The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.

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Title: The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
Authors: Al-Kasbi G; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman., Al-Murshedi F; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman., Al-Kindi A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman., Al-Hashimi N; Department of Pediatrics, Royal Hospital, Ministry of Health, Muscat, Oman., Al-Thihli K; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman., Al-Saegh A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman., Al-Futaisi A; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman., Al-Mamari W; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman., Al-Asmi A; Department of Medicine, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman., Bruwer Z; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman., Al-Kharusi K; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman., Al-Rashdi S; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman., Zadjali F; Department of Biochemistry, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman., Al-Yahyaee S; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman., Al-Maawali A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman. almaawali@squ.edu.om.; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman. almaawali@squ.edu.om.
Source: Scientific reports [Sci Rep] 2022 Nov 07; Vol. 12 (1), pp. 18862. Date of Electronic Publication: 2022 Nov 07.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
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  Data: <searchLink fieldCode="AU" term="%22Al-Kasbi+G%22">Al-Kasbi G</searchLink>; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.<br /><searchLink fieldCode="AU" term="%22Al-Murshedi+F%22">Al-Murshedi F</searchLink>; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.<br /><searchLink fieldCode="AU" term="%22Al-Kindi+A%22">Al-Kindi A</searchLink>; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.<br /><searchLink fieldCode="AU" term="%22Al-Hashimi+N%22">Al-Hashimi N</searchLink>; Department of Pediatrics, Royal Hospital, Ministry of Health, Muscat, Oman.<br /><searchLink fieldCode="AU" term="%22Al-Thihli+K%22">Al-Thihli K</searchLink>; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.<br /><searchLink fieldCode="AU" term="%22Al-Saegh+A%22">Al-Saegh A</searchLink>; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.<br /><searchLink fieldCode="AU" term="%22Al-Futaisi+A%22">Al-Futaisi A</searchLink>; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.<br /><searchLink fieldCode="AU" term="%22Al-Mamari+W%22">Al-Mamari W</searchLink>; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.<br /><searchLink fieldCode="AU" term="%22Al-Asmi+A%22">Al-Asmi A</searchLink>; Department of Medicine, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.<br /><searchLink fieldCode="AU" term="%22Bruwer+Z%22">Bruwer Z</searchLink>; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.<br /><searchLink fieldCode="AU" term="%22Al-Kharusi+K%22">Al-Kharusi K</searchLink>; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.<br /><searchLink fieldCode="AU" term="%22Al-Rashdi+S%22">Al-Rashdi S</searchLink>; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.<br /><searchLink fieldCode="AU" term="%22Zadjali+F%22">Zadjali F</searchLink>; Department of Biochemistry, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.<br /><searchLink fieldCode="AU" term="%22Al-Yahyaee+S%22">Al-Yahyaee S</searchLink>; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.<br /><searchLink fieldCode="AU" term="%22Al-Maawali+A%22">Al-Maawali A</searchLink>; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman. almaawali@squ.edu.om.; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman. almaawali@squ.edu.om.
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  Data: <searchLink fieldCode="JN" term="%22101563288%22">Scientific reports</searchLink> [Sci Rep] 2022 Nov 07; Vol. 12 (1), pp. 18862. <i>Date of Electronic Publication: </i>2022 Nov 07.
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