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A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.

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Title: A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.
Authors: Kiraz A; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey. aslihankiraz@erciyes.edu.tr., Erdogan M; Department of Medical Genetics, Kayseri City Education and Research Hospital, Kayseri, Turkey., Balta B; Department of Medical Genetics, Kayseri City Education and Research Hospital, Kayseri, Turkey., Gumus H; Department of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Mutlu MB; Detagen Genetic Diseases Evaluation Center, Kayseri, Turkey., Mammadova N; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Ozcelik F; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Sahin IO; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Guven AS; Department of Pediatric Neurology, Faculty of Medicine, Necmettin Erbakan University, Konya, Turkey., Kumandas S; Department of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Savranlar A; Department of Radiology, Kayseri City Education and Research Hospital, Kayseri, Turkey., Karaman F; Department of Radiology, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Per H; Department of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Dundar M; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Source: Neurogenetics [Neurogenetics] 2025 May 31; Vol. 26 (1), pp. 47. Date of Electronic Publication: 2025 May 31.
Publication Type: Journal Article
Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Kiraz+A%22">Kiraz A</searchLink>; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey. aslihankiraz@erciyes.edu.tr.<br /><searchLink fieldCode="AU" term="%22Erdogan+M%22">Erdogan M</searchLink>; Department of Medical Genetics, Kayseri City Education and Research Hospital, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Balta+B%22">Balta B</searchLink>; Department of Medical Genetics, Kayseri City Education and Research Hospital, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Gumus+H%22">Gumus H</searchLink>; Department of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Mutlu+MB%22">Mutlu MB</searchLink>; Detagen Genetic Diseases Evaluation Center, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Mammadova+N%22">Mammadova N</searchLink>; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Ozcelik+F%22">Ozcelik F</searchLink>; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Sahin+IO%22">Sahin IO</searchLink>; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Guven+AS%22">Guven AS</searchLink>; Department of Pediatric Neurology, Faculty of Medicine, Necmettin Erbakan University, Konya, Turkey.<br /><searchLink fieldCode="AU" term="%22Kumandas+S%22">Kumandas S</searchLink>; Department of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Savranlar+A%22">Savranlar A</searchLink>; Department of Radiology, Kayseri City Education and Research Hospital, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Karaman+F%22">Karaman F</searchLink>; Department of Radiology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Per+H%22">Per H</searchLink>; Department of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Dundar+M%22">Dundar M</searchLink>; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
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  Data: <searchLink fieldCode="JN" term="%229709714%22">Neurogenetics</searchLink> [Neurogenetics] 2025 May 31; Vol. 26 (1), pp. 47. <i>Date of Electronic Publication: </i>2025 May 31.
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