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Annals of Clinical and Laboratory Science|February 18, 2011
Multiplex ligation-dependent probe amplification assay for diagnosis of congenital adrenal hyperplasiaJa-Hyun Jang, Dong-Kyu Jin, Jong-Hwa Kim, et al.
Annals of Laboratory Medicine|January 10, 2013
The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigationHee Jae Huh, Ja Young Seo, Sung Yoon Cho, et al.
Annals of Laboratory Medicine|July 25, 2015
CYP21A2 mutation analysis in Korean patients with congenital adrenal hyperplasia using complementary methods: sequencing after long-range PCR and restriction fragment length polymorphism analysis with multiple ligation-dependent probe amplification assayGeehay Hong, Hyung Doo Park, Rihwa Choi, et al.
Annals of Clinical and Laboratory Science|July 26, 2013
Three patients with glycogen storage disease type II and the mutational spectrum of GAA in Korean patientsHyung-Doo Park, Dong Hwan Lee, Tae-Youn Choi, et al.
Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (GMS)|March 27, 2019
Assessment of 7 trace elements in serum of patients with nontuberculous mycobacterial lung diseaseJongwon Oh, Sun Hye Shin, Rihwa Choi, et al.
Annals of Laboratory Medicine|November 12, 2016
Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome SequencingRihwa Choi, Hyung Doo Park, Mina Yang, et al.
Annals of Laboratory Medicine|May 14, 2013
A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIBYoung-Eun Kim, Hyung-Doo Park, Mi-Ae Jang, et al.
BMC Medical Genetics|April 23, 2016
PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutationsRihwa Choi, Hyung-Doo Park, Ben Kang, et al.
Annals of Laboratory Medicine|July 25, 2015
Development and validation of liquid chromatography-tandem mass spectrometry method for quantification of plasma metanephrines for differential diagnosis of adrenal incidentalomaSae Mi Lee, Mi Na Lee, Hyeon Ju Oh, et al.
The Korean Journal of Laboratory Medicine|September 1, 2010
[Determination of urinary iodine concentration by inductively coupled plasma-mass spectrometry in thyroid cancer patients on low-iodine diet]Ji Hyun Lee, Ok Ja Ji, Min Jung Song, et al.
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