achour-Frydman, V Kerbrat, et al.
Annales De Genetique|May 20, 2000
Cerebellar ataxia and mental retardation in a child with an inherited satellited chromosome 4qL Faivre, I Radford, G Viot, et al.
Human Mutation|November 3, 2000
Mutation analysis of the hamartin gene using denaturing high performance liquid chromatographyP Bénit, A Kara-Mostefa, M Berthelon, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|September 15, 1995
An improved spectrophotometric assay of pyruvate dehydrogenase in lactate dehydrogenase contaminated mitochondrial preparations from human skeletal muscleD Chretien, M Pourrier, T Bourgeron, et al.
Human Molecular Genetics|August 1, 1993
Trinucleotide repeat polymorphism at the D5S556 locusP Burlet, S Abdelhak, F Pascal, et al.
Journal of Medical Genetics|December 1, 1996
Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25A Raas-Rothschild, S Manouvrier, M Gonzales, et al.
Human Genetics|March 1, 1996
Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in FranceB Fromenty, A Mansouri, J P Bonnefont, et al.
Pageof 58

Showing results (121-130 of 573) with videos related to

Sort By:
Pageof 58
American Journal of Medical Genetics. Part A|March 19, 2008
Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literatureD Geneviève, M Le Merrer, J Feingold, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement|October 1, 1996
Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasiaJ Bonaventure, F Rousseau, L Legeai-Mallet, et al.
FEBS Letters|November 1, 1979
The effects of common bile duct ligation upon the rat liver beta-adrenergic receptor-adenylate cylase systemP H Schmelck, M C Billon, A Munnich, et al.
Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction|April 30, 2003
[Preimplantation genetic diagnosis and its psychological effects]M Flis-Trèves, N Achour-Frydman, V Kerbrat, et al.
Annales De Genetique|May 20, 2000
Cerebellar ataxia and mental retardation in a child with an inherited satellited chromosome 4qL Faivre, I Radford, G Viot, et al.
Human Mutation|November 3, 2000
Mutation analysis of the hamartin gene using denaturing high performance liquid chromatographyP Bénit, A Kara-Mostefa, M Berthelon, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|September 15, 1995
An improved spectrophotometric assay of pyruvate dehydrogenase in lactate dehydrogenase contaminated mitochondrial preparations from human skeletal muscleD Chretien, M Pourrier, T Bourgeron, et al.
Human Molecular Genetics|August 1, 1993
Trinucleotide repeat polymorphism at the D5S556 locusP Burlet, S Abdelhak, F Pascal, et al.
Journal of Medical Genetics|December 1, 1996
Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25A Raas-Rothschild, S Manouvrier, M Gonzales, et al.
Human Genetics|March 1, 1996
Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in FranceB Fromenty, A Mansouri, J P Bonnefont, et al.
Pageof 58