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Barbara Plecko

Showing results (71-80 of 113) with videos related to

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Journal of Neurology|September 6, 2011
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth diseaseCarina Fischer, Slave Trajanoski, Lea Papić, et al.
Molecular Medicine (Cambridge, Mass.)|March 1, 2019
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypesAnaïs Begemann, Mario A Acuña, Markus Zweier, et al.
Neuroimage|June 20, 2021
Altered EEG markers of synaptic plasticity in a human model of NMDA receptor deficiency: Anti-NMDA receptor encephalitisSilvano R Gefferie, Angelina Maric, Hanne Critelli, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 11, 2017
Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new casesMajid Alfadhel, Marwan Nashabat, Muhammad Talal Alrifai, et al.
Journal of Inherited Metabolic Disease|October 1, 2021
100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021Gabriele Ramoser, Federica Caferri, Bernhard Radlinger, et al.
Journal of Inherited Metabolic Disease|January 29, 2019
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndromeRajech Sharkia, Klaas J Wierenga, Amit Kessel, et al.
American Journal of Human Genetics|October 21, 2003
eIF2B-related disorders: antenatal onset and involvement of multiple organsMarjo S van der Knaap, Carola G M van Berkel, Jochen Herms, et al.
Journal of Medical Genetics|December 17, 2021
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiencySarah Verheyen, Jasmin Blatterer, Michael R Speicher, et al.
Epilepsia|February 23, 2016
Predictors of and attitudes toward counseling about SUDEP and other epilepsy risk factors among Austrian, German, and Swiss neurologists and neuropediatriciansAdam Strzelczyk, Gerda Zschebek, Sebastian Bauer, et al.
Neurology|September 22, 2017
<i>UFM1</i> founder mutation in the Roma population causes recessive variant of H-ABCEline M C Hamilton, Enrico Bertini, Luba Kalaydjieva, et al.
Pageof 12

Showing results (71-80 of 113) with videos related to

Sort By:
Pageof 12
Journal of Neurology|September 6, 2011
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth diseaseCarina Fischer, Slave Trajanoski, Lea Papić, et al.
Molecular Medicine (Cambridge, Mass.)|March 1, 2019
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypesAnaïs Begemann, Mario A Acuña, Markus Zweier, et al.
Neuroimage|June 20, 2021
Altered EEG markers of synaptic plasticity in a human model of NMDA receptor deficiency: Anti-NMDA receptor encephalitisSilvano R Gefferie, Angelina Maric, Hanne Critelli, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 11, 2017
Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new casesMajid Alfadhel, Marwan Nashabat, Muhammad Talal Alrifai, et al.
Journal of Inherited Metabolic Disease|October 1, 2021
100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021Gabriele Ramoser, Federica Caferri, Bernhard Radlinger, et al.
Journal of Inherited Metabolic Disease|January 29, 2019
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndromeRajech Sharkia, Klaas J Wierenga, Amit Kessel, et al.
American Journal of Human Genetics|October 21, 2003
eIF2B-related disorders: antenatal onset and involvement of multiple organsMarjo S van der Knaap, Carola G M van Berkel, Jochen Herms, et al.
Journal of Medical Genetics|December 17, 2021
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiencySarah Verheyen, Jasmin Blatterer, Michael R Speicher, et al.
Epilepsia|February 23, 2016
Predictors of and attitudes toward counseling about SUDEP and other epilepsy risk factors among Austrian, German, and Swiss neurologists and neuropediatriciansAdam Strzelczyk, Gerda Zschebek, Sebastian Bauer, et al.
Neurology|September 22, 2017
<i>UFM1</i> founder mutation in the Roma population causes recessive variant of H-ABCEline M C Hamilton, Enrico Bertini, Luba Kalaydjieva, et al.
Pageof 12