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Showing results (381-390 of 488) with videos related to

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Neuromuscular Disorders : NMD|January 13, 2010
Incontinetia pigmenti-related myopathy or unsolved "double trouble"?H B Huttner, G Richter, A Jünemann, et al.
Lung Cancer (Amsterdam, Netherlands)|July 11, 2006
LKB1 mutation in large cell carcinoma of the lungDiansheng Zhong, Lizheng Guo, Itziar de Aguirre, et al.
Clinical Genetics|March 1, 1995
Autosomal recessive retinitis pigmentosa locus maps on chromosome 1q in a large consanguineous family from PakistanJ Leutelt, R Oehlmann, F Younus, et al.
Molecular Genetics and Metabolism Reports|November 30, 2016
Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)H Amartino, R Ceci, F Masllorens, et al.
Nature Genetics|October 1, 1992
Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucinsA Meindl, W Berger, T Meitinger, et al.
Human Mutation|January 1, 1994
Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosaG Grüning, J M Millan, M Meins, et al.
American Journal of Nephrology|January 1, 1988
Late manifestation of autosomal-recessive polycystic kidney disease in two sistersH P Neumann, K Zerres, C L Fischer, et al.
Archives of Dermatological Research|January 1, 1989
Gene diagnosis in X-linked ichthyosisF H Herrmann, B Wirth, K Wulff, et al.
Neurogenetics|August 5, 2003
Association of late-onset Alzheimer disease with a genotype of PLAU, the gene encoding urokinase-type plasminogen activator on chromosome 10q22.2U Finckh, K van Hadeln, T Müller-Thomsen, et al.
Genomics|May 1, 1989
Human monoamine oxidase A and B genes map to Xp 11.23 and are deleted in a patient with Norrie diseaseN C Lan, C Heinzmann, A Gal, et al.
Pageof 49

Showing results (381-390 of 488) with videos related to

Sort By:
Pageof 49
Neuromuscular Disorders : NMD|January 13, 2010
Incontinetia pigmenti-related myopathy or unsolved "double trouble"?H B Huttner, G Richter, A Jünemann, et al.
Lung Cancer (Amsterdam, Netherlands)|July 11, 2006
LKB1 mutation in large cell carcinoma of the lungDiansheng Zhong, Lizheng Guo, Itziar de Aguirre, et al.
Clinical Genetics|March 1, 1995
Autosomal recessive retinitis pigmentosa locus maps on chromosome 1q in a large consanguineous family from PakistanJ Leutelt, R Oehlmann, F Younus, et al.
Molecular Genetics and Metabolism Reports|November 30, 2016
Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)H Amartino, R Ceci, F Masllorens, et al.
Nature Genetics|October 1, 1992
Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucinsA Meindl, W Berger, T Meitinger, et al.
Human Mutation|January 1, 1994
Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosaG Grüning, J M Millan, M Meins, et al.
American Journal of Nephrology|January 1, 1988
Late manifestation of autosomal-recessive polycystic kidney disease in two sistersH P Neumann, K Zerres, C L Fischer, et al.
Archives of Dermatological Research|January 1, 1989
Gene diagnosis in X-linked ichthyosisF H Herrmann, B Wirth, K Wulff, et al.
Neurogenetics|August 5, 2003
Association of late-onset Alzheimer disease with a genotype of PLAU, the gene encoding urokinase-type plasminogen activator on chromosome 10q22.2U Finckh, K van Hadeln, T Müller-Thomsen, et al.
Genomics|May 1, 1989
Human monoamine oxidase A and B genes map to Xp 11.23 and are deleted in a patient with Norrie diseaseN C Lan, C Heinzmann, A Gal, et al.
Pageof 49