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Berten Ceulemans

Showing results (111-120 of 137) with videos related to

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Neurology|October 11, 2013
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patientsSarah Weckhuysen, Vanja Ivanovic, Rik Hendrickx, et al.
Brain : a Journal of Neurology|August 16, 2011
Genetic spectrum of hereditary neuropathies with onset in the first year of lifeJonathan Baets, Tine Deconinck, Els De Vriendt, et al.
Neurology|January 4, 2023
Clinical and Neurophysiologic Phenotypes in Neonates With <i>BRAT1</i> EncephalopathyEvelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, et al.
Epilepsia|February 3, 2023
Perampanel as precision therapy in rare genetic epilepsiesAndreea Nissenkorn, Gerhard Kluger, Susanne Schubert-Bast, et al.
Brain : a Journal of Neurology|March 7, 2008
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31Christian Beetz, Rebecca Schüle, Tine Deconinck, et al.
European Journal of Medical Genetics|March 3, 2009
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndromeNathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer, et al.
Brain : a Journal of Neurology|November 26, 2020
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disordersFanny Mochel, Agnès Rastetter, Berten Ceulemans, et al.
Neurology. Genetics|March 4, 2021
Genotype-phenotype correlations in patients with de novo <i>KCNQ2</i> pathogenic variantsFederica Malerba, Giulio Alberini, Ganna Balagura, et al.
Molecular Genetics & Genomic Medicine|August 17, 2021
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsySarah Duerinckx, Julie Désir, Camille Perazzolo, et al.
NPJ Genomic Medicine|December 10, 2019
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in <i>SCN1A</i>Charles A Steward, Jolien Roovers, Marie-Marthe Suner, et al.
Pageof 14

Showing results (111-120 of 137) with videos related to

Sort By:
Pageof 14
Neurology|October 11, 2013
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patientsSarah Weckhuysen, Vanja Ivanovic, Rik Hendrickx, et al.
Brain : a Journal of Neurology|August 16, 2011
Genetic spectrum of hereditary neuropathies with onset in the first year of lifeJonathan Baets, Tine Deconinck, Els De Vriendt, et al.
Neurology|January 4, 2023
Clinical and Neurophysiologic Phenotypes in Neonates With <i>BRAT1</i> EncephalopathyEvelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, et al.
Epilepsia|February 3, 2023
Perampanel as precision therapy in rare genetic epilepsiesAndreea Nissenkorn, Gerhard Kluger, Susanne Schubert-Bast, et al.
Brain : a Journal of Neurology|March 7, 2008
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31Christian Beetz, Rebecca Schüle, Tine Deconinck, et al.
European Journal of Medical Genetics|March 3, 2009
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndromeNathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer, et al.
Brain : a Journal of Neurology|November 26, 2020
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disordersFanny Mochel, Agnès Rastetter, Berten Ceulemans, et al.
Neurology. Genetics|March 4, 2021
Genotype-phenotype correlations in patients with de novo <i>KCNQ2</i> pathogenic variantsFederica Malerba, Giulio Alberini, Ganna Balagura, et al.
Molecular Genetics & Genomic Medicine|August 17, 2021
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsySarah Duerinckx, Julie Désir, Camille Perazzolo, et al.
NPJ Genomic Medicine|December 10, 2019
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in <i>SCN1A</i>Charles A Steward, Jolien Roovers, Marie-Marthe Suner, et al.
Pageof 14