Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure.
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| Title: | Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure. |
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| Authors: | Al Alawi I; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.; National Genetic Center, Ministry of Health, Muscat, Oman., Powell L; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom., Rice SJ; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom., Al Riyami MS; Pediatric Nephrology Unit, Department of Child Health, Royal Hospital, Ministry of Health, Muscat, Oman., Al-Riyami M; Department of Pathology, College of Medicine, Sultan Qaboos University, Muscat, Oman., Al Salmi I; Renal Medicine Department, Royal Hospital, Ministry of Health, Muscat, Oman.; Internal Medicine, Oman Medical Specialty Board, Muscat, Oman., Sayer JA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.; Renal Services, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Newcastle Biomedical Research Centre, NIHR, Newcastle upon Tyne, United Kingdom. |
| Source: | Frontiers in genetics [Front Genet] 2021 Nov 30; Vol. 12, pp. 791495. Date of Electronic Publication: 2021 Nov 30 (Print Publication: 2021). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 34917135 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Al+Alawi+I%22">Al Alawi I</searchLink>; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.; National Genetic Center, Ministry of Health, Muscat, Oman.<br /><searchLink fieldCode="AU" term="%22Powell+L%22">Powell L</searchLink>; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Rice+SJ%22">Rice SJ</searchLink>; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Al+Riyami+MS%22">Al Riyami MS</searchLink>; Pediatric Nephrology Unit, Department of Child Health, Royal Hospital, Ministry of Health, Muscat, Oman.<br /><searchLink fieldCode="AU" term="%22Al-Riyami+M%22">Al-Riyami M</searchLink>; Department of Pathology, College of Medicine, Sultan Qaboos University, Muscat, Oman.<br /><searchLink fieldCode="AU" term="%22Al+Salmi+I%22">Al Salmi I</searchLink>; Renal Medicine Department, Royal Hospital, Ministry of Health, Muscat, Oman.; Internal Medicine, Oman Medical Specialty Board, Muscat, Oman.<br /><searchLink fieldCode="AU" term="%22Sayer+JA%22">Sayer JA</searchLink>; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.; Renal Services, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Newcastle Biomedical Research Centre, NIHR, Newcastle upon Tyne, United Kingdom. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101560621%22">Frontiers in genetics</searchLink> [Front Genet] 2021 Nov 30; Vol. 12, pp. 791495. <i>Date of Electronic Publication: </i>2021 Nov 30 (<i>Print Publication: </i>2021). – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101560621 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-8021 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216648021%22">16648021 </searchLink><i>NLM ISO Abbreviation: </i>Front Genet <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=34917135 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3389/fgene.2021.791495 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 791495 Titles: – TitleFull: Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Al Alawi I – PersonEntity: Name: NameFull: Powell L – PersonEntity: Name: NameFull: Rice SJ – PersonEntity: Name: NameFull: Al Riyami MS – PersonEntity: Name: NameFull: Al-Riyami M – PersonEntity: Name: NameFull: Al Salmi I – PersonEntity: Name: NameFull: Sayer JA IsPartOfRelationships: – BibEntity: Dates: – D: 30 M: 11 Text: 2021 Nov 30 Type: published Y: 2021 Identifiers: – Type: issn-print Value: 1664-8021 Numbering: – Type: volume Value: 12 Titles: – TitleFull: Frontiers in genetics Type: main |
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