Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy.
Saved in:
| Title: | Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy. |
|---|---|
| Authors: | Ostrander BEP; 1Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT USA., Butterfield RJ; 1Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT USA., Pedersen BS; 2Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT USA., Farrell AJ; 2Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT USA., Layer RM; 2Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT USA., Ward A; 2Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT USA., Miller C; 2Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT USA., DiSera T; 2Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT USA., Filloux FM; 1Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT USA., Candee MS; 1Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT USA., Newcomb T; 2Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT USA., Bonkowsky JL; 1Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT USA., Marth GT; 2Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT USA., Quinlan AR; 1Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT USA.; 2Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT USA.; 3Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, UT USA. |
| Source: | NPJ genomic medicine [NPJ Genom Med] 2018 Aug 13; Vol. 3, pp. 22. Date of Electronic Publication: 2018 Aug 13 (Print Publication: 2018). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: eCollection Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
|
Full text is not displayed to guests.
Login for full access.
|
|
| FullText | Links: – Type: pdflink Text: Availability: 1 |
|---|---|
| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 30109124 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Ostrander+BEP%22">Ostrander BEP</searchLink>; 1Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT USA.<br /><searchLink fieldCode="AU" term="%22Butterfield+RJ%22">Butterfield RJ</searchLink>; 1Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT USA.<br /><searchLink fieldCode="AU" term="%22Pedersen+BS%22">Pedersen BS</searchLink>; 2Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT USA.<br /><searchLink fieldCode="AU" term="%22Farrell+AJ%22">Farrell AJ</searchLink>; 2Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT USA.<br /><searchLink fieldCode="AU" term="%22Layer+RM%22">Layer RM</searchLink>; 2Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT USA.<br /><searchLink fieldCode="AU" term="%22Ward+A%22">Ward A</searchLink>; 2Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT USA.<br /><searchLink fieldCode="AU" term="%22Miller+C%22">Miller C</searchLink>; 2Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT USA.<br /><searchLink fieldCode="AU" term="%22DiSera+T%22">DiSera T</searchLink>; 2Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT USA.<br /><searchLink fieldCode="AU" term="%22Filloux+FM%22">Filloux FM</searchLink>; 1Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT USA.<br /><searchLink fieldCode="AU" term="%22Candee+MS%22">Candee MS</searchLink>; 1Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT USA.<br /><searchLink fieldCode="AU" term="%22Newcomb+T%22">Newcomb T</searchLink>; 2Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT USA.<br /><searchLink fieldCode="AU" term="%22Bonkowsky+JL%22">Bonkowsky JL</searchLink>; 1Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT USA.<br /><searchLink fieldCode="AU" term="%22Marth+GT%22">Marth GT</searchLink>; 2Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT USA.<br /><searchLink fieldCode="AU" term="%22Quinlan+AR%22">Quinlan AR</searchLink>; 1Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT USA.; 2Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT USA.; 3Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, UT USA. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101685193%22">NPJ genomic medicine</searchLink> [NPJ Genom Med] 2018 Aug 13; Vol. 3, pp. 22. <i>Date of Electronic Publication: </i>2018 Aug 13 (<i>Print Publication: </i>2018). – 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="%22Springer+Nature+in+partnership+with+the+Center+of+Excellence+in+Genomic+Medicine+Research+at+King+Abdulaziz+University%22">Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101685193 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>2056-7944 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220567944%22">20567944 </searchLink><i>NLM ISO Abbreviation: </i>NPJ Genom Med <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=30109124 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/s41525-018-0061-8 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 22 Titles: – TitleFull: Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Ostrander BEP – PersonEntity: Name: NameFull: Butterfield RJ – PersonEntity: Name: NameFull: Pedersen BS – PersonEntity: Name: NameFull: Farrell AJ – PersonEntity: Name: NameFull: Layer RM – PersonEntity: Name: NameFull: Ward A – PersonEntity: Name: NameFull: Miller C – PersonEntity: Name: NameFull: DiSera T – PersonEntity: Name: NameFull: Filloux FM – PersonEntity: Name: NameFull: Candee MS – PersonEntity: Name: NameFull: Newcomb T – PersonEntity: Name: NameFull: Bonkowsky JL – PersonEntity: Name: NameFull: Marth GT – PersonEntity: Name: NameFull: Quinlan AR IsPartOfRelationships: – BibEntity: Dates: – D: 13 M: 08 Text: 2018 Aug 13 Type: published Y: 2018 Identifiers: – Type: issn-electronic Value: 2056-7944 Numbering: – Type: volume Value: 3 Titles: – TitleFull: NPJ genomic medicine Type: main |
| ResultId | 1 |