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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.BMC Ophthalmology|November 17, 2022
Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosaNelson Chen, Hane Lee, Angela H 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|October 29, 2025
Expanding genetic and clinical spectra of β-tubulinopathies: A Korean studySoojin Hwang, Hyunwoo Bae, Dohyung Kim, et al.Cardiovascular Diagnosis and Therapy|January 9, 2026
Identification of recurrent MYH7 variant hypertrophic cardiomyopathy patients in Korea: a case seriesSeung Woo Ryu, Seokhui Jang, Jang-Won Son, 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.Scientific Reports|November 12, 2020
Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patientsYou Na Kim, Joon Seon Song, Seak Hee Oh, 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.Clinical Genetics|March 17, 2026
Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International CollaborationAlexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, et al.Pageof 11