Výsledky vyhledávání - Gabriele Wohlrab
- Zobrazuji výsledky 1 - 6 z 6
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Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine‐dependent epilepsy and pyridoxine phosphate oxidase deficiency Autor Bernhard Schmitt, Matthias R. Baumgartner, Philippa B. Mills, Peter T. Clayton, Cornelis Jakobs, Elmar Keller, Gabriele Wohlrab
Vydáno 2010Artigo -
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Does vigabatrin treatment for infantile spasms cause visual field defects? An international multicentre study Autor Raili Riikonen, Zvonka Rener‐Primec, Lionel Carmant, М. Ю. Дорофеева, Katalin Hollódy, Ilona Pálfiné Szabó, Branka S Krajnc, Gabriele Wohlrab, Iiris Sorri
Vydáno 2014Artigo -
4
Status epilepticus in children with Alpers’ disease caused by <i>POLG1</i> mutations: EEG and MRI features Autor Nicole I. Wolf, Shamima Rahman, Bernhard Schmitt, Jan‐Willem Taanman, Andrew Duncan, Inga Harting, Gabriele Wohlrab, Friedrich Ebinger, D. Rating, Thomas Bast
Vydáno 2008Artigo -
5
Focal cortical malformations in children with early infantile epilepsy and <i><scp>PCDH</scp>19</i> mutations: case report Autor Mary Kurian, Christian Korff, Emmanuelle Ranza, Andrea Bernasconi, Anja Lübbig, Srishti Nangia, Gian Paolo Ramelli, Gabriele Wohlrab, Douglas R. Nordli, Thomas Bast
Vydáno 2017Artigo -
6
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study Autor Sorina Mihaela Papuc, Lucia Abela, Katharina Steindl, Anaïs Begemann, Thomas L. Simmons, Bernhard Schmitt, Markus Zweier, Beatrice Oneda, Eileen Socher, Lisa M. Crowther, Gabriele Wohlrab, Laura Gogoll, Martin Poms, Michelle Seiler, Michael Papik, Rosa Baldinger, Alessandra Baumer, Reza Asadollahi, Judith Kroell-Seger, Regula Schmid, T. Iff, Thomas Schmitt‐Mechelke, K. Otten, Annette Hackenberg, Marie‐Claude Addor, Andrea Klein, Silvia Azzarello‐Burri, Heinrich Sticht, Pascal Joset, Barbara Plecko, Anita Rauch
Vydáno 2018Artigo
Vyhledávací nástroje:
Související témata
Epilepsy
Medicine
Psychiatry
Pediatrics
Biology
Anesthesia
Cohort
Gene
Genetics
Internal medicine
Neuroscience
Allele
Anticonvulsant
Bioinformatics
Cadherin
Candidate gene
Cell
Clinical neurology
Compound heterozygosity
Copy-number variation
Electroencephalography
Encephalopathy
Exome
Exome sequencing
Genome
Ictal
Intensive care medicine
Irritability
Menopause
Missense mutation