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Author/Creator van Karnebeek, Clara D.M.

2. Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency. Issue 1 (1st December 2020)

Authors:
Coughlin, Curtis R.; Tseng, Laura A.; Abdenur, Jose E.; Ashmore, Catherine; Boemer, François; Bok, Levinus A.; Boyer, Monica; Buhas, Daniela; Clayton, Peter T.; Das, Anibh; Dekker, Hanka; Evangeliou, Athanasios; Feillet, François; Footitt, Emma J.; Gospe, Sidney M.; Hartmann, Hans; Kara, Majdi; K...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 1(2021)
Page Start:
178
Record Type:
Journal Article
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6. Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype. (1st August 2018)

Authors:
Horvath, Gabriella A.; Zhao, Yulin; Tarailo-Graovac, Maja; Boelman, Cyrus; Gill, Harinder; Shyr, Casper; Lee, James; Blydt-Hansen, Ingrid; Drögemöller, Britt I.; Moreland, Jacqueline; Ross, Colin J.; Wasserman, Wyeth W.; Masotti, Andrea; Slesinger, Paul A.; van Karnebeek, Clara D.M.
Journal:
Neuroscience
Issue:
Volume 384(2018)
Page Start:
152
Record Type:
Journal Article
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7. P4 medicine for epilepsy and intellectual disability: nutritional therapy for inherited metabolic disease. Issue 1 (27th March 2019)

Authors:
Tseng, Laura A.; Sowerbutt, Claire; Lee, Jessica J.Y.; van Karnebeek, Clara D.M.
Editors:
MacKenzie, Alex; Groft, Stephen; Justice, Monica; van Karnebeek, Clara
Journal:
Emerging topics in life sciences
Issue:
Volume 3:Issue 1(2019)
Page Start:
75
Record Type:
Journal Article
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8. Secondary Abnormal CSF Neurotransmitter Metabolite Profiles in a Pediatric Tertiary Care Centre. (14th December 2017)

Authors:
van Karnebeek, Clara D.M.; Dunbar, Mary; Egri, Csilla; Sayson, Bryan; Milea, Janetta; Stockler-Ipsiroglu, Sylvia; Huh, Linda; Connolly, Mary B.; Horvath, Gabriella A.
Journal:
Canadian journal of neurological sciences
Issue:
Volume 45:Number 2(2018)
Page Start:
206
Record Type:
Journal Article
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9. Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders: The Power of 1. (16th March 2021)

Authors:
Müller, Annelieke R.; Brands, Marion M.M.G.; van de Ven, Peter M.; Roes, Kit C.B.; Cornel, Martina C.; van Karnebeek, Clara D.M.; Wijburg, Frits A.; Daams, Joost G.; Boot, Erik; van Eeghen, Agnies M.
Journal:
Neurology
Issue:
Volume 96:Number 11(2021)
Page Start:
Record Type:
Journal Article
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10. The retinal pigmentation pathway in human albinism: Not so black and white. (November 2022)

Authors:
Bakker, Reinier; Wagstaff, Philip E.; Kruijt, Charlotte C.; Emri, Eszter; van Karnebeek, Clara D.M.; Hoffmann, Michael B.; Brooks, Brian P.; Boon, Camiel J.F.; Montoliu, Lluis; van Genderen, Maria M.; Bergen, Arthur A.
Journal:
Progress in retinal and eye research
Issue:
Volume 91(2022)
Page Start:
Record Type:
Journal Article
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