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European Journal of Human Genetics : EJHG
|
November 10, 2016
Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)
Hao Hu, Christoph Hübner, Zoltan Lukacs, et al.
Cancers
|
July 13, 2024
Expression of mGluR5 in Pediatric Hodgkin and Non-Hodgkin lymphoma-A Comparative Analysis of Immunohistochemical and Clinical Findings Regarding the Association between Tumor and Paraneoplastic Neurological Disease
Ingeborg Viezens, Ellen Knierim, Hedwig E Deubzer, et al.
Journal of Medical Genetics
|
November 30, 2018
De novo mutation in <i>ELOVL1</i> causes ichthyosis, <i>acanthosis nigricans</i>, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy
Noomi Mueller, Takayuki Sassa, Susanne Morales-Gonzalez, et al.
International Journal of Molecular Sciences
|
January 25, 2025
Somatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional Epilepsy
Jana Marie Schwarz, Lena-Luise Becker, Monika Wahle, et al.
Neurology
|
January 9, 2015
Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy
Gudrun Schottmann, Heinz Jungbluth, Ulrike Schara, et al.
Neuropediatrics
|
December 21, 2022
Autoimmune Encephalitis with Autoantibodies to NMDAR1 following Herpes Encephalitis in Children and Adolescents
Annegret Quade, Kevin Rostasy, Ronny Wickström, et al.
Journal of Neurology
|
July 29, 2023
Pediatric de novo movement disorders and ataxia in the context of SARS-CoV-2
Nina-Maria Wilpert, Ana Luísa de Almeida Marcelino, Ellen Knierim, et al.
Annals of Neurology
|
April 22, 2020
Clinical and Magnetic Resonance Imaging Outcome Predictors in Pediatric Anti-N-Methyl-D-Aspartate Receptor Encephalitis
Frederik Bartels, Stephan Krohn, Marc Nikolaus, et al.
Multiple Sclerosis and Related Disorders
|
December 15, 2024
Children with MOG-IgG positive bilateral optic neuritis misdiagnosed as fulminant idiopathic intracranial hypertension
Eva-Maria Wendel, Daniel Tibussek, Nina Barisic, et al.
Cerebral Cortex (New York, N.Y. : 1991)
|
March 28, 2023
Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype
Ellen Knierim, Johannes Vogt, Michael Kintscher, et al.
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Search research articles
Search
Showing results (21-30 of 36) with videos related to
Sort By:
Page
of 4
European Journal of Human Genetics : EJHG
|
November 10, 2016
Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)
Hao Hu, Christoph Hübner, Zoltan Lukacs, et al.
Cancers
|
July 13, 2024
Expression of mGluR5 in Pediatric Hodgkin and Non-Hodgkin lymphoma-A Comparative Analysis of Immunohistochemical and Clinical Findings Regarding the Association between Tumor and Paraneoplastic Neurological Disease
Ingeborg Viezens, Ellen Knierim, Hedwig E Deubzer, et al.
Journal of Medical Genetics
|
November 30, 2018
De novo mutation in <i>ELOVL1</i> causes ichthyosis, <i>acanthosis nigricans</i>, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy
Noomi Mueller, Takayuki Sassa, Susanne Morales-Gonzalez, et al.
International Journal of Molecular Sciences
|
January 25, 2025
Somatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional Epilepsy
Jana Marie Schwarz, Lena-Luise Becker, Monika Wahle, et al.
Neurology
|
January 9, 2015
Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy
Gudrun Schottmann, Heinz Jungbluth, Ulrike Schara, et al.
Neuropediatrics
|
December 21, 2022
Autoimmune Encephalitis with Autoantibodies to NMDAR1 following Herpes Encephalitis in Children and Adolescents
Annegret Quade, Kevin Rostasy, Ronny Wickström, et al.
Journal of Neurology
|
July 29, 2023
Pediatric de novo movement disorders and ataxia in the context of SARS-CoV-2
Nina-Maria Wilpert, Ana Luísa de Almeida Marcelino, Ellen Knierim, et al.
Annals of Neurology
|
April 22, 2020
Clinical and Magnetic Resonance Imaging Outcome Predictors in Pediatric Anti-N-Methyl-D-Aspartate Receptor Encephalitis
Frederik Bartels, Stephan Krohn, Marc Nikolaus, et al.
Multiple Sclerosis and Related Disorders
|
December 15, 2024
Children with MOG-IgG positive bilateral optic neuritis misdiagnosed as fulminant idiopathic intracranial hypertension
Eva-Maria Wendel, Daniel Tibussek, Nina Barisic, et al.
Cerebral Cortex (New York, N.Y. : 1991)
|
March 28, 2023
Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype
Ellen Knierim, Johannes Vogt, Michael Kintscher, et al.
Page
of 4