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Annals of Laboratory Medicine|June 29, 2022
Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann SyndromeHwa Young Kim, Choong Ho Shin, Young Ah Lee, et al.European Journal of Pediatrics|November 9, 2010
Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasiaHye Young Jin, Jin-Ho Choi, Beom Hee Lee, et al.Hormone Research in Paediatrics|November 30, 2018
Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 GenesJin-Ho Choi, Ja Hyang Cho, Ja Hye Kim, et al.Genetic Testing|July 26, 2008
Estimation of Wilson's disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation systemGu-Hwan Kim, Jeong Yoon Yang, Jung-Young Park, et al.Journal of Korean Medical Science|August 31, 2007
Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2Min Sun Kim, Sun Young Kim, Gu Hwan Kim, et al.International Journal of Molecular Medicine|December 5, 2006
Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiencyJin-Ho Choi, Hye-Ran Yoon, Gu-Hwan Kim, et al.Journal of Korean Medical Science|June 29, 2007
A newly identified insertion mutation in the thyroid hormone receptor-beta gene in a Korean family with generalized thyroid hormone resistanceJi Hye Kim, Tae Sun Park, Hong Sun Baek, et al.The Journal of Pediatrics|July 26, 2011
Spectrum of mutations in Noonan syndrome and their correlation with phenotypesBeom Hee Lee, Jae-Min Kim, Hye Young Jin, et al.Korean Journal of Pediatrics|September 11, 2013
Chronic intermittent form of isovaleric aciduria in a 2-year-old boyJin Min Cho, Beom Hee Lee, Gu-Hwan Kim, et al.Orphanet Journal of Rare Diseases|February 13, 2020
Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type IaYoo-Mi Kim, Jin-Ho Choi, Beom-Hee Lee, et al.Pageof 18