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Journal of Human Genetics|April 19, 2013
A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian familiesMohamed H Al-Hamed, Essam Al-Sabban, Hamad Al-Mojalli, et al.Journal of the American Society of Nephrology : JASN|October 10, 2014
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosisJan Halbritter, Michelle Baum, Ann Marie Hynes, et al.Psychiatric Services (Washington, D.C.)|May 26, 2018
The Influence of Team Functioning and Workload on Sustainability of Trauma-Focused Evidence-Based PsychotherapiesDavid C Mohr, Craig S Rosen, Paula P Schnurr, et al.Clinical Journal of the American Society of Nephrology : CJASN|November 18, 2017
Prospective Evaluation of Kidney Disease in Joubert SyndromeLeah R Fleming, Daniel A Doherty, Melissa A Parisi, et al.Nature Genetics|July 10, 2007
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosisMassimo Attanasio, N Henriette Uhlenhaut, Vitor H Sousa, et al.International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society|October 3, 2006
Identification of genes associated with ovarian cancer metastasis using microarray expression analysisJ M Lancaster, H K Dressman, J P Clarke, et al.Human Genetics|February 20, 2019
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasisAli Amar, Amar J Majmundar, Ihsan Ullah, et al.Human Molecular Genetics|February 23, 2010
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expressionFrank Zaucke, Joana M Boehnlein, Sarah Steffens, et al.Kidney International|October 26, 2007
Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisisM T F Wolf, S Saunier, J F O'Toole, et al.Brain Communications|August 23, 2021
Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndromeLaura Powell, Eric Olinger, Sarah Wedderburn, et al.Pageof 52