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Human Genomics
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September 14, 2023
Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach
Ainhoa Pascual-Alonso, Clara Xiol, Dmitrii Smirnov, et al.
Neuropediatrics
|
June 10, 2017
A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era
Saskia B Wortmann, Johannes A Mayr, Jean Marc Nuoffer, et al.
Brain : a Journal of Neurology
|
December 21, 2016
Treatable mitochondrial diseases: cofactor metabolism and beyond
Felix Distelmaier, Tobias B Haack, Saskia B Wortmann, et al.
The European Journal of Neuroscience
|
May 15, 2024
Multi-omics in MECP2 duplication syndrome patients and carriers
Ainhoa Pascual-Alonso, Clara Xiol, Dmitrii Smirnov, et al.
Pediatric Research
|
June 24, 2022
Neonatal lactic acidosis explained by LARS2 defect
Boel De Paepe, Joél Smet, Robert Kopajtich, et al.
Journal of Inherited Metabolic Disease
|
May 4, 2018
Severe ichthyosis in MPDU1-CDG
Christian Thiel, Saskia Wortmann, Korbinian Riedhammer, et al.
Molecular Biotechnology
|
September 10, 2008
MitoP2: an integrative tool for the analysis of the mitochondrial proteome
Matthias Elstner, Christophe Andreoli, Uwe Ahting, et al.
Pediatrics
|
February 2, 2019
Mutation in <i>ITCH</i> Gene Can Cause Syndromic Multisystem Autoimmune Disease With Acute Liver Failure
Nicola Kleine-Eggebrecht, Christian Staufner, Simone Kathemann, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 15, 2023
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine
Elisabetta Indelicato, Sylvia Boesch, Niccolo' E Mencacci, et al.
Brain : a Journal of Neurology
|
November 23, 2019
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses
Ji Zhou, Jiuwei Li, Sarah L Stenton, et al.
Page
of 40
Search research articles
Search
Showing results (41-50 of 394) with videos related to
Sort By:
Page
of 40
Human Genomics
|
September 14, 2023
Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach
Ainhoa Pascual-Alonso, Clara Xiol, Dmitrii Smirnov, et al.
Neuropediatrics
|
June 10, 2017
A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era
Saskia B Wortmann, Johannes A Mayr, Jean Marc Nuoffer, et al.
Brain : a Journal of Neurology
|
December 21, 2016
Treatable mitochondrial diseases: cofactor metabolism and beyond
Felix Distelmaier, Tobias B Haack, Saskia B Wortmann, et al.
The European Journal of Neuroscience
|
May 15, 2024
Multi-omics in MECP2 duplication syndrome patients and carriers
Ainhoa Pascual-Alonso, Clara Xiol, Dmitrii Smirnov, et al.
Pediatric Research
|
June 24, 2022
Neonatal lactic acidosis explained by LARS2 defect
Boel De Paepe, Joél Smet, Robert Kopajtich, et al.
Journal of Inherited Metabolic Disease
|
May 4, 2018
Severe ichthyosis in MPDU1-CDG
Christian Thiel, Saskia Wortmann, Korbinian Riedhammer, et al.
Molecular Biotechnology
|
September 10, 2008
MitoP2: an integrative tool for the analysis of the mitochondrial proteome
Matthias Elstner, Christophe Andreoli, Uwe Ahting, et al.
Pediatrics
|
February 2, 2019
Mutation in <i>ITCH</i> Gene Can Cause Syndromic Multisystem Autoimmune Disease With Acute Liver Failure
Nicola Kleine-Eggebrecht, Christian Staufner, Simone Kathemann, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 15, 2023
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine
Elisabetta Indelicato, Sylvia Boesch, Niccolo' E Mencacci, et al.
Brain : a Journal of Neurology
|
November 23, 2019
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses
Ji Zhou, Jiuwei Li, Sarah L Stenton, et al.
Page
of 40