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Ellen Knierim

Showing results (1-10 of 36) with videos related to

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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 22, 2016
Acute isolated partial oculomotor nerve palsy due to Lyme neuroborreliosis in a 5 year old girlAnne Drenckhahn, Birgit Spors, Ellen Knierim
Journal of Inherited Metabolic Disease|February 4, 2015
Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan diseaseAnne Drenckhahn, Markus Schuelke, Ellen Knierim
Journal of Medical Genetics|June 5, 2013
CNVinspector: a web-based tool for the interactive evaluation of copy number variations in single patients and in cohortsEllen Knierim, Jana Marie Schwarz, Markus Schuelke, et al.
Plos One|December 6, 2011
Systematic comparison of three methods for fragmentation of long-range PCR products for next generation sequencingEllen Knierim, Barbara Lucke, Jana Marie Schwarz, et al.
Mitochondrion|December 3, 2014
Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticusEllen Knierim, Dominik Seelow, Esther Gill, et al.
Brain Research|October 23, 2018
CSF reactivity in GABA<sub>A</sub> receptor antibody encephalitis - Immunocytochemical distribution in the murine brainMarc Nikolaus, Jakob Kreye, Paul Turko, et al.
Clinical Genetics|November 13, 2018
Phenotero: Annotate as you writeDaniela Hombach, Jana M Schwarz, Ellen Knierim, et al.
International Journal of Molecular Sciences|June 2, 2021
A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2Sarah Paisdzior, Ellen Knierim, Gunnar Kleinau, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 4, 2018
Severe GABA<sub>A</sub> receptor encephalitis without seizures: A paediatric case successfully treated with early immunomodulationMarc Nikolaus, Ellen Knierim, Christian Meisel, et al.
Brain & Development|July 27, 2019
Fulminant cerebral venous thrombosis associated with the m.3243A>G MELAS mutation: A new guise for an old diseaseMarc Nikolaus, Anna Tietze, Leonille Schweizer, et al.
Pageof 4

Showing results (1-10 of 36) with videos related to

Sort By:
Pageof 4
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 22, 2016
Acute isolated partial oculomotor nerve palsy due to Lyme neuroborreliosis in a 5 year old girlAnne Drenckhahn, Birgit Spors, Ellen Knierim
Journal of Inherited Metabolic Disease|February 4, 2015
Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan diseaseAnne Drenckhahn, Markus Schuelke, Ellen Knierim
Journal of Medical Genetics|June 5, 2013
CNVinspector: a web-based tool for the interactive evaluation of copy number variations in single patients and in cohortsEllen Knierim, Jana Marie Schwarz, Markus Schuelke, et al.
Plos One|December 6, 2011
Systematic comparison of three methods for fragmentation of long-range PCR products for next generation sequencingEllen Knierim, Barbara Lucke, Jana Marie Schwarz, et al.
Mitochondrion|December 3, 2014
Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticusEllen Knierim, Dominik Seelow, Esther Gill, et al.
Brain Research|October 23, 2018
CSF reactivity in GABA<sub>A</sub> receptor antibody encephalitis - Immunocytochemical distribution in the murine brainMarc Nikolaus, Jakob Kreye, Paul Turko, et al.
Clinical Genetics|November 13, 2018
Phenotero: Annotate as you writeDaniela Hombach, Jana M Schwarz, Ellen Knierim, et al.
International Journal of Molecular Sciences|June 2, 2021
A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2Sarah Paisdzior, Ellen Knierim, Gunnar Kleinau, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 4, 2018
Severe GABA<sub>A</sub> receptor encephalitis without seizures: A paediatric case successfully treated with early immunomodulationMarc Nikolaus, Ellen Knierim, Christian Meisel, et al.
Brain & Development|July 27, 2019
Fulminant cerebral venous thrombosis associated with the m.3243A>G MELAS mutation: A new guise for an old diseaseMarc Nikolaus, Anna Tietze, Leonille Schweizer, et al.
Pageof 4