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Medicine|May 9, 2020
Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutationsJiwon Jung, Go Hun Seo, Yoo-Mi Kim, et al.Journal of Medical Genetics|April 6, 2018
Biochemical and molecular characterisation of neurological Wilson diseaseGo Hun Seo, Yoon-Myung Kim, Seak Hee Oh, et al.Journal of Human Genetics|June 28, 2013
Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndromeBeom Hee Lee, Gu-Hwan Kim, Tae Jeong Oh, et al.Journal of Human Genetics|October 29, 2025
Expanding genetic and clinical spectra of β-tubulinopathies: A Korean studySoojin Hwang, Hyunwoo Bae, Dohyung Kim, et al.Journal of Human Genetics|November 29, 2019
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation typesEungu Kang, Yoon-Myung Kim, Go Hun Seo, et al.Molecular Genetics & Genomic Medicine|April 6, 2024
Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literatureJun Hee Cho, Soojin Hwang, Yoon Hae Kwak, et al.Journal of Human Genetics|February 25, 2025
Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndromeDohyung Kim, Ji-Hee Yoon, Hyunwoo Bae, et al.Gut and Liver|May 19, 2010
Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 MutationHye Ryun Ban, Kyung Mo Kim, Joo Young Jang, et al.Journal of Medical Genetics|August 25, 2017
Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapySun Hee Heo, Eungu Kang, Yoon-Myung Kim, et al.European Journal of Endocrinology|August 18, 2011
High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasiaJae-Min Kim, Jin-Ho Choi, Jung Hyun Lee, et al.Pageof 18