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Showing results (71-80 of 87) with videos related to

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Journal of Neurology|April 12, 2017
The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical researchLibby Wood, Isabell Cordts, Antonio Atalaia, et al.
Neuromuscular Disorders : NMD|June 26, 2007
Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN)Olga Koop, Anja Schirmacher, Eva Nelis, et al.
Human Mutation|May 23, 2013
Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial diseaseEmma L Blakely, John W Yarham, Charlotte L Alston, et al.
JAMA Neurology|October 18, 2016
Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented GliaDavid S Lynch, Wei Jia Zhang, Rahul Lakshmanan, et al.
Journal of Medical Genetics|July 10, 2009
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testingR W Labrum, S Rajakulendran, T D Graves, et al.
Neurology|December 28, 2012
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPANPenelope Hogarth, Allison Gregory, Michael C Kruer, et al.
European Journal of Human Genetics : EJHG|September 2, 2004
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variationOzge Altug Teber, Gabriele Gillessen-Kaesbach, Sven Fischer, et al.
Annals of Neurology|June 14, 2000
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutationsI Nishino, A Spinazzola, A Papadimitriou, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 14, 2018
Mobility shift of beta-dystroglycan as a marker of <i>GMPPB</i> gene-related muscular dystrophyAnna Sarkozy, Silvia Torelli, Rachael Mein, et al.
Nature Genetics|May 3, 2011
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing lossChristopher J Klein, Maria-Victoria Botuyan, Yanhong Wu, et al.
Pageof 9

Showing results (71-80 of 87) with videos related to

Sort By:
Pageof 9
Journal of Neurology|April 12, 2017
The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical researchLibby Wood, Isabell Cordts, Antonio Atalaia, et al.
Neuromuscular Disorders : NMD|June 26, 2007
Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN)Olga Koop, Anja Schirmacher, Eva Nelis, et al.
Human Mutation|May 23, 2013
Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial diseaseEmma L Blakely, John W Yarham, Charlotte L Alston, et al.
JAMA Neurology|October 18, 2016
Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented GliaDavid S Lynch, Wei Jia Zhang, Rahul Lakshmanan, et al.
Journal of Medical Genetics|July 10, 2009
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testingR W Labrum, S Rajakulendran, T D Graves, et al.
Neurology|December 28, 2012
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPANPenelope Hogarth, Allison Gregory, Michael C Kruer, et al.
European Journal of Human Genetics : EJHG|September 2, 2004
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variationOzge Altug Teber, Gabriele Gillessen-Kaesbach, Sven Fischer, et al.
Annals of Neurology|June 14, 2000
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutationsI Nishino, A Spinazzola, A Papadimitriou, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 14, 2018
Mobility shift of beta-dystroglycan as a marker of <i>GMPPB</i> gene-related muscular dystrophyAnna Sarkozy, Silvia Torelli, Rachael Mein, et al.
Nature Genetics|May 3, 2011
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing lossChristopher J Klein, Maria-Victoria Botuyan, Yanhong Wu, et al.
Pageof 9