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Angela Abicht

Showing results (91-100 of 102) with videos related to

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Breast (Edinburgh, Scotland)|January 24, 2025
Joint analysis of germline genetic data from over 29,000 cases with suspected hereditary breast and ovarian cancer (HBOC) as part of the NASGE initiativeJan Henkel, Andreas Laner, Melanie Locher, et al.
Journal of Neuromuscular Diseases|February 13, 2016
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular TransmissionAmina Chaouch, Vito Porcelli, Daniel Cox, et al.
Journal of Neuromuscular Diseases|July 10, 2023
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient CohortStephanie Kleinle, Veronika Scholz, Anna Benet-Pagés, et al.
Brain : a Journal of Neurology|June 22, 2014
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophySophie Nicole, Amina Chaouch, Torberg Torbergsen, et al.
JAMA|July 25, 2014
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficienciesRobert W Taylor, Angela Pyle, Helen Griffin, et al.
Brain : a Journal of Neurology|December 20, 2012
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?Vivienne C M Neeve, David C Samuels, Laurence A Bindoff, et al.
Communications Biology|February 14, 2026
Mitochondrial energetic failure underlies FLVCR1-related sensory neuropathyFrancesca Bertino, Diletta Isabella Zanin Venturini, Eleonora Grasso, et al.
Journal of Neurology|October 7, 2011
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutationsVelina Guergueltcheva, Juliane S Müller, Marina Dusl, et al.
American Journal of Human Genetics|February 12, 2011
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defectJan Senderek, Juliane S Müller, Marina Dusl, et al.
Journal of Medical Genetics|July 29, 2021
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrumClara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, et al.
Pageof 11

Showing results (91-100 of 102) with videos related to

Sort By:
Pageof 11
Breast (Edinburgh, Scotland)|January 24, 2025
Joint analysis of germline genetic data from over 29,000 cases with suspected hereditary breast and ovarian cancer (HBOC) as part of the NASGE initiativeJan Henkel, Andreas Laner, Melanie Locher, et al.
Journal of Neuromuscular Diseases|February 13, 2016
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular TransmissionAmina Chaouch, Vito Porcelli, Daniel Cox, et al.
Journal of Neuromuscular Diseases|July 10, 2023
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient CohortStephanie Kleinle, Veronika Scholz, Anna Benet-Pagés, et al.
Brain : a Journal of Neurology|June 22, 2014
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophySophie Nicole, Amina Chaouch, Torberg Torbergsen, et al.
JAMA|July 25, 2014
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficienciesRobert W Taylor, Angela Pyle, Helen Griffin, et al.
Brain : a Journal of Neurology|December 20, 2012
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?Vivienne C M Neeve, David C Samuels, Laurence A Bindoff, et al.
Communications Biology|February 14, 2026
Mitochondrial energetic failure underlies FLVCR1-related sensory neuropathyFrancesca Bertino, Diletta Isabella Zanin Venturini, Eleonora Grasso, et al.
Journal of Neurology|October 7, 2011
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutationsVelina Guergueltcheva, Juliane S Müller, Marina Dusl, et al.
American Journal of Human Genetics|February 12, 2011
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defectJan Senderek, Juliane S Müller, Marina Dusl, et al.
Journal of Medical Genetics|July 29, 2021
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrumClara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, et al.
Pageof 11