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Dominique Bonneau

Showing results (161-170 of 253) with videos related to

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Biochimica Et Biophysica Acta. Molecular Basis of Disease|May 24, 2019
Warburg-like effect is a hallmark of complex I assembly defectsValerie Desquiret-Dumas, Geraldine Leman, Celine Wetterwald, et al.
Clinical Genetics|November 29, 2022
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literatureLoïc Couloigner, Marc Planes, Chandran Ka, et al.
Human Mutation|June 15, 2007
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndromePascale Saugier-Veber, Céline Bonnet, Alexandra Afenjar, et al.
Investigative Ophthalmology & Visual Science|February 5, 2017
Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ MiceJuan Manuel Chao de la Barca, Gilles Simard, Emmanuelle Sarzi, et al.
American Journal of Human Genetics|December 4, 2014
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndromeEstelle Colin, Evelyne Huynh Cong, Géraldine Mollet, et al.
European Journal of Medical Genetics|November 3, 2009
Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French seriesSylvie Jaillard, Séverine Drunat, Claude Bendavid, et al.
American Journal of Human Genetics|July 20, 2022
Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorderAlban Ziegler, Katharina Steindl, Ashleigh S Hanner, et al.
Biomedicines|July 27, 2022
Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body ExposureSophie Belal, David Goudenège, Cinzia Bocca, et al.
Nature Genetics|February 14, 2006
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndromeTetsuya Niihori, Yoko Aoki, Yoko Narumi, et al.
American Journal of Human Genetics|December 13, 2006
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndromeCorinne Stoetzel, Jean Muller, Virginie Laurier, et al.
Pageof 26

Showing results (161-170 of 253) with videos related to

Sort By:
Pageof 26
Biochimica Et Biophysica Acta. Molecular Basis of Disease|May 24, 2019
Warburg-like effect is a hallmark of complex I assembly defectsValerie Desquiret-Dumas, Geraldine Leman, Celine Wetterwald, et al.
Clinical Genetics|November 29, 2022
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literatureLoïc Couloigner, Marc Planes, Chandran Ka, et al.
Human Mutation|June 15, 2007
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndromePascale Saugier-Veber, Céline Bonnet, Alexandra Afenjar, et al.
Investigative Ophthalmology & Visual Science|February 5, 2017
Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ MiceJuan Manuel Chao de la Barca, Gilles Simard, Emmanuelle Sarzi, et al.
American Journal of Human Genetics|December 4, 2014
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndromeEstelle Colin, Evelyne Huynh Cong, Géraldine Mollet, et al.
European Journal of Medical Genetics|November 3, 2009
Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French seriesSylvie Jaillard, Séverine Drunat, Claude Bendavid, et al.
American Journal of Human Genetics|July 20, 2022
Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorderAlban Ziegler, Katharina Steindl, Ashleigh S Hanner, et al.
Biomedicines|July 27, 2022
Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body ExposureSophie Belal, David Goudenège, Cinzia Bocca, et al.
Nature Genetics|February 14, 2006
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndromeTetsuya Niihori, Yoko Aoki, Yoko Narumi, et al.
American Journal of Human Genetics|December 13, 2006
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndromeCorinne Stoetzel, Jean Muller, Virginie Laurier, et al.
Pageof 26