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Resistance to thyroid hormone due to a novel mutation of thyroid hormone receptor beta gene
Jae Hee Lee, Eun Young Kim
Ann Pediatr Endocrinol Metab. 2014;19(4):229-231.   Published online December 31, 2014
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A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature
Chong Kun Cheon, Hoon Sang Lee, Su Yung Kim, Min Jung Kwak, Gu-Hwan Kim, Han-Wook Yoo
Ann Pediatr Endocrinol Metab. 2014;19(1):36-41.   Published online March 31, 2014
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A Novel Mutation of the Steroid 5-Alpha Reductase Type 2 (SRD5A2) Gene in a Korean Newborn with Ambiguous Genitalia.
Ran Hee Kim, Su Yung Kim, Han Wook Yoo, Gu Hwan Kim, Chong Kun Cheon
Ann Pediatr Endocrinol Metab. 2010;15(2):133-137.
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Hypogonadotropic Hypogonadism and Abnormal Olfactory Bulb Development in CHARGE Syndrome with CHD7 Mutation.
Sun Hyang Lee, Yong Wha Lee, Young Lim Shin
Ann Pediatr Endocrinol Metab. 2009;14(1):68-72.
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A Familial Case of Idiopathic Hypogonadotropic Hypogonadism Occurred in a Boy and His Sister.
Eun Jung Yoo, Kyoung Sim Kim, Yong Wook Kim, Han Wook Yoo, Eun Young Kim
Ann Pediatr Endocrinol Metab. 2006;11(2):199-204.
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Mutational Analysis of PTPN11 Gene in Noonan Syndrome.
Sung Yeon Ahn, Choong Ho Shin, Sei Won Yang
Ann Pediatr Endocrinol Metab. 2005;10(2):188-194.
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Plasma Ghrelin Levels and Its Relationship with Obesity in Obese Children.
Dae Sun Jo, Jae Un Lee, Sun Young Kim, Sun Jun Kim, Chang Won Kang, Pyoung Han Hwang, Dae Yeol Lee
Ann Pediatr Endocrinol Metab. 2004;9(2):179-185.
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Genetic Analysis in a Case of Transient Neonatal Diabetes Mellitus with Congenital Adrenal Hyperplasia.
Hye Jin Kwon, Jin A Park, Sang Lack Lee, Heung Sik Kim, Dong Seok Jeon, Dong Kyu Jin, Pyoung Han Hwang
Ann Pediatr Endocrinol Metab. 2002;7(1):116-121.
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Three Cases of Congenital Adrenal Hyperplasia Owing to Multiple Mutations of CYP21 Gene.
Jun Heo, Jae Hong Yu, Dong Ki Jeong
Ann Pediatr Endocrinol Metab. 2001;6(2):176-181.
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