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1دورية أكاديمية
المؤلفون: Melissa H. Broeks, Nils W.F. Meijer, Denise Westland, Marjolein Bosma, Johan Gerrits, Hannah M. German, Jolita Ciapaite, Clara D.M. van Karnebeek, Ronald J.A. Wanders, Fried J.T. Zwartkruis, Nanda M. Verhoeven-Duif, Judith J.M. Jans
المصدر: Cell Reports, Vol 42, Iss 9, Pp 113043- (2023)
مصطلحات موضوعية: CP: Metabolism, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Wout J Weuring, Sakshi Singh, Linda Volkers, Martin B Rook, Ruben H van 't Slot, Marjolein Bosma, Marco Inserra, Irina Vetter, Nanda M Verhoeven-Duif, Kees P J Braun, Mirko Rivara, Bobby P C Koeleman
المصدر: PLoS ONE, Vol 15, Iss 3, p e0219106 (2020)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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3دورية أكاديمية
المؤلفون: Monique Albersen, Marjolein Bosma, Judith J M Jans, Floris C Hofstede, Peter M van Hasselt, Monique G M de Sain-van der Velden, Gepke Visser, Nanda M Verhoeven-Duif
المصدر: PLoS ONE, Vol 10, Iss 3, p e0120972 (2015)
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Monique Albersen, Marjolein Bosma, Nine V V A M Knoers, Berna H B de Ruiter, Eugène F Diekman, Jessica de Ruijter, Wouter F Visser, Tom J de Koning, Nanda M Verhoeven-Duif
المصدر: PLoS ONE, Vol 8, Iss 1, p e54113 (2013)
وصف الملف: electronic resource
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المؤلفون: Wanhao Chi, Atulya S R Iyengar, Monique Albersen, Marjolein Bosma, Nanda M Verhoeven-Duif, Chun-Fang Wu, Xiaoxi Zhuang
المصدر: Hum Mol Genet
مصطلحات موضوعية: Epilepsy, Behavior, Animal, Brain Diseases, Metabolic, Correction, Brain, General Medicine, Animal Feed, Pyridoxaminephosphate Oxidase, Disease Models, Animal, Drosophila melanogaster, Phenotype, Seizures, Gene Knockdown Techniques, Hypoxia-Ischemia, Brain, Mutation, Genetics, Animals, Humans, Genes, Lethal, Genetic Predisposition to Disease, RNA Interference, Molecular Biology, Genetics (clinical), Genetic Association Studies, Metabolic Networks and Pathways
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a48dddba514687eb0c0c3504a922522e
https://europepmc.org/articles/PMC9396934/ -
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المؤلفون: Marjolein Bosma, Johan Gerrits, Nico Lansu, Judith J.M. Jans, Nanda M. Verhoeven-Duif, Jeroen Bakkers, Jolita Ciapaite, Susan Zwakenberg, Gijs van Haaften, Sanne M C Savelberg, Monique Albersen, Fried J. T. Zwartkruis, Federico Tessadori
المساهمون: Hubrecht Institute for Developmental Biology and Stem Cell Research
المصدر: Biochimica et Biophysica Acta. Molecular Basis of Disease, 1866(3). Elsevier
Biochimica et Biophysica Acta-Molecular Basis of Disease. Elsevier B.V.مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pyridoxamine 5′-phosphate oxidase (PNPO) deficiency, PNPO, Synaptic Transmission, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Metabolic Diseases, Seizures, Internal medicine, medicine, Journal Article, Animals, Amino Acids, Pyridoxal, Zebrafish, Vitamin B, Molecular Biology, chemistry.chemical_classification, Oxidase test, biology, Brain Diseases, Metabolic, Glutamate receptor, Pyridoxal 5′-phosphate (PLP), Pyridoxine, biology.organism_classification, Pyridoxaminephosphate Oxidase, Amino acid, 030104 developmental biology, Endocrinology, chemistry, Pyridoxal Phosphate, Hypoxia-Ischemia, Brain, Molecular Medicine, Pyridoxamine, Oxidoreductases, 030217 neurology & neurosurgery, medicine.drug
وصف الملف: text/plain; image/pdf
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المؤلفون: Vishal Saxena, Nathalie Lepage, Marc Ekker, Kate Daniel, Alex MacKenzie, Izabella A. Pena, Pranesh Chakraborty, David A. Dyment, Kym M. Boycott, Devon L. Johnstone, Hellen Weinschutz Mendes, Yann Roussel, Marjolein Bosma, Tuan V. Bui, Clara D.M. van Karnebeek, Kevin Mongeon, Nanda M. Verhoeven-Duif
المساهمون: ANS - Cellular & Molecular Mechanisms, Other departments
المصدر: Genetics, 207(4), 1501. Genetics Society of America
Genetics, 207(4), 1501-1518. Genetics Society of America
