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Robert Semple

Showing results (21-30 of 31) with videos related to

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The Journal of Clinical Investigation|August 27, 2010
Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cellsS Tamir Rashid, Sebastien Corbineau, Nick Hannan, et al.
The Journal of Clinical Investigation|August 9, 2014
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistanceFelicity Payne, Rita Colnaghi, Nuno Rocha, et al.
American Journal of Medical Genetics. Part A|May 19, 2016
Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutationKaren W Gripp, Laura Baker, Vinay Kandula, et al.
European Journal of Human Genetics : EJHG|January 16, 2014
Managing clinically significant findings in research: the UK10K exampleJane Kaye, Matthew Hurles, Heather Griffin, et al.
Cell Metabolism|October 3, 2006
Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistanceMaura Agostini, Erik Schoenmakers, Catherine Mitchell, et al.
Annales D'Endocrinologie|August 1, 2025
Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Paris, France, 20-21 May 2025Camille Vatier, David Araújo-Vilar, Baris Akinci, et al.
Annales D'Endocrinologie|October 7, 2022
Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Cambridge, UK, 7-8 April 2022Héléna Mosbah, Baris Akinci, David Araújo-Vilar, et al.
Human Mutation|April 23, 2017
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemiaDewi Astuti, Ataf Sabir, Piers Fulton, et al.
The Journal of Clinical Endocrinology and Metabolism|February 19, 2025
Lipodystrophy Severity Score to Assess Disease Burden in LipodystrophyRebecca J Brown, Baris Akinci, Matheos Yosef, et al.
The Journal of Clinical Investigation|November 19, 2010
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humansErik Schoenmakers, Maura Agostini, Catherine Mitchell, et al.
Pageof 4

Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
The Journal of Clinical Investigation|August 27, 2010
Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cellsS Tamir Rashid, Sebastien Corbineau, Nick Hannan, et al.
The Journal of Clinical Investigation|August 9, 2014
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistanceFelicity Payne, Rita Colnaghi, Nuno Rocha, et al.
American Journal of Medical Genetics. Part A|May 19, 2016
Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutationKaren W Gripp, Laura Baker, Vinay Kandula, et al.
European Journal of Human Genetics : EJHG|January 16, 2014
Managing clinically significant findings in research: the UK10K exampleJane Kaye, Matthew Hurles, Heather Griffin, et al.
Cell Metabolism|October 3, 2006
Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistanceMaura Agostini, Erik Schoenmakers, Catherine Mitchell, et al.
Annales D'Endocrinologie|August 1, 2025
Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Paris, France, 20-21 May 2025Camille Vatier, David Araújo-Vilar, Baris Akinci, et al.
Annales D'Endocrinologie|October 7, 2022
Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Cambridge, UK, 7-8 April 2022Héléna Mosbah, Baris Akinci, David Araújo-Vilar, et al.
Human Mutation|April 23, 2017
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemiaDewi Astuti, Ataf Sabir, Piers Fulton, et al.
The Journal of Clinical Endocrinology and Metabolism|February 19, 2025
Lipodystrophy Severity Score to Assess Disease Burden in LipodystrophyRebecca J Brown, Baris Akinci, Matheos Yosef, et al.
The Journal of Clinical Investigation|November 19, 2010
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humansErik Schoenmakers, Maura Agostini, Catherine Mitchell, et al.
Pageof 4