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Korean Journal of Pediatrics|December 27, 2016
A novel mutation of <i>CLCNKB</i> in a Korean patient of mixed phenotype of Bartter-Gitelman syndromeHee-Won Cho, Sang Taek Lee, Heeyeon Cho, et al.
Pediatric Nephrology (Berlin, Germany)|December 20, 2005
A case of atypical hemolytic uremic syndrome with a transient decrease in complement factor HHyewon Hahn, Eun Young Um, Young Seo Park, et al.
Journal of Korean Medical Science|November 6, 2007
Proteinuria in a boy with infectious mononucleosis, C1q nephropathy, and Dent's diseaseIn Seok Lim, Ki Wook Yun, Kyung Chul Moon, et al.
Biomedical Reports|June 20, 2014
Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 geneYoun Jong Park, Haing Woon Baik, Hae Il Cheong, et al.
Korean Journal of Pediatrics|May 2, 2015
Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829CKeun Hee Choi, Choong Ho Shin, Sei Won Yang, et al.
Pediatric Nephrology (Berlin, Germany)|April 4, 2008
Atypical presentation of distal renal tubular acidosis in two siblingsVelibor Tasic, Petar Korneti, Zoran Gucev, et al.
Pediatric Nephrology (Berlin, Germany)|August 27, 2015
Incomplete penetrance of CD46 mutation causing familial atypical hemolytic uremic syndromeDivya Bhatia, Priyanka Khandelwal, Aditi Sinha, et al.
Indian Journal of Pediatrics|December 6, 2015
Congenital Chloride Diarrhea - Novel Mutation in SLC26A3 GeneSwati Bhardwaj, Deepti Pandit, Aditi Sinha, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|May 20, 2009
Nephrogenic diabetes insipidus due to a novel AVPR2 mutationOnur Sakallioglu, Mehmet Emre Tascilar, Suleyman Kalman, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|December 25, 2002
ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a childHyewon Hahn, Hee Gyung Kang, Il Soo Ha, et al.
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