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Nathalie Drouot

Showing results (1-10 of 52) with videos related to

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American Journal of Human Genetics|January 29, 2003
Early onset brain tumor and lymphoma in MSH2-deficient childrenGaëlle Bougeard, Françoise Charbonnier, Alexandre Moerman, et al.
Genetic Testing and Molecular Biomarkers|March 19, 2011
Development of a nonfluorescent multiplex semiquantitative polymerase chain reaction to confirm rearrangements detected by array-comparative genomic hybridizationVincent Huin, Nathalie Drouot, Pascal Chambon, et al.
European Journal of Human Genetics : EJHG|February 10, 2018
Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndromeAudrey Schalk, Géraldine Greff, Nathalie Drouot, et al.
Frontiers in Neuroscience|March 4, 2026
Correction: DYRK1A roles in human neural progenitorsJeremie Courraud, Angélique Quartier, Nathalie Drouot, et al.
Frontiers in Neuroscience|April 4, 2025
DYRK1A roles in human neural progenitorsJeremie Courraud, Angélique Quartier, Nathalie Drouot, et al.
Movement Disorders Clinical Practice|February 5, 2019
Cerebral Iron Accumulation Is Not a Major Feature of <i>FA2H</i>/SPG35Cecilia Marelli, Mustafa A Salih, Karine Nguyen, et al.
American Journal of Medical Genetics. Part A|April 29, 2010
Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletionPascale Saugier-Veber, Diane Doummar, Marie-Anne Barthez, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 19, 2022
De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic DyskinesiaThomas Wirth, Aurélie Méneret, Nathalie Drouot, et al.
Journal of Neurology|May 28, 2016
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxiaMathilde Renaud, Claire Guissart, Martial Mallaret, et al.
BMC Medical Genetics|June 13, 2015
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxiaWahiba Hamza, Lamia Ali Pacha, Tarik Hamadouche, et al.
Pageof 6

Showing results (1-10 of 52) with videos related to

Sort By:
Pageof 6
American Journal of Human Genetics|January 29, 2003
Early onset brain tumor and lymphoma in MSH2-deficient childrenGaëlle Bougeard, Françoise Charbonnier, Alexandre Moerman, et al.
Genetic Testing and Molecular Biomarkers|March 19, 2011
Development of a nonfluorescent multiplex semiquantitative polymerase chain reaction to confirm rearrangements detected by array-comparative genomic hybridizationVincent Huin, Nathalie Drouot, Pascal Chambon, et al.
European Journal of Human Genetics : EJHG|February 10, 2018
Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndromeAudrey Schalk, Géraldine Greff, Nathalie Drouot, et al.
Frontiers in Neuroscience|March 4, 2026
Correction: DYRK1A roles in human neural progenitorsJeremie Courraud, Angélique Quartier, Nathalie Drouot, et al.
Frontiers in Neuroscience|April 4, 2025
DYRK1A roles in human neural progenitorsJeremie Courraud, Angélique Quartier, Nathalie Drouot, et al.
Movement Disorders Clinical Practice|February 5, 2019
Cerebral Iron Accumulation Is Not a Major Feature of <i>FA2H</i>/SPG35Cecilia Marelli, Mustafa A Salih, Karine Nguyen, et al.
American Journal of Medical Genetics. Part A|April 29, 2010
Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletionPascale Saugier-Veber, Diane Doummar, Marie-Anne Barthez, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 19, 2022
De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic DyskinesiaThomas Wirth, Aurélie Méneret, Nathalie Drouot, et al.
Journal of Neurology|May 28, 2016
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxiaMathilde Renaud, Claire Guissart, Martial Mallaret, et al.
BMC Medical Genetics|June 13, 2015
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxiaWahiba Hamza, Lamia Ali Pacha, Tarik Hamadouche, et al.
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