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Journal of Clinical Neurology (Seoul, Korea)|January 13, 2016
Epilepsy and Other Neuropsychiatric Manifestations in Children and Adolescents with 22q11.2 Deletion SyndromeEun Hee Kim, Mi Sun Yum, Beom Hee Lee, et al.Ebiomedicine|January 26, 2020
Enhanced thrombospondin-1 causes dysfunction of vascular endothelial cells derived from Fabry disease-induced pluripotent stem cellsHyo-Sang Do, Sang-Wook Park, Ilkyun Im, et al.Metabolism: Clinical and Experimental|June 3, 2011
Functional effects of DAX-1 mutations identified in patients with X-linked adrenal hypoplasia congenitaJin-Ho Choi, Jung-Young Park, Gu-Hwan Kim, et al.Pediatric Gastroenterology, Hepatology & Nutrition|October 17, 2015
Diagnostic Value of Ceruloplasmin in the Diagnosis of Pediatric Wilson's DiseaseJung Ah Kim, Hyun Jin Kim, Jin Min Cho, et al.Journal of Clinical Neurology (Seoul, Korea)|April 14, 2016
Erratum to: Epilepsy and Other Neuropsychiatric Manifestations in Children and Adolescents with 22q11.2 Deletion SyndromeEun Hee Kim, Mi Sun Yum, Beom Hee Lee, et al.American Journal of Hematology|April 2, 2024
A 10-year follow-up of high-dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher diseaseSoojin Hwang, Hyunwoo Bae, Ji-Hee Yoon, et al.Medicine|February 4, 2022
Clinical and genetic features of four patients with Pearson syndrome: An observational studyJi Soo Son, Go Hun Seo, Yoon-Myung Kim, et al.Journal of Clinical Laboratory Analysis|June 18, 2026
Resolving a Complex Neonatal Phenotype by Rapid Trio Whole-Genome Sequencing: A De Novo 11q14.3-q22.3 Deletion and a Splicing-Altering Synonymous ANK1 VariantHyun-Woo Lee, Ja-Hyun Jang, Beom Hee Lee, et al.Nephrology (Carlton, Vic.)|November 21, 2008
Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjectsJoo Hoon Lee, Hyun Jin Choi, Beom Hee Lee, et al.The Journal of Clinical Endocrinology and Metabolism|October 22, 2010
Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to terminal 15q26.2->qter deletion in patients with intrauterine growth retardation and postnatal catch-up growth failureJin-Ho Choi, Minji Kang, Gu-Hwan Kim, et al.Pageof 20