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Journal of Human Genetics|May 19, 2018
Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in KoreaDahye Kim, Jung Min Ko, Yoon-Myung Kim, et al.Brain & Development|March 2, 2020
Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndromeHyunji Ahn, Go Hun Seo, Changwon Keum, et al.Annals of Pediatric Endocrinology & Metabolism|June 7, 2014
Turner syndrome with primary hyperparathyroidismJungmee Park, Yoo-Mi Kim, Jin-Ho Choi, 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.BMC Medical Genomics|September 5, 2024
Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathyOc-Hee Kim, Jihyun Kim, Youngjun Kim, et al.Journal of Clinical Neurology (Seoul, Korea)|January 25, 2013
Two Cases of X-Linked Myotubular Myopathy with Novel MTM1 MutationsEun Hye Lee, Mi-Sun Yum, Seong Jong Park, 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.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.Pageof 20