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. |
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| 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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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 36344539 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families. – Name: Author Label: Authors Group: Au 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. – Name: TitleSource Label: Source Group: Src 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. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101563288 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2045-2322 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220452322%22">20452322 </searchLink><i>NLM ISO Abbreviation: </i>Sci Rep <i>Subsets: </i>MEDLINE |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/s41598-022-22036-z Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 18862 Titles: – TitleFull: The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Al-Kasbi G – PersonEntity: Name: NameFull: Al-Murshedi F – PersonEntity: Name: NameFull: Al-Kindi A – PersonEntity: Name: NameFull: Al-Hashimi N – PersonEntity: Name: NameFull: Al-Thihli K – PersonEntity: Name: NameFull: Al-Saegh A – PersonEntity: Name: NameFull: Al-Futaisi A – PersonEntity: Name: NameFull: Al-Mamari W – PersonEntity: Name: NameFull: Al-Asmi A – PersonEntity: Name: NameFull: Bruwer Z – PersonEntity: Name: NameFull: Al-Kharusi K – PersonEntity: Name: NameFull: Al-Rashdi S – PersonEntity: Name: NameFull: Zadjali F – PersonEntity: Name: NameFull: Al-Yahyaee S – PersonEntity: Name: NameFull: Al-Maawali A IsPartOfRelationships: – BibEntity: Dates: – D: 07 M: 11 Text: 2022 Nov 07 Type: published Y: 2022 Identifiers: – Type: issn-electronic Value: 2045-2322 Numbering: – Type: volume Value: 12 – Type: issue Value: 1 Titles: – TitleFull: Scientific reports Type: main |
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