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Three siblings with giant axonal neuropathy caused by a novel variant in GAN gene: the first report from Egypt by Abdelrahim A. Sadek, Mohammed A. Aladawy, Tarek M. M. Mansour, Ali Farag El Hadad, Abd Elaziz Shokry, Rin Khang, Seung Woo Ryu, Elsayed Abdelkreem
Published 2025-07-01Get full text
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P235: Exploring precision medicine through genome sequencing for patients suspected of rare genetic disorders by Soojin Hwang, Go Hun Seo, In Hee Choi, Seung-Woo Ryue, Jiyoung Oh, Yoo-Mi Kim, Baik-Lin Eun, Jung Hye Byeon, Eungu Kang, Myungshin Kim, Gu-Hwan Kim, Rin Khang, Jihye Kim, Kyoung Bo Kim, Jun Hong Park, Mi-Hyun Park, Beom Hee Lee, Hyun-Young Park
Published 2025-01-01Get full text
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Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study by Soojin Hwang, Go Hun Seo, In Hee Choi, Seung‐Woo Ryue, Ji Young Oh, Yoo‐Mi Kim, Baik‐Lin Eun, Jung Hye Byeon, Eugu Kang, Myungshin Kim, Hoon Seok Kim, Soyoung Lee, Han Wool Kim, Dohyung Kim, Rin Khang, Jihye Kim, Dongseok Moon, Seokhui Jang, Yongjun Song, Gu‐Hwan Kim, Kyoung Bo Kim, Jun Hong Park, Seo Yeon Yang, Yoo Kyoung Choi, Su Min Ji, Oc‐Hee Kim, Mi‐Hyun Park, Hyun‐Young Park, Beom Hee Lee
Published 2025-07-01Get full text
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