检索结果 - Gabriele Wohlrab
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Focal cortical malformations in children with early infantile epilepsy and <i><scp>PCDH</scp>19</i> mutations: case report 由 Mary Kurian, Christian Korff, Emmanuelle Ranza, Andrea Bernasconi, Anja Lübbig, Srishti Nangia, Gian Paolo Ramelli, Gabriele Wohlrab, Douglas R. Nordli, Thomas Bast
出版 2017Artigo -
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The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study 由 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
出版 2018Artigo
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Epilepsy
Medicine
Psychiatry
Pediatrics
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Anesthesia
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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
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Intensive care medicine
Irritability
Menopause
Missense mutation