Geneticsمصطلحات موضوعية: Developmental and Behavioral Genetics, 0301 basic medicine, Pathogenesis, Gene Knockout Techniques, chemistry.chemical_compound, Epilepsy, 0302 clinical medicine, heterocyclic compounds, Pyridoxine-dependent epilepsy, Zebrafish, gamma-Aminobutyric Acid, education.field_of_study, aldh7a1, Pyridoxine, 3. Good health, medicine.drug, medicine.medical_specialty, animal structures, Population, macromolecular substances, Investigations, Biology, gamma-Aminobutyric acid, 03 medical and health sciences, Seizures, Internal medicine, Genetics, medicine, Animals, Humans, education, Pyridoxal, Lysine, fungi, lysine metabolism, pyridoxine-dependent epilepsy, Aldehyde Dehydrogenase, medicine.disease, biology.organism_classification, Vitamin B 6, Disease Models, Animal, 030104 developmental biology, Endocrinology, chemistry, Mutation, metabolic epilepsy, sense organs, zebrafish model, 030217 neurology & neurosurgery
وصف الملف: image/pdf
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المؤلفون: Marco Inserra, Wout J. Weuring, Kees P.J. Braun, Linda Volkers, Nanda M. Verhoeven-Duif, Ruben van 't Slot, Irina Vetter, Sakshi Singh, Bobby P. C. Koeleman, Mirko Rivara, Martin B. Rook, Marjolein Bosma
مصطلحات موضوعية: biology, Dravet syndrome, Activator (genetics), NAV1, Convulsant, medicine, CRISPR, biology.organism_classification, medicine.disease, Zebrafish, Phenotype, Gene knockout, Cell biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc52538826dd5c801e76d4e0b623fd96
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المؤلفون: Susan Zwakenberg, Ruben Ramos, Nanda M. Verhoeven-Duif, Judith J.M. Jans, Monique Albersen, Esmee Vringer, Fried J. T. Zwartkruis, Marjolein Bosma
المصدر: Biochimica et biophysica acta-General subjects, 1863(6), 1088. Elsevier
مصطلحات موضوعية: 0301 basic medicine, Biophysics, Reductase, AKR1B1 and AKR1B10, Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, Journal Article, Humans, Molecular Biology, Pyridoxal, chemistry.chemical_classification, Oxidase test, Vitamin B6 vitamers, KCNAB2, Pyridoxal phosphatase, Pyridoxine, Vitamin B6 salvage pathway, Hep G2 Cells, Metabolism, Pyridoxal kinase, Vitamin B 6, Alcohol Oxidoreductases, HEK293 Cells, 030104 developmental biology, Enzyme, chemistry, Pyridoxal reductase, Caco-2 Cells, 030217 neurology & neurosurgery, medicine.drug
وصف الملف: image/pdf
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المؤلفون: Sakshi Singh, Bobby P. C. Koeleman, Martin B. Rook, Marjolein Bosma, Marco Inserra, Mirko Rivara, Kees P.J. Braun, Linda Volkers, Ruben van 't Slot, Nanda M. Verhoeven-Duif, Irina Vetter, Wout J. Weuring
المصدر: PLoS ONE
PLoS ONE, Vol 15, Iss 3, p e0219106 (2020)مصطلحات موضوعية: 0301 basic medicine, Life Cycles, Embryology, Morpholino, Physiology, Action Potentials, Epilepsies, Myoclonic, Biochemistry, Ion Channels, Morpholinos, Epilepsy, Larvae, 0302 clinical medicine, Medicine and Health Sciences, Zebrafish, gamma-Aminobutyric Acid, Neurons, Voltage-Gated Sodium Channel Blockers, Multidisciplinary, biology, Physics, Eukaryota, Animal Models, Phenotype, Cell biology, Electrophysiology, Experimental Organism Systems, Neurology, Osteichthyes, Vertebrates, Physical Sciences, Medicine, Anticonvulsants, Locomotion, RNA, Guide, Kinetoplastida, Research Article, Science, Biophysics, Neurophysiology, Research and Analysis Methods, Membrane Potential, 03 medical and health sciences, Model Organisms, Dravet syndrome, medicine, Animals, Humans, RNA, Messenger, Swimming, Gene knockout, Biological Locomotion, Embryos, Organisms, Biology and Life Sciences, Proteins, Voltage-Gated Sodium Channel Agonists, Zebrafish Proteins, GABA receptor antagonist, medicine.disease, biology.organism_classification, NAV1.1 Voltage-Gated Sodium Channel, Disease Models, Animal, Fish, 030104 developmental biology, Mutagenesis, NAV1.6 Voltage-Gated Sodium Channel, NAV1, Animal Studies, Pentylenetetrazole, 030217 neurology & neurosurgery, Developmental Biology, Neuroscience