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Hormone Research|April 30, 2005
Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenitaJin-Ho Choi, Young-Lim Shin, Gu-Hwan Kim, et al.Journal of Clinical Neurology (Seoul, Korea)|October 13, 2016
Genotype-Phenotype Correlation of SMN1 and NAIP Deletions in Korean Patients with Spinal Muscular AtrophyEun Ji Ahn, Mi Sun Yum, Eun Hee Kim, et al.Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [And] German Diabetes Association|October 17, 2024
Endocrine Complications in Hepatic Glycogen Storage Diseases: A Long-term PerspectiveJa Hye Kim, Yena Lee, Soojin Hwang, et al.Hormone Research in Paediatrics|April 22, 2015
Clinical and endocrine features of two Allan-Herndon-Dudley syndrome patients with monocarboxylate transporter 8 mutationsJa Hye Kim, Yoo-Mi Kim, Mi-Sun Yum, et al.Journal of Human Genetics|March 20, 2015
Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiencyJa Hye Kim, Yoo-Mi Kim, Beom Hee Lee, et al.The Korean Journal of Internal Medicine|October 26, 2018
Birt-Hogg-Dubé syndrome in Korean: clinicoradiologic features and long term follow-upJoo Hee Lee, Min Joo Jeon, Joon Seon Song, et al.Pediatric Gastroenterology, Hepatology & Nutrition|July 10, 2015
Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic HepatomegalyJung Ah Kim, Ja Hye Kim, Beom Hee Lee, et al.Korean Journal of Pediatrics|April 30, 2014
Lowe syndrome: a single center's experience in KoreaHyun-Kyung Kim, Ja Hye Kim, Yoo-Mi Kim, et al.Hormone Research in Paediatrics|September 24, 2014
High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glandsHye Young Jin, Sun-Hee Heo, Yoo-Mi Kim, et al.Metabolic Brain Disease|May 27, 2019
Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variantsJa Hyang Cho, Jin-Ho Choi, Sun Hee Heo, et al.Pageof 18