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Marjan Huizing

Showing results (111-120 of 130) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|July 23, 2005
Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cellsSreenivasulu Chintala, Wei Li, M Lynn Lamoreux, et al.
Brain : a Journal of Neurology|November 19, 2008
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategySaskia B Wortmann, Richard J T Rodenburg, An Jonckheere, et al.
Investigative Ophthalmology & Visual Science|August 29, 2007
Analysis of ocular hypopigmentation in Rab38cht/cht miceBrian P Brooks, Denise M Larson, Chi-Chao Chan, et al.
Human Gene Therapy|April 27, 2011
Hereditary inclusion body myopathy: single patient response to intravenous dosing of GNE gene lipoplexGregory Nemunaitis, Chris M Jay, Phillip B Maples, et al.
Neuromuscular Disorders : NMD|September 4, 2014
Atypical presentation of GNE myopathy with asymmetric hand weaknessJohn Karl L de Dios, Joseph A Shrader, Galen O Joe, et al.
Neurology|March 6, 2016
Neurologic involvement in patients with atypical Chediak-Higashi diseaseWendy J Introne, Wendy Westbroek, Andrew R Cullinane, et al.
Molecular Genetics & Genomic Medicine|July 19, 2017
Identification of an <i>Alu</i> element-mediated deletion in the promoter region of <i>GNE</i> in siblings with GNE myopathyJennifer Garland, Joshi Stephen, Bradley Class, et al.
Molecular Genetics and Metabolism|May 5, 2016
New observation of sialuria prompts detection of liver tumor in previously reported patientNeena L Champaigne, Jules G Leroy, Priya S Kishnani, et al.
Neurology|February 15, 2017
Neurologic involvement in patients with atypical Chediak-Higashi diseaseWendy J Introne, Wendy Westbroek, Catherine A Groden, et al.
Annals of Neurology|June 27, 2009
Free sialic acid storage disease without sialuriaFanny Mochel, Bingzhi Yang, Julie Barritault, et al.
Pageof 13

Showing results (111-120 of 130) with videos related to

Sort By:
Pageof 13
Proceedings of the National Academy of Sciences of the United States of America|July 23, 2005
Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cellsSreenivasulu Chintala, Wei Li, M Lynn Lamoreux, et al.
Brain : a Journal of Neurology|November 19, 2008
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategySaskia B Wortmann, Richard J T Rodenburg, An Jonckheere, et al.
Investigative Ophthalmology & Visual Science|August 29, 2007
Analysis of ocular hypopigmentation in Rab38cht/cht miceBrian P Brooks, Denise M Larson, Chi-Chao Chan, et al.
Human Gene Therapy|April 27, 2011
Hereditary inclusion body myopathy: single patient response to intravenous dosing of GNE gene lipoplexGregory Nemunaitis, Chris M Jay, Phillip B Maples, et al.
Neuromuscular Disorders : NMD|September 4, 2014
Atypical presentation of GNE myopathy with asymmetric hand weaknessJohn Karl L de Dios, Joseph A Shrader, Galen O Joe, et al.
Neurology|March 6, 2016
Neurologic involvement in patients with atypical Chediak-Higashi diseaseWendy J Introne, Wendy Westbroek, Andrew R Cullinane, et al.
Molecular Genetics & Genomic Medicine|July 19, 2017
Identification of an <i>Alu</i> element-mediated deletion in the promoter region of <i>GNE</i> in siblings with GNE myopathyJennifer Garland, Joshi Stephen, Bradley Class, et al.
Molecular Genetics and Metabolism|May 5, 2016
New observation of sialuria prompts detection of liver tumor in previously reported patientNeena L Champaigne, Jules G Leroy, Priya S Kishnani, et al.
Neurology|February 15, 2017
Neurologic involvement in patients with atypical Chediak-Higashi diseaseWendy J Introne, Wendy Westbroek, Catherine A Groden, et al.
Annals of Neurology|June 27, 2009
Free sialic acid storage disease without sialuriaFanny Mochel, Bingzhi Yang, Julie Barritault, et al.
Pageof 13