Showing results (11-20 of 20) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
American Journal of Medical Genetics. Part A|January 5, 2011
Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplicationChristopher N Vlangos, Amanda Siuniak, Todd Ackley, et al.
Plos One|November 26, 2009
A novel TRPC6 mutation that causes childhood FSGSSaskia F Heeringa, Clemens C Möller, Jianyang Du, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|March 18, 2008
Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic responseSanthosh Girirajan, Paula M Hauck, Stephen Williams, et al.
Genetic Testing|April 1, 2008
Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCRHoa T Truong, Sara Solaymani-Kohal, Kevin R Baker, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 11, 2007
Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS)Rasheed Gbadegesin, Bernward G Hinkes, Bethan E Hoskins, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 23, 2010
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)Dominik S Schoeb, Gil Chernin, Saskia F Heeringa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2016
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and GenomicsSarah S Kalia, Kathy Adelman, Sherri J Bale, et al.
Plos Genetics|January 24, 2009
A systematic approach to mapping recessive disease genes in individuals from outbred populationsFriedhelm Hildebrandt, Saskia F Heeringa, Franz Rüschendorf, et al.
Nature Genetics|November 7, 2006
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversibleBernward Hinkes, Roger C Wiggins, Rasheed Gbadegesin, et al.
The Journal of Clinical Investigation|May 5, 2011
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafnessSaskia F Heeringa, Gil Chernin, Moumita Chaki, et al.
Pageof 2