Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.
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| Title: | Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset. |
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| Authors: | MacKay CI; Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia., Wong K; Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia., Demarest ST; Children's Hospital Colorado, Aurora, Colorado, USA.; Departments of Pediatrics and Neurology, University of Colorado at Denver, Aurora, Colorado, USA., Benke TA; Children's Hospital Colorado, Aurora, Colorado, USA.; Departments of Pediatrics, Pharmacology, Neurology and Otolaryngology, University of Colorado at Denver, Aurora, Colorado, USA., Downs J; Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia.; School of Physiotherapy and Exercise Science, Curtin University, Perth, Western Australia, Australia., Leonard H; Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia. |
| Source: | Clinical genetics [Clin Genet] 2021 Jan; Vol. 99 (1), pp. 157-165. Date of Electronic Publication: 2020 Oct 20. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: 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: 33047306 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22MacKay+CI%22">MacKay CI</searchLink>; Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Wong+K%22">Wong K</searchLink>; Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Demarest+ST%22">Demarest ST</searchLink>; Children's Hospital Colorado, Aurora, Colorado, USA.; Departments of Pediatrics and Neurology, University of Colorado at Denver, Aurora, Colorado, USA.<br /><searchLink fieldCode="AU" term="%22Benke+TA%22">Benke TA</searchLink>; Children's Hospital Colorado, Aurora, Colorado, USA.; Departments of Pediatrics, Pharmacology, Neurology and Otolaryngology, University of Colorado at Denver, Aurora, Colorado, USA.<br /><searchLink fieldCode="AU" term="%22Downs+J%22">Downs J</searchLink>; Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia.; School of Physiotherapy and Exercise Science, Curtin University, Perth, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Leonard+H%22">Leonard H</searchLink>; Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2021 Jan; Vol. 99 (1), pp. 157-165. <i>Date of Electronic Publication: </i>2020 Oct 20. – 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="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=33047306 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/cge.13862 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 157 Titles: – TitleFull: Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: MacKay CI – PersonEntity: Name: NameFull: Wong K – PersonEntity: Name: NameFull: Demarest ST – PersonEntity: Name: NameFull: Benke TA – PersonEntity: Name: NameFull: Downs J – PersonEntity: Name: NameFull: Leonard H IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: 2021 Jan Type: published Y: 2021 Identifiers: – Type: issn-electronic Value: 1399-0004 Numbering: – Type: volume Value: 99 – Type: issue Value: 1 Titles: – TitleFull: Clinical genetics Type: main |
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