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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
September 26, 2022
Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially
Adela Della Marina, Annikki Bertolini, Andreas Wegener-Panzer, et al.
Journal of Neurology
|
December 21, 2017
Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum
Martin Krenn, Elisabeth Salzer, Ingrid Simonitsch-Klupp, et al.
Neurology. Genetics
|
May 9, 2025
Holistic Exome-Based Genetic Testing in Adults With Epilepsy
Martin Krenn, Matias Wagner, Karin Trimmel, et al.
Clinical Genetics
|
October 3, 2022
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome
Bernt Popp, Melanie Brugger, Sibylle Poschmann, et al.
Human Molecular Genetics
|
February 18, 2022
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders
Theresa Brunet, Riccardo Berutti, Veronika Dill, et al.
European Journal of Human Genetics : EJHG
|
November 10, 2020
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1
Bart Appelhof, Matias Wagner, Julia Hoefele, et al.
Clinical Genetics
|
September 7, 2021
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
Amelie T van der Ven, Jessika Johannsen, Fanny Kortüm, et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
|
January 22, 2020
ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response
Marius Gasser, Ponghatai Boonsimma, Wiracha Netbaramee, et al.
NAR Genomics and Bioinformatics
|
September 13, 2021
CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph
Chengyao Peng, Simon Dieck, Alexander Schmid, et al.
The Journal of Clinical Investigation
|
July 3, 2025
SPNS1 variants cause multiorgan disease and implicate lysophospholipid transport as critical for mTOR-regulated lipid homeostasis
Menglan He, Mei Ding, Michaela Chocholouskova, et al.
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of 19
Search research articles
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Showing results (71-80 of 188) with videos related to
Sort By:
Page
of 19
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
September 26, 2022
Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially
Adela Della Marina, Annikki Bertolini, Andreas Wegener-Panzer, et al.
Journal of Neurology
|
December 21, 2017
Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum
Martin Krenn, Elisabeth Salzer, Ingrid Simonitsch-Klupp, et al.
Neurology. Genetics
|
May 9, 2025
Holistic Exome-Based Genetic Testing in Adults With Epilepsy
Martin Krenn, Matias Wagner, Karin Trimmel, et al.
Clinical Genetics
|
October 3, 2022
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome
Bernt Popp, Melanie Brugger, Sibylle Poschmann, et al.
Human Molecular Genetics
|
February 18, 2022
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders
Theresa Brunet, Riccardo Berutti, Veronika Dill, et al.
European Journal of Human Genetics : EJHG
|
November 10, 2020
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1
Bart Appelhof, Matias Wagner, Julia Hoefele, et al.
Clinical Genetics
|
September 7, 2021
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
Amelie T van der Ven, Jessika Johannsen, Fanny Kortüm, et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
|
January 22, 2020
ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response
Marius Gasser, Ponghatai Boonsimma, Wiracha Netbaramee, et al.
NAR Genomics and Bioinformatics
|
September 13, 2021
CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph
Chengyao Peng, Simon Dieck, Alexander Schmid, et al.
The Journal of Clinical Investigation
|
July 3, 2025
SPNS1 variants cause multiorgan disease and implicate lysophospholipid transport as critical for mTOR-regulated lipid homeostasis
Menglan He, Mei Ding, Michaela Chocholouskova, et al.
Page
of 19