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Chest|January 10, 2021
Case of a 21-Year-Old Man With Hemoptysis, Recurrent Pneumothorax, and Cavitary Lung LesionsSang Yong Park, Ho Cheol Kim, Seongbong Wee, et al.
Molecular Genetics and Metabolism|February 7, 2012
Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitutionTadayasu Togawa, Takahiro Tsukimura, Takashi Kodama, et al.
Journal of Human Genetics|June 1, 2024
Clinical and molecular characteristics of Korean patients with Kabuki syndromeJi-Hee Yoon, Soojin Hwang, Hyunwoo Bae, 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.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|August 26, 2011
Genetic basis of Bartter syndrome in KoreaBeom Hee Lee, Hee Yeon Cho, HyunKyung Lee, 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.
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