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 (151-160 of 209) with videos related to

Pageof 21
Sort By:
Clinical Genetics|January 31, 2012
High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher diseaseB Bilir, Z Yapici, C Yalcinkaya, et al.
American Journal of Medical Genetics|June 24, 1998
Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental originY Q Wu, V R Sutton, E Nickerson, et al.
Nature Genetics|April 1, 1992
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1AJ R Lupski, C A Wise, A Kuwano, et al.
Gene|January 1, 1981
In vitro and in vivo manipulations of bacteriophage Mu DNA: cloning of Mu ends and construction of mini-Mu's carrying selectable markersG Chaconas, F J de Bruijn, M J Casadaban, et al.
Neurology|August 12, 2004
SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucomaR Hirano, H Takashima, F Umehara, et al.
The Journal of Biological Chemistry|October 14, 1994
Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promotersU Suter, G J Snipes, R Schoener-Scott, et al.
American Journal of Medical Genetics|September 15, 1993
Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletionR T Zori, J R Lupski, Z Heju, et al.
Clinical Genetics|March 21, 2002
Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotypeP Stankiewicz, S S Parka, S E Holder, et al.
Nature Genetics|September 6, 2000
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndromeN Katsanis, P L Beales, M O Woods, et al.
Annals of Neurology|May 13, 1999
Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestationsK Inoue, H Osaka, K Imaizumi, et al.
Pageof 21

Showing results (151-160 of 209) with videos related to

Sort By:
Pageof 21
Clinical Genetics|January 31, 2012
High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher diseaseB Bilir, Z Yapici, C Yalcinkaya, et al.
American Journal of Medical Genetics|June 24, 1998
Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental originY Q Wu, V R Sutton, E Nickerson, et al.
Nature Genetics|April 1, 1992
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1AJ R Lupski, C A Wise, A Kuwano, et al.
Gene|January 1, 1981
In vitro and in vivo manipulations of bacteriophage Mu DNA: cloning of Mu ends and construction of mini-Mu's carrying selectable markersG Chaconas, F J de Bruijn, M J Casadaban, et al.
Neurology|August 12, 2004
SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucomaR Hirano, H Takashima, F Umehara, et al.
The Journal of Biological Chemistry|October 14, 1994
Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promotersU Suter, G J Snipes, R Schoener-Scott, et al.
American Journal of Medical Genetics|September 15, 1993
Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletionR T Zori, J R Lupski, Z Heju, et al.
Clinical Genetics|March 21, 2002
Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotypeP Stankiewicz, S S Parka, S E Holder, et al.
Nature Genetics|September 6, 2000
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndromeN Katsanis, P L Beales, M O Woods, et al.
Annals of Neurology|May 13, 1999
Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestationsK Inoue, H Osaka, K Imaizumi, et al.
Pageof 21