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

Suzanne Hart

Showing results (31-40 of 37) with videos related to

Pageof 4
Sort By:
You have reached the last page of results.This site can display upto 37 results.
American Journal of Medical Genetics. Part A|May 27, 2010
Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1Irini Manoli, Gretchen Golas, Wendy Westbroek, et al.
European Journal of Human Genetics : EJHG|December 19, 2008
The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/PSun J Choi, Mary L Marazita, P Suzanne Hart, et al.
American Journal of Human Genetics|August 12, 2009
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failureMartina Zivná, Helena Hůlková, Marie Matignon, et al.
Clinical Journal of the American Society of Nephrology : CJASN|February 11, 2014
Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1Anthony J Bleyer, Stanislav Kmoch, Corinne Antignac, et al.
Blood|August 17, 2010
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3pMeral Gunay-Aygun, Yifat Zivony-Elboum, Fatma Gumruk, et al.
Nature Genetics|February 12, 2013
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencingAndrew Kirby, Andreas Gnirke, David B Jaffe, et al.
Nephron. Physiology|February 26, 2013
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsGraciana Jaureguiberry, Muriel De la Dure-Molla, David Parry, et al.
Pageof 4

Showing results (31-40 of 37) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 37 results.
American Journal of Medical Genetics. Part A|May 27, 2010
Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1Irini Manoli, Gretchen Golas, Wendy Westbroek, et al.
European Journal of Human Genetics : EJHG|December 19, 2008
The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/PSun J Choi, Mary L Marazita, P Suzanne Hart, et al.
American Journal of Human Genetics|August 12, 2009
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failureMartina Zivná, Helena Hůlková, Marie Matignon, et al.
Clinical Journal of the American Society of Nephrology : CJASN|February 11, 2014
Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1Anthony J Bleyer, Stanislav Kmoch, Corinne Antignac, et al.
Blood|August 17, 2010
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3pMeral Gunay-Aygun, Yifat Zivony-Elboum, Fatma Gumruk, et al.
Nature Genetics|February 12, 2013
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencingAndrew Kirby, Andreas Gnirke, David B Jaffe, et al.
Nephron. Physiology|February 26, 2013
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsGraciana Jaureguiberry, Muriel De la Dure-Molla, David Parry, et al.
Pageof 4