Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.
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| Title: | Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders. |
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| Authors: | Yap CS; Research Laboratory, KK Women's & Children's Hospital, Singapore., Jamuar SS; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore., Lai AHM; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore., Tan ES; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore., Ng I; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore., Ting TW; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore., Tan EC; Research Laboratory, KK Women's & Children's Hospital, Singapore; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore. Electronic address: tan.ene.choo@kkh.com.sg. |
| Source: | Gene [Gene] 2020 Mar 20; Vol. 731, pp. 144360. Date of Electronic Publication: 2020 Jan 11. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 31935506 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Yap+CS%22">Yap CS</searchLink>; Research Laboratory, KK Women's & Children's Hospital, Singapore.<br /><searchLink fieldCode="AU" term="%22Jamuar+SS%22">Jamuar SS</searchLink>; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore.<br /><searchLink fieldCode="AU" term="%22Lai+AHM%22">Lai AHM</searchLink>; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore.<br /><searchLink fieldCode="AU" term="%22Tan+ES%22">Tan ES</searchLink>; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore.<br /><searchLink fieldCode="AU" term="%22Ng+I%22">Ng I</searchLink>; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore.<br /><searchLink fieldCode="AU" term="%22Ting+TW%22">Ting TW</searchLink>; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore.<br /><searchLink fieldCode="AU" term="%22Tan+EC%22">Tan EC</searchLink>; Research Laboratory, KK Women's & Children's Hospital, Singapore; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore. Electronic address: tan.ene.choo@kkh.com.sg. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%227706761%22">Gene</searchLink> [Gene] 2020 Mar 20; Vol. 731, pp. 144360. <i>Date of Electronic Publication: </i>2020 Jan 11. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%2FNorth-Holland%22">Elsevier/North-Holland </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>7706761 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1879-0038 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203781119%22">03781119 </searchLink><i>NLM ISO Abbreviation: </i>Gene <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=31935506 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.gene.2020.144360 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 144360 Titles: – TitleFull: Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Yap CS – PersonEntity: Name: NameFull: Jamuar SS – PersonEntity: Name: NameFull: Lai AHM – PersonEntity: Name: NameFull: Tan ES – PersonEntity: Name: NameFull: Ng I – PersonEntity: Name: NameFull: Ting TW – PersonEntity: Name: NameFull: Tan EC IsPartOfRelationships: – BibEntity: Dates: – D: 20 M: 03 Text: 2020 Mar 20 Type: published Y: 2020 Identifiers: – Type: issn-electronic Value: 1879-0038 Numbering: – Type: volume Value: 731 Titles: – TitleFull: Gene Type: main |
| ResultId | 1 |
