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Judith J Jans

Showing results (11-20 of 17) with videos related to

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Biochimica Et Biophysica Acta. Molecular Basis of Disease|November 25, 2019
Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrationsJolita Ciapaite, Monique Albersen, Sanne M C Savelberg, et al.
The Journal of Biological Chemistry|July 14, 2023
Maintenance of cellular vitamin B<sub>6</sub> levels and mitochondrial oxidative function depend on pyridoxal 5'-phosphate homeostasis proteinJolita Ciapaite, Carlo W T van Roermund, Marjolein Bosma, et al.
The Journal of Pathology|June 8, 2013
Regulation of E2F1 by the von Hippel-Lindau tumour suppressor protein predicts survival in renal cell cancer patientsDorus A Mans, Joost S Vermaat, Bart G Weijts, et al.
The Journal of Clinical Investigation|February 14, 2017
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorderNoa Lipstein, Nanda M Verhoeven-Duif, Francesco E Michelassi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 14, 2020
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative conditionShereen G Ghosh, Sangmoon Lee, Rudy Fabunan, et al.
Nature Communications|April 2, 2019
Identification of human D lactate dehydrogenase deficiencyGlen R Monroe, Albertien M van Eerde, Federico Tessadori, et al.
American Journal of Human Genetics|August 20, 2019
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related EncephalopathyClara D M van Karnebeek, Rúben J Ramos, Xiao-Yan Wen, et al.
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Showing results (11-20 of 17) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|November 25, 2019
Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrationsJolita Ciapaite, Monique Albersen, Sanne M C Savelberg, et al.
The Journal of Biological Chemistry|July 14, 2023
Maintenance of cellular vitamin B<sub>6</sub> levels and mitochondrial oxidative function depend on pyridoxal 5'-phosphate homeostasis proteinJolita Ciapaite, Carlo W T van Roermund, Marjolein Bosma, et al.
The Journal of Pathology|June 8, 2013
Regulation of E2F1 by the von Hippel-Lindau tumour suppressor protein predicts survival in renal cell cancer patientsDorus A Mans, Joost S Vermaat, Bart G Weijts, et al.
The Journal of Clinical Investigation|February 14, 2017
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorderNoa Lipstein, Nanda M Verhoeven-Duif, Francesco E Michelassi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 14, 2020
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative conditionShereen G Ghosh, Sangmoon Lee, Rudy Fabunan, et al.
Nature Communications|April 2, 2019
Identification of human D lactate dehydrogenase deficiencyGlen R Monroe, Albertien M van Eerde, Federico Tessadori, et al.
American Journal of Human Genetics|August 20, 2019
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related EncephalopathyClara D M van Karnebeek, Rúben J Ramos, Xiao-Yan Wen, et al.
Pageof 2