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J R Lupski

Showing results (181-190 of 209) with videos related to

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Journal of Medical Genetics|January 1, 1997
Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descentV Timmerman, B Rautenstrauss, L T Reiter, et al.
Clinical Genetics|December 12, 2017
Phenotype expansion and development in Kosaki overgrowth syndromeP Gawliński, M Pelc, E Ciara, et al.
Science (New York, N.Y.)|September 20, 1997
Mutation of the Stargardt disease gene (ABCR) in age-related macular degenerationR Allikmets, N F Shroyer, N Singh, et al.
Nature Genetics|June 1, 1992
The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1AP I Patel, B B Roa, A A Welcher, et al.
Cell|July 26, 1991
DNA duplication associated with Charcot-Marie-Tooth disease type 1AJ R Lupski, R M de Oca-Luna, S Slaugenhaupt, et al.
Nature Genetics|December 30, 1999
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletionL Potocki, K S Chen, S S Park, et al.
Neurology|January 12, 2005
An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizuresR Straussberg, L Basel-Vanagaite, S Kivity, et al.
Neuron|September 1, 1996
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelinationL E Warner, M J Hilz, S H Appel, et al.
Human Genetics|December 1, 1996
Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patientsB J Trask, H Mefford, G van den Engh, et al.
Human Genetics|December 6, 2001
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndromeN Liburd, M Ghosh, S Riazuddin, et al.
Pageof 21

Showing results (181-190 of 209) with videos related to

Sort By:
Pageof 21
Journal of Medical Genetics|January 1, 1997
Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descentV Timmerman, B Rautenstrauss, L T Reiter, et al.
Clinical Genetics|December 12, 2017
Phenotype expansion and development in Kosaki overgrowth syndromeP Gawliński, M Pelc, E Ciara, et al.
Science (New York, N.Y.)|September 20, 1997
Mutation of the Stargardt disease gene (ABCR) in age-related macular degenerationR Allikmets, N F Shroyer, N Singh, et al.
Nature Genetics|June 1, 1992
The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1AP I Patel, B B Roa, A A Welcher, et al.
Cell|July 26, 1991
DNA duplication associated with Charcot-Marie-Tooth disease type 1AJ R Lupski, R M de Oca-Luna, S Slaugenhaupt, et al.
Nature Genetics|December 30, 1999
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletionL Potocki, K S Chen, S S Park, et al.
Neurology|January 12, 2005
An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizuresR Straussberg, L Basel-Vanagaite, S Kivity, et al.
Neuron|September 1, 1996
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelinationL E Warner, M J Hilz, S H Appel, et al.
Human Genetics|December 1, 1996
Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patientsB J Trask, H Mefford, G van den Engh, et al.
Human Genetics|December 6, 2001
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndromeN Liburd, M Ghosh, S Riazuddin, et al.
Pageof 21