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P Amati-Bonneau

Showing results (11-20 of 17) with videos related to

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Diabetes & Metabolism|October 29, 2008
Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitisC Verny, P Amati-Bonneau, F Letournel, et al.
Molecular Genetics and Metabolism Reports|April 17, 2025
The recurrent p.Glu3Lys variant in <i>EHHADH</i> is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalitiesP Rollier, A Cospain, M Barth, et al.
Journal of Medical Genetics|September 3, 2004
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataractP Reynier, P Amati-Bonneau, C Verny, et al.
Journal of Medical Genetics|July 14, 2009
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformationsN Le Meur, M Holder-Espinasse, S Jaillard, et al.
Journal of the Neurological Sciences|August 20, 2016
The wide POLG-related spectrum: An integrated viewM Béreau, M Anheim, A Echaniz-Laguna, et al.
Cell Death Discovery|June 9, 2016
Loss of function of <i>Ywhah</i> in mice induces deafness and cochlear outer hair cells' degenerationL Buret, G Rebillard, E Brun, et al.
Brain : a Journal of Neurology|February 17, 2010
Multi-system neurological disease is common in patients with OPA1 mutationsP Yu-Wai-Man, P G Griffiths, G S Gorman, et al.
Pageof 2

Showing results (11-20 of 17) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
Diabetes & Metabolism|October 29, 2008
Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitisC Verny, P Amati-Bonneau, F Letournel, et al.
Molecular Genetics and Metabolism Reports|April 17, 2025
The recurrent p.Glu3Lys variant in <i>EHHADH</i> is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalitiesP Rollier, A Cospain, M Barth, et al.
Journal of Medical Genetics|September 3, 2004
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataractP Reynier, P Amati-Bonneau, C Verny, et al.
Journal of Medical Genetics|July 14, 2009
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformationsN Le Meur, M Holder-Espinasse, S Jaillard, et al.
Journal of the Neurological Sciences|August 20, 2016
The wide POLG-related spectrum: An integrated viewM Béreau, M Anheim, A Echaniz-Laguna, et al.
Cell Death Discovery|June 9, 2016
Loss of function of <i>Ywhah</i> in mice induces deafness and cochlear outer hair cells' degenerationL Buret, G Rebillard, E Brun, et al.
Brain : a Journal of Neurology|February 17, 2010
Multi-system neurological disease is common in patients with OPA1 mutationsP Yu-Wai-Man, P G Griffiths, G S Gorman, et al.
Pageof 2