Showing results (1-10 of 16) with videos related to

Sort By:
Pageof 2
International Journal of Nephrology|June 11, 2011
Nephronophthisis: a genetically diverse ciliopathyRoslyn J Simms, Ann Marie Hynes, Lorraine Eley, et al.
Clinical Kidney Journal|August 8, 2015
Successful treatment of hypercalcaemia associated with a CYP24A1 mutation with fluconazoleJudith Sayers, Ann Marie Hynes, Shalabh Srivastava, et al.
Cellular and Molecular Life Sciences : CMLS|October 1, 2011
Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal developmentRoslyn J Simms, Ann Marie Hynes, Lorraine Eley, et al.
NDT Plus|May 19, 2015
Senior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian familyAlireza Haghighi, Mohamed Al-Hamed, Safa Al-Hissi, et al.
Plos One|December 24, 2011
Clinical and functional characterization of URAT1 variantsVelibor Tasic, Ann Marie Hynes, Kenichiro Kitamura, et al.
BMC Medical Genetics|June 5, 2015
Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case reportEmma Montgomery, John A Sayer, Laura A Baines, et al.
Health Technology Assessment (Winchester, England)|December 28, 2017
Surveillance versus ablation for incidentally diagnosed small renal tumours: the SURAB feasibility RCTNaeem Soomro, Jan Lecouturier, Deborah D Stocken, et al.
Plos One|October 3, 2012
Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndromeYu-Zhu Cheng, Lorraine Eley, Ann-Marie Hynes, et al.
Cilia|February 25, 2014
Functional modelling of a novel mutation in BBS5Mohamed H Al-Hamed, Charles van Lennep, Ann Marie Hynes, et al.
BMJ Open|January 24, 2019
Adjuvant rituximab, a potential treatment for the young patient with Graves' hyperthyroidism (RiGD): study protocol for a single-arm, single-stage, phase II trialMichael Cole, Ann Marie Hynes, Denise Howel, et al.
Pageof 2