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Déborah Mathis

Showing results (21-30 of 26) with videos related to

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Journal of Inherited Metabolic Disease|July 16, 2015
N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomicsLucia Abela, Luke Simmons, Katharina Steindl, et al.
The Journal of Steroid Biochemistry and Molecular Biology|June 12, 2024
Mitochondrial dysfunction results in enhanced adrenal androgen production in H295R cellsDéborah Mathis, Therina du Toit, Emre Murat Altinkilic, et al.
Journal of Inherited Metabolic Disease|June 26, 2016
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathiesDéborah Mathis, Lucia Abela, Monique Albersen, et al.
Npj Metabolic Health and Disease|May 9, 2025
Characterization and treatment monitoring of ureagenesis disorders using stable isotopesGabriella Allegri, Martin Poms, Nadia Zürcher, et al.
The Journal of Biological Chemistry|August 14, 2016
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage EffectPatrick Forny, Anke Schumann, Merima Mustedanagic, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|November 27, 2019
In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduriaMarie Lucienne, Juan Antonio Aguilar-Pimentel, Oana V Amarie, et al.
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Showing results (21-30 of 26) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 26 results.
Journal of Inherited Metabolic Disease|July 16, 2015
N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomicsLucia Abela, Luke Simmons, Katharina Steindl, et al.
The Journal of Steroid Biochemistry and Molecular Biology|June 12, 2024
Mitochondrial dysfunction results in enhanced adrenal androgen production in H295R cellsDéborah Mathis, Therina du Toit, Emre Murat Altinkilic, et al.
Journal of Inherited Metabolic Disease|June 26, 2016
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathiesDéborah Mathis, Lucia Abela, Monique Albersen, et al.
Npj Metabolic Health and Disease|May 9, 2025
Characterization and treatment monitoring of ureagenesis disorders using stable isotopesGabriella Allegri, Martin Poms, Nadia Zürcher, et al.
The Journal of Biological Chemistry|August 14, 2016
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage EffectPatrick Forny, Anke Schumann, Merima Mustedanagic, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|November 27, 2019
In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduriaMarie Lucienne, Juan Antonio Aguilar-Pimentel, Oana V Amarie, et al.
Pageof 3