Showing results (41-50 of 173) with videos related to
Sort By:
Pageof 18
Medicine|April 6, 2018
Clinical characteristics and treatment outcomes in Camurati-Engelmann disease: A case seriesYoon-Myung Kim, Eungu Kang, Jin-Ho Choi, et al.Annals of Pediatric Endocrinology & Metabolism|October 26, 2016
Long-term clinical outcome and the identification of homozygous <i>CYP27B1</i> gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1AJa Hyang Cho, Eungu Kang, Gu-Hwan Kim, et al.Annals of Pediatric Endocrinology & Metabolism|March 10, 2024
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 geneJi-Hee Yoon, Soojin Hwang, Ja Hye Kim, et al.Journal of Human Genetics|September 13, 2020
Aberrant expression of PAX6 gene associated with classical aniridia: identification and functional characterization of novel noncoding mutationsJunwon Lee, Yoonjong Suh, Han Jeong, et al.Molecular Medicine (Cambridge, Mass.)|May 4, 2017
Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal HyperplasiaEungu Kang, Yoon-Myung Kim, Gu-Hwan Kim, et al.Human Mutation|October 17, 2006
Identification of novel mutations in the human ornithine transcarbamylase (OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitroGu-Hwan Kim, Jin-Ho Choi, Hyung-Haon Lee, et al.Pediatric Neurology|January 8, 2015
Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hairJin-Ho Choi, Moon-Yeon Oh, Mi-Sun Yum, et al.Gene|June 18, 2013
A case with combined rare inborn metabolic disorders: congenital adrenal hyperplasia and ornithine transcarbamylase deficiencyYoo-Mi Kim, Beom Hee Lee, Jin-Ho Choi, et al.Journal of Human Genetics|November 11, 2016
Biochemical and molecular characteristics of citrin deficiency in Korean childrenSeak Hee Oh, Beom Hee Lee, Gu-Hwan Kim, et al.Proteomics. Clinical Applications|June 18, 2010
Proteomic analysis of sera of asymptomatic, early-stage patients with Wilson's diseaseJung-Young Park, Joo Hee Mun, Beom Hee Lee, et al.Pageof 18