Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

J R Lupski

Showing results (171-180 of 209) with videos related to

Pageof 21
Sort By:
American Journal of Medical Genetics|September 11, 1995
Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridizationR C Juyal, F Greenberg, G A Mengden, et al.
American Journal of Human Genetics|December 1, 1991
Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2)F Greenberg, V Guzzetta, R Montes de Oca-Luna, et al.
Science (New York, N.Y.)|September 22, 2001
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorderN Katsanis, S J Ansley, J L Badano, et al.
American Journal of Human Genetics|February 17, 2001
Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other lociP L Beales, N Katsanis, R A Lewis, et al.
Genomics|August 17, 2000
Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene eraR A Britton, S M Chen, D Wallis, et al.
Neurology|April 13, 2011
Olfactory copy number association with age at onset of Alzheimer diseaseC A Shaw, Y Li, J Wiszniewska, et al.
Translational Psychiatry|November 22, 2012
Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimer's diseaseY Li, C A Shaw, I Sheffer, et al.
The New England Journal of Medicine|July 8, 1993
Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 geneB B Roa, C A Garcia, U Suter, et al.
American Journal of Medical Genetics|March 29, 1996
Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)F Greenberg, R A Lewis, L Potocki, et al.
Nature Genetics|October 1, 1993
Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1AB B Roa, C A Garcia, L Pentao, et al.
Pageof 21

Showing results (171-180 of 209) with videos related to

Sort By:
Pageof 21
American Journal of Medical Genetics|September 11, 1995
Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridizationR C Juyal, F Greenberg, G A Mengden, et al.
American Journal of Human Genetics|December 1, 1991
Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2)F Greenberg, V Guzzetta, R Montes de Oca-Luna, et al.
Science (New York, N.Y.)|September 22, 2001
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorderN Katsanis, S J Ansley, J L Badano, et al.
American Journal of Human Genetics|February 17, 2001
Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other lociP L Beales, N Katsanis, R A Lewis, et al.
Genomics|August 17, 2000
Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene eraR A Britton, S M Chen, D Wallis, et al.
Neurology|April 13, 2011
Olfactory copy number association with age at onset of Alzheimer diseaseC A Shaw, Y Li, J Wiszniewska, et al.
Translational Psychiatry|November 22, 2012
Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimer's diseaseY Li, C A Shaw, I Sheffer, et al.
The New England Journal of Medicine|July 8, 1993
Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 geneB B Roa, C A Garcia, U Suter, et al.
American Journal of Medical Genetics|March 29, 1996
Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)F Greenberg, R A Lewis, L Potocki, et al.
Nature Genetics|October 1, 1993
Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1AB B Roa, C A Garcia, L Pentao, et al.
Pageof 21