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Holger Prokisch

Showing results (91-100 of 394) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|October 15, 2024
Paroxysmal Non-Kinesigenic Dyskinesias Associated with Biallelic POLG Variants: A Case ReportBarbara Castellotti, Cinzia Gellera, Davide Caputo, et al.
Neuropediatrics|September 16, 2017
Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related EpilepsyMatias Wagner, Mirjana Gusic, Roman Günthner, et al.
Metabolic Brain Disease|August 10, 2016
Neonatal encephalocardiomyopathy caused by mutations in VARS2Fabian Baertling, Bader Alhaddad, Annette Seibt, et al.
Bone Reports|August 12, 2021
A novel cryptic splice site mutation in <i>COL1A2</i> as a cause of osteogenesis imperfectaAhmed El-Gazzar, Johannes A Mayr, Barbara Voraberger, et al.
Metabolic Brain Disease|January 19, 2016
EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosumKatharina Danhauser, Tobias B Haack, Bader Alhaddad, et al.
Frontiers in Genetics|July 29, 2021
Biallelic <i>COA7</i>-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese PatientRui Ban, Zhimei Liu, Masaru Shimura, et al.
American Journal of Human Genetics|December 14, 2011
Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathwayJohannes A Mayr, Peter Freisinger, Kurt Schlachter, et al.
Parkinsonism & Related Disorders|October 2, 2022
ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcomeGiulia Straccia, Chiara Reale, Massimo Castellani, et al.
BMC Cancer|April 17, 2015
A mutation screening of oncogenes, tumor suppressor gene TP53 and nuclear encoded mitochondrial complex I genes in oncocytic thyroid tumorsCecilia Evangelisti, Dario de Biase, Ivana Kurelac, et al.
Journal of Neurology|February 21, 2008
Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutationJügen Prestel, Klaus Gempel, Till-Karsten Hauser, et al.
Pageof 40

Showing results (91-100 of 394) with videos related to

Sort By:
Pageof 40
Movement Disorders : Official Journal of the Movement Disorder Society|October 15, 2024
Paroxysmal Non-Kinesigenic Dyskinesias Associated with Biallelic POLG Variants: A Case ReportBarbara Castellotti, Cinzia Gellera, Davide Caputo, et al.
Neuropediatrics|September 16, 2017
Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related EpilepsyMatias Wagner, Mirjana Gusic, Roman Günthner, et al.
Metabolic Brain Disease|August 10, 2016
Neonatal encephalocardiomyopathy caused by mutations in VARS2Fabian Baertling, Bader Alhaddad, Annette Seibt, et al.
Bone Reports|August 12, 2021
A novel cryptic splice site mutation in <i>COL1A2</i> as a cause of osteogenesis imperfectaAhmed El-Gazzar, Johannes A Mayr, Barbara Voraberger, et al.
Metabolic Brain Disease|January 19, 2016
EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosumKatharina Danhauser, Tobias B Haack, Bader Alhaddad, et al.
Frontiers in Genetics|July 29, 2021
Biallelic <i>COA7</i>-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese PatientRui Ban, Zhimei Liu, Masaru Shimura, et al.
American Journal of Human Genetics|December 14, 2011
Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathwayJohannes A Mayr, Peter Freisinger, Kurt Schlachter, et al.
Parkinsonism & Related Disorders|October 2, 2022
ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcomeGiulia Straccia, Chiara Reale, Massimo Castellani, et al.
BMC Cancer|April 17, 2015
A mutation screening of oncogenes, tumor suppressor gene TP53 and nuclear encoded mitochondrial complex I genes in oncocytic thyroid tumorsCecilia Evangelisti, Dario de Biase, Ivana Kurelac, et al.
Journal of Neurology|February 21, 2008
Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutationJügen Prestel, Klaus Gempel, Till-Karsten Hauser, et al.
Pageof 40