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Novel Insights into Pontocerebellar Hypoplasia Type 3: Discovery of a New Disease-causing PCLO Variant and Development of a CRISPR-generated Cell Model : Novel Insights into Pontocerebellar Hypoplasia Type 3.

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Title: Novel Insights into Pontocerebellar Hypoplasia Type 3: Discovery of a New Disease-causing PCLO Variant and Development of a CRISPR-generated Cell Model : Novel Insights into Pontocerebellar Hypoplasia Type 3.
Authors: Baneshi M; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.; Department of Medical Biotechnology, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran., Mohammadi S; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran., Jafari Khamirani H; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.; Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran., Fallahi J; Department of Molecular Medicine, Shiraz University of Medical Sciences, Shiraz, Iran., Dara M; Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Tabei FS; Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran., Ranjbar M; Department of Medical Biotechnology, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran., Bagher Tabei SM; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.; Maternal-fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Source: Galen medical journal [Galen Med J] 2025 Aug 10; Vol. 14, pp. e3727. Date of Electronic Publication: 2025 Aug 10 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Salvia Medical Sciences Ltd. incorporation with SalviaPub Country of Publication: Iran NLM ID: 101625418 Publication Model: eCollection Cited Medium: Internet ISSN: 2322-2379 (Electronic) Linking ISSN: 23222379 NLM ISO Abbreviation: Galen Med J Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Novel Insights into Pontocerebellar Hypoplasia Type 3: Discovery of a New Disease-causing PCLO Variant and Development of a CRISPR-generated Cell Model : Novel Insights into Pontocerebellar Hypoplasia Type 3.
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  Data: <searchLink fieldCode="AU" term="%22Baneshi+M%22">Baneshi M</searchLink>; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.; Department of Medical Biotechnology, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran.<br /><searchLink fieldCode="AU" term="%22Mohammadi+S%22">Mohammadi S</searchLink>; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.<br /><searchLink fieldCode="AU" term="%22Jafari+Khamirani+H%22">Jafari Khamirani H</searchLink>; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.; Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.<br /><searchLink fieldCode="AU" term="%22Fallahi+J%22">Fallahi J</searchLink>; Department of Molecular Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.<br /><searchLink fieldCode="AU" term="%22Dara+M%22">Dara M</searchLink>; Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.<br /><searchLink fieldCode="AU" term="%22Tabei+FS%22">Tabei FS</searchLink>; Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.<br /><searchLink fieldCode="AU" term="%22Ranjbar+M%22">Ranjbar M</searchLink>; Department of Medical Biotechnology, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran.<br /><searchLink fieldCode="AU" term="%22Bagher+Tabei+SM%22">Bagher Tabei SM</searchLink>; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.; Maternal-fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
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  Data: <searchLink fieldCode="JN" term="%22101625418%22">Galen medical journal</searchLink> [Galen Med J] 2025 Aug 10; Vol. 14, pp. e3727. <i>Date of Electronic Publication: </i>2025 Aug 10 (<i>Print Publication: </i>2025).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Salvia+Medical+Sciences+Ltd%2E+incorporation+with+SalviaPub%22">Salvia Medical Sciences Ltd. incorporation with SalviaPub </searchLink><i>Country of Publication: </i>Iran <i>NLM ID: </i>101625418 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>2322-2379 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2223222379%22">23222379 </searchLink><i>NLM ISO Abbreviation: </i>Galen Med J <i>Subsets: </i>PubMed not MEDLINE
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              Text: 2025 Aug 10
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