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Journal of Human Genetics|January 22, 2016
SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestationJung Min Ko, Soyoon Jung, Jieun Seo, et al.Pediatric Nephrology (Berlin, Germany)|June 21, 2020
Rasburicase improves the outcome of acute kidney injury from typical hemolytic uremic syndromeMyung Hyun Cho, Yo Han Ahn, Seon Hee Lim, et al.Human Mutation|February 11, 2012
KMD: Korean Mutation Database for genes related to diseasesMi-Hyun Park, Soo Kyung Koo, Jin-Sung Lee, et al.Journal of Clinical Medicine|July 26, 2020
Genotype and Phenotype Analyses in Pediatric Patients with <i>HNF1B</i> MutationsSeon Hee Lim, Ji Hyun Kim, Kyoung Hee Han, et al.Clinical & Experimental Ophthalmology|November 18, 2014
Atypical retinopathy in patients with nephronophthisis type 1: an uncommon ophthalmological findingHee Gyung Kang, Yo Han Ahn, Jeong Hun Kim, et al.Ultrastructural Pathology|March 18, 2016
De novo C3 glomerulonephritis in a renal allograftJi Hae Nahm, Seung Hwan Song, Yu Seun Kim, et al.Korean Journal of Pediatrics|April 30, 2014
Outcomes of chronic dialysis in Korean children with respect to survival rates and causes of deathHye Jin Chang, Kyoung Hee Han, Min Hyun Cho, et al.Pediatric Nephrology (Berlin, Germany)|December 17, 2010
A case of systemic amyloidosis associated with cyclic neutropeniaHyunKyung Lee, Kyoung Hee Han, Yun Hye Jung, et al.Annals of Neurology|April 21, 2019
Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesisHyowon Hong, Kwangsic Joo, Sang Min Park, et al.Plos One|December 24, 2011
Clinical and functional characterization of URAT1 variantsVelibor Tasic, Ann Marie Hynes, Kenichiro Kitamura, et al.Pageof 20