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Barbara Plecko

Showing results (61-70 of 113) with videos related to

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Journal of Inherited Metabolic Disease|June 26, 2016
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathiesDéborah Mathis, Lucia Abela, Monique Albersen, et al.
Journal of Medical Genetics|April 10, 2017
Confirmation of mutations in <i>PROSC</i> as a novel cause of vitamin B <sub></sub> -dependent epilepsyBarbara Plecko, Markus Zweier, Anaïs Begemann, et al.
European Journal of Human Genetics : EJHG|June 12, 2014
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndromeMateusz Kolanczyk, Peter Krawitz, Jochen Hecht, et al.
Human Mutation|May 20, 2003
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancyLieve Claes, Berten Ceulemans, Dominique Audenaert, et al.
Annals of Neurology|January 15, 2009
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsyRenata C Gallagher, Johan L K Van Hove, Gunter Scharer, et al.
Molecular Genetics and Metabolism|June 9, 2009
Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplificationEfraim H Rosenberg, Eduard A Struys, Keith Hyland, et al.
Human Mutation|October 28, 2006
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) geneBarbara Plecko, Karl Paul, Eduard Paschke, et al.
Molecular Genetics and Metabolism|June 28, 2011
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-upSylvia Stockler, Barbara Plecko, Sidney M Gospe, et al.
Journal of Medical Genetics|August 11, 2021
Biallelic truncating variants in <i>ATP9A</i> cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thriveGuido Vogt, Sarah Verheyen, Sarina Schwartzmann, et al.
Blood|February 7, 2004
Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosisTaco W Kuijpers, Nikolai A Maianski, Anton T J Tool, et al.
Pageof 12

Showing results (61-70 of 113) with videos related to

Sort By:
Pageof 12
Journal of Inherited Metabolic Disease|June 26, 2016
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathiesDéborah Mathis, Lucia Abela, Monique Albersen, et al.
Journal of Medical Genetics|April 10, 2017
Confirmation of mutations in <i>PROSC</i> as a novel cause of vitamin B <sub></sub> -dependent epilepsyBarbara Plecko, Markus Zweier, Anaïs Begemann, et al.
European Journal of Human Genetics : EJHG|June 12, 2014
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndromeMateusz Kolanczyk, Peter Krawitz, Jochen Hecht, et al.
Human Mutation|May 20, 2003
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancyLieve Claes, Berten Ceulemans, Dominique Audenaert, et al.
Annals of Neurology|January 15, 2009
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsyRenata C Gallagher, Johan L K Van Hove, Gunter Scharer, et al.
Molecular Genetics and Metabolism|June 9, 2009
Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplificationEfraim H Rosenberg, Eduard A Struys, Keith Hyland, et al.
Human Mutation|October 28, 2006
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) geneBarbara Plecko, Karl Paul, Eduard Paschke, et al.
Molecular Genetics and Metabolism|June 28, 2011
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-upSylvia Stockler, Barbara Plecko, Sidney M Gospe, et al.
Journal of Medical Genetics|August 11, 2021
Biallelic truncating variants in <i>ATP9A</i> cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thriveGuido Vogt, Sarah Verheyen, Sarina Schwartzmann, et al.
Blood|February 7, 2004
Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosisTaco W Kuijpers, Nikolai A Maianski, Anton T J Tool, et al.
Pageof 12