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Jean-Paul Bonnefont

Showing results (1-10 of 92) with videos related to

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Medecine Sciences : M/S|October 10, 2017
[Nuclear transfer to prevent transmission of mtDNA disorders: where are we?]Julie Steffann, Jean-Paul Bonnefont, Nelly Frydman
Molecular Genetics and Metabolism|March 6, 2003
Characterization of fatty acid oxidation in human muscle mitochondria and myoblastsFatima Djouadi, Jean Paul Bonnefont, Arnold Munnich, et al.
Molecular Aspects of Medicine|September 15, 2004
Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspectsJean-Paul Bonnefont, Fatima Djouadi, Carina Prip-Buus, et al.
Human Mutation|January 16, 2007
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutationsGuntram Borck, Mohamed Zarhrate, Jean-Paul Bonnefont, et al.
Physiological Genomics|August 25, 2005
Activation of RNA metabolism-related genes in mouse but not human tissues deficient in SMNRobert Olaso, Vandana Joshi, Julien Fernandez, et al.
Pediatric Research|July 4, 2003
Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrateFatima Djouadi, Jean-Paul Bonnefont, Laure Thuillier, et al.
Biochimica Et Biophysica Acta|December 4, 2004
Molecular diagnostics of mitochondrial disordersAgnès Rötig, Sophie Lebon, Elena Zinovieva, et al.
European Journal of Human Genetics : EJHG|September 12, 2013
Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disordersJulie Steffann, Caroline Michot, Roxana Borghese, et al.
Journal of Child Neurology|July 14, 2012
Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathyCyril Gitiaux, Jean Bergounioux, Maryse Magen, et al.
Prenatal Diagnosis|July 13, 2006
Genetic characterisation of circulating fetal cells allows non-invasive prenatal diagnosis of cystic fibrosisAli Saker, Alexandra Benachi, Jean Paul Bonnefont, et al.
Pageof 10

Showing results (1-10 of 92) with videos related to

Sort By:
Pageof 10
Medecine Sciences : M/S|October 10, 2017
[Nuclear transfer to prevent transmission of mtDNA disorders: where are we?]Julie Steffann, Jean-Paul Bonnefont, Nelly Frydman
Molecular Genetics and Metabolism|March 6, 2003
Characterization of fatty acid oxidation in human muscle mitochondria and myoblastsFatima Djouadi, Jean Paul Bonnefont, Arnold Munnich, et al.
Molecular Aspects of Medicine|September 15, 2004
Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspectsJean-Paul Bonnefont, Fatima Djouadi, Carina Prip-Buus, et al.
Human Mutation|January 16, 2007
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutationsGuntram Borck, Mohamed Zarhrate, Jean-Paul Bonnefont, et al.
Physiological Genomics|August 25, 2005
Activation of RNA metabolism-related genes in mouse but not human tissues deficient in SMNRobert Olaso, Vandana Joshi, Julien Fernandez, et al.
Pediatric Research|July 4, 2003
Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrateFatima Djouadi, Jean-Paul Bonnefont, Laure Thuillier, et al.
Biochimica Et Biophysica Acta|December 4, 2004
Molecular diagnostics of mitochondrial disordersAgnès Rötig, Sophie Lebon, Elena Zinovieva, et al.
European Journal of Human Genetics : EJHG|September 12, 2013
Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disordersJulie Steffann, Caroline Michot, Roxana Borghese, et al.
Journal of Child Neurology|July 14, 2012
Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathyCyril Gitiaux, Jean Bergounioux, Maryse Magen, et al.
Prenatal Diagnosis|July 13, 2006
Genetic characterisation of circulating fetal cells allows non-invasive prenatal diagnosis of cystic fibrosisAli Saker, Alexandra Benachi, Jean Paul Bonnefont, et al.
Pageof 10