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Martin Lammens

Showing results (61-70 of 91) with videos related to

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Journal of Medical Genetics|September 9, 2020
Delineation of a new fibrillin-2-opathy with evidence for a role of <i>FBN2</i> in the pathogenesis of carpal tunnel syndromeSilke Peeters, Arne Decramer, Stuart Alan Cain, et al.
Neurology|November 8, 2014
Sporadic late-onset nemaline myopathy with MGUS: long-term follow-up after melphalan and SCTNicol C Voermans, Olivier Benveniste, Monique C Minnema, et al.
Journal of Neurology|January 19, 2013
A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) geneSissel Løseth, Nicol C Voermans, Torberg Torbergsen, et al.
Mitochondrion|September 28, 2011
Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphologyAn I Jonckheere, Merei Huigsloot, Martin Lammens, et al.
European Journal of Human Genetics : EJHG|November 11, 2010
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathwayTjitske Kleefstra, Saskia B Wortmann, Richard J T Rodenburg, et al.
Virchows Archiv : an International Journal of Pathology|January 16, 2022
Shallow whole-genome sequencing: a useful, easy to apply molecular technique for CNA detection on FFPE tumor tissue-a glioma-driven studyKim Van der Eecken, Malaïka Van der Linden, Lennart Raman, et al.
Journal of Inherited Metabolic Disease|June 20, 2020
Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndromePippa Staps, William B Rizzo, Frédéric M Vaz, et al.
Brain : a Journal of Neurology|June 9, 2009
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathyKristl G Claeys, Stephan Züchner, Marina Kennerson, et al.
Cerebellum (London, England)|December 19, 2024
Uneven Distribution of Purkinje Cell Injury in the Cerebellar Vermis of Term Neonates with Hypoxic-Ischemic EncephalopathyKim V Annink, Ilona C E van Leeuwen, Nina A Smeets, et al.
European Journal of Human Genetics : EJHG|August 22, 2013
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxaThatjana Gardeitchik, Miski Mohamed, Björn Fischer, et al.
Pageof 10

Showing results (61-70 of 91) with videos related to

Sort By:
Pageof 10
Journal of Medical Genetics|September 9, 2020
Delineation of a new fibrillin-2-opathy with evidence for a role of <i>FBN2</i> in the pathogenesis of carpal tunnel syndromeSilke Peeters, Arne Decramer, Stuart Alan Cain, et al.
Neurology|November 8, 2014
Sporadic late-onset nemaline myopathy with MGUS: long-term follow-up after melphalan and SCTNicol C Voermans, Olivier Benveniste, Monique C Minnema, et al.
Journal of Neurology|January 19, 2013
A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) geneSissel Løseth, Nicol C Voermans, Torberg Torbergsen, et al.
Mitochondrion|September 28, 2011
Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphologyAn I Jonckheere, Merei Huigsloot, Martin Lammens, et al.
European Journal of Human Genetics : EJHG|November 11, 2010
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathwayTjitske Kleefstra, Saskia B Wortmann, Richard J T Rodenburg, et al.
Virchows Archiv : an International Journal of Pathology|January 16, 2022
Shallow whole-genome sequencing: a useful, easy to apply molecular technique for CNA detection on FFPE tumor tissue-a glioma-driven studyKim Van der Eecken, Malaïka Van der Linden, Lennart Raman, et al.
Journal of Inherited Metabolic Disease|June 20, 2020
Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndromePippa Staps, William B Rizzo, Frédéric M Vaz, et al.
Brain : a Journal of Neurology|June 9, 2009
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathyKristl G Claeys, Stephan Züchner, Marina Kennerson, et al.
Cerebellum (London, England)|December 19, 2024
Uneven Distribution of Purkinje Cell Injury in the Cerebellar Vermis of Term Neonates with Hypoxic-Ischemic EncephalopathyKim V Annink, Ilona C E van Leeuwen, Nina A Smeets, et al.
European Journal of Human Genetics : EJHG|August 22, 2013
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxaThatjana Gardeitchik, Miski Mohamed, Björn Fischer, et al.
Pageof 10