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Sean Ennis

Showing results (21-30 of 58) with videos related to

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Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B|May 1, 2013
High-resolution genome-wide copy-number analyses identify localized copy-number alterations in Ewing sarcomaMiriam Lynn, Yuexiang Wang, Jaime Slater, et al.
Molecular Genetics and Metabolism|May 22, 2012
Identification of a mutation in LARS as a novel cause of infantile hepatopathyJillian P Casey, Paul McGettigan, Niamh Lynam-Lennon, et al.
European Journal of Human Genetics : EJHG|August 29, 2013
A novel locus for episodic ataxia:UBR4 the likely candidateJudith Conroy, Paul McGettigan, Raymond Murphy, et al.
JIMD Reports|August 5, 2015
Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?Jillian P Casey, Ellen Crushell, Kyle Thompson, et al.
Epilepsy & Behavior Case Reports|August 10, 2016
Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorderNicholas M Allen, Judith Conroy, Thierry Deonna, et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases|June 25, 2008
Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALSMiriam H Meisler, Carsten Russ, Kate T Montgomery, et al.
Scientific Reports|November 3, 2015
NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairmentJillian P Casey, Svein I Støve, Catherine McGorrian, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|October 11, 2008
Fine mapping and association studies in a candidate region for autism on chromosome 2q31-q32Judith Conroy, Lynne Cochrane, Richard J L Anney, et al.
Scientific Reports|May 5, 2018
Author Correction: The Irish DNA Atlas: Revealing Fine-Scale Population Structure and History within IrelandEdmund Gilbert, Seamus O'Reilly, Michael Merrigan, et al.
Epilepsia|December 10, 2015
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansionNicholas M Allen, Judith Conroy, Amre Shahwan, et al.
Pageof 6

Showing results (21-30 of 58) with videos related to

Sort By:
Pageof 6
Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B|May 1, 2013
High-resolution genome-wide copy-number analyses identify localized copy-number alterations in Ewing sarcomaMiriam Lynn, Yuexiang Wang, Jaime Slater, et al.
Molecular Genetics and Metabolism|May 22, 2012
Identification of a mutation in LARS as a novel cause of infantile hepatopathyJillian P Casey, Paul McGettigan, Niamh Lynam-Lennon, et al.
European Journal of Human Genetics : EJHG|August 29, 2013
A novel locus for episodic ataxia:UBR4 the likely candidateJudith Conroy, Paul McGettigan, Raymond Murphy, et al.
JIMD Reports|August 5, 2015
Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?Jillian P Casey, Ellen Crushell, Kyle Thompson, et al.
Epilepsy & Behavior Case Reports|August 10, 2016
Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorderNicholas M Allen, Judith Conroy, Thierry Deonna, et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases|June 25, 2008
Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALSMiriam H Meisler, Carsten Russ, Kate T Montgomery, et al.
Scientific Reports|November 3, 2015
NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairmentJillian P Casey, Svein I Støve, Catherine McGorrian, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|October 11, 2008
Fine mapping and association studies in a candidate region for autism on chromosome 2q31-q32Judith Conroy, Lynne Cochrane, Richard J L Anney, et al.
Scientific Reports|May 5, 2018
Author Correction: The Irish DNA Atlas: Revealing Fine-Scale Population Structure and History within IrelandEdmund Gilbert, Seamus O'Reilly, Michael Merrigan, et al.
Epilepsia|December 10, 2015
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansionNicholas M Allen, Judith Conroy, Amre Shahwan, et al.
Pageof 6