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Uwe Ahting

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Neuropediatrics|June 26, 2018

PRUNE1 Deficiency: Expanding the Clinical and Genetic SpectrumBader Alhaddad, Anna Schossig, Tobias B Haack, et al.

American Journal of Human Genetics|February 7, 2015

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiencyGloria Brea-Calvo, Tobias B Haack, Daniela Karall, et al.

Nature Immunology|April 25, 2020

Regulatory myeloid cells paralyze T cells through cell-cell transfer of the metabolite methylglyoxalTobias Baumann, Andreas Dunkel, Christian Schmid, et al.

Brain : a Journal of Neurology|December 22, 2018

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnessesNicole J Van Bergen, Yiran Guo, Julia Rankin, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2019

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathyRené G Feichtinger, Bettina E Mucha, Holger Hengel, et al.

Orphanet Journal of Rare Diseases|July 21, 2018

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, et al.

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Search research articles

Showing results (31-40 of 36) with videos related to

Sort By:

Pageof 4

You have reached the last page of results.This site can display upto 36 results.

Neuropediatrics|June 26, 2018

PRUNE1 Deficiency: Expanding the Clinical and Genetic SpectrumBader Alhaddad, Anna Schossig, Tobias B Haack, et al.

American Journal of Human Genetics|February 7, 2015

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiencyGloria Brea-Calvo, Tobias B Haack, Daniela Karall, et al.

Nature Immunology|April 25, 2020

Regulatory myeloid cells paralyze T cells through cell-cell transfer of the metabolite methylglyoxalTobias Baumann, Andreas Dunkel, Christian Schmid, et al.

Brain : a Journal of Neurology|December 22, 2018

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnessesNicole J Van Bergen, Yiran Guo, Julia Rankin, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2019

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathyRené G Feichtinger, Bettina E Mucha, Holger Hengel, et al.

Orphanet Journal of Rare Diseases|July 21, 2018

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, et al.

Pageof 4