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Exploring the Impact of RNU4-2 Defects on Neurodevelopmental Disorders in a Korean Population.

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Title: Exploring the Impact of RNU4-2 Defects on Neurodevelopmental Disorders in a Korean Population.
Authors: Hong J; Department of Biomedical Sciences, Korea University College of Medicine, Seoul, Korea., Lee S; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea., Kim SY; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea., Kim T; Department of Biomedical Sciences, Korea University College of Medicine, Seoul, Korea., Shin WH; Department of Biomedical Informatics, Korea University College of Medicine, Seoul, Korea., Jang S; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea., Park JH; Department of Biological Science, Ajou University, Suwon, Korea., Jang D; Research Institute of Basic Sciences, Ajou University, Suwon, Korea., Park G; Department of Applied BioTechnology, Ajou University, Suwon, Korea., Cha JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea., Cho JS; Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Korea., Cho A; Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Korea., Kim H; Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Korea., Woo H; Department of Pediatrics, College of Medicine, Chungbuk National University, Cheongju, Korea., Kim JS; Department of Pediatrics, College of Medicine, Chungbuk National University, Cheongju, Korea., Lim BC; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea., Lee JE; Department of Pediatrics, Inha University College of Medicine, Inha University Hospital, Incheon, Korea., Kim M; Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea., Cheon CK; Department of Pediatrics, Pusan National University Children's Hospital, Pusan National College of Medicine, Yangsan, Korea., Choi J; Department of Biomedical Sciences, Korea University College of Medicine, Seoul, Korea., Chae JH; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea.
Source: Clinical genetics [Clin Genet] 2026 Jul; Vol. 110 (1), pp. 90-95. Date of Electronic Publication: 2026 Feb 23.
Publication Type: Journal Article
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Hong+J%22">Hong J</searchLink>; Department of Biomedical Sciences, Korea University College of Medicine, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Lee+S%22">Lee S</searchLink>; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Kim+SY%22">Kim SY</searchLink>; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Kim+T%22">Kim T</searchLink>; Department of Biomedical Sciences, Korea University College of Medicine, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Shin+WH%22">Shin WH</searchLink>; Department of Biomedical Informatics, Korea University College of Medicine, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Jang+S%22">Jang S</searchLink>; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Park+JH%22">Park JH</searchLink>; Department of Biological Science, Ajou University, Suwon, Korea.<br /><searchLink fieldCode="AU" term="%22Jang+D%22">Jang D</searchLink>; Research Institute of Basic Sciences, Ajou University, Suwon, Korea.<br /><searchLink fieldCode="AU" term="%22Park+G%22">Park G</searchLink>; Department of Applied BioTechnology, Ajou University, Suwon, Korea.<br /><searchLink fieldCode="AU" term="%22Cha+JH%22">Cha JH</searchLink>; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Cho+JS%22">Cho JS</searchLink>; Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Korea.<br /><searchLink fieldCode="AU" term="%22Cho+A%22">Cho A</searchLink>; Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Korea.<br /><searchLink fieldCode="AU" term="%22Kim+H%22">Kim H</searchLink>; Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Korea.<br /><searchLink fieldCode="AU" term="%22Woo+H%22">Woo H</searchLink>; Department of Pediatrics, College of Medicine, Chungbuk National University, Cheongju, Korea.<br /><searchLink fieldCode="AU" term="%22Kim+JS%22">Kim JS</searchLink>; Department of Pediatrics, College of Medicine, Chungbuk National University, Cheongju, Korea.<br /><searchLink fieldCode="AU" term="%22Lim+BC%22">Lim BC</searchLink>; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Lee+JE%22">Lee JE</searchLink>; Department of Pediatrics, Inha University College of Medicine, Inha University Hospital, Incheon, Korea.<br /><searchLink fieldCode="AU" term="%22Kim+M%22">Kim M</searchLink>; Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Cheon+CK%22">Cheon CK</searchLink>; Department of Pediatrics, Pusan National University Children's Hospital, Pusan National College of Medicine, Yangsan, Korea.<br /><searchLink fieldCode="AU" term="%22Choi+J%22">Choi J</searchLink>; Department of Biomedical Sciences, Korea University College of Medicine, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Chae+JH%22">Chae JH</searchLink>; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2026 Jul; Vol. 110 (1), pp. 90-95. <i>Date of Electronic Publication: </i>2026 Feb 23.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE
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              Text: 2026 Jul
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