Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.
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| Title: | Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. |
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| Authors: | Walz K; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10 Ave, BRB 610, M-860, Miami, FL, 33136, USA, kwalz@med.miami.edu., Cohen D, Neilsen PM, Foster J 2nd, Brancati F, Demir K, Fisher R, Moffat M, Verbeek NE, Bjørgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, Zhang L, Diaz-Horta O, Young JI, Callen DF, Tekin M |
| Source: | Human genetics [Hum Genet] 2015 Feb; Vol. 134 (2), pp. 181-90. Date of Electronic Publication: 2014 Nov 21. |
| Publication Type: | Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 25413698 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Walz+K%22">Walz K</searchLink>; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10 Ave, BRB 610, M-860, Miami, FL, 33136, USA, kwalz@med.miami.edu.<br /><searchLink fieldCode="AU" term="%22Cohen+D%22">Cohen D</searchLink><br /><searchLink fieldCode="AU" term="%22Neilsen+PM%22">Neilsen PM</searchLink><br /><searchLink fieldCode="AU" term="%22Foster+J+2nd%22">Foster J 2nd</searchLink><br /><searchLink fieldCode="AU" term="%22Brancati+F%22">Brancati F</searchLink><br /><searchLink fieldCode="AU" term="%22Demir+K%22">Demir K</searchLink><br /><searchLink fieldCode="AU" term="%22Fisher+R%22">Fisher R</searchLink><br /><searchLink fieldCode="AU" term="%22Moffat+M%22">Moffat M</searchLink><br /><searchLink fieldCode="AU" term="%22Verbeek+NE%22">Verbeek NE</searchLink><br /><searchLink fieldCode="AU" term="%22Bjørgo+K%22">Bjørgo K</searchLink><br /><searchLink fieldCode="AU" term="%22Lo+Castro+A%22">Lo Castro A</searchLink><br /><searchLink fieldCode="AU" term="%22Curatolo+P%22">Curatolo P</searchLink><br /><searchLink fieldCode="AU" term="%22Novelli+G%22">Novelli G</searchLink><br /><searchLink fieldCode="AU" term="%22Abad+C%22">Abad C</searchLink><br /><searchLink fieldCode="AU" term="%22Lei+C%22">Lei C</searchLink><br /><searchLink fieldCode="AU" term="%22Zhang+L%22">Zhang L</searchLink><br /><searchLink fieldCode="AU" term="%22Diaz-Horta+O%22">Diaz-Horta O</searchLink><br /><searchLink fieldCode="AU" term="%22Young+JI%22">Young JI</searchLink><br /><searchLink fieldCode="AU" term="%22Callen+DF%22">Callen DF</searchLink><br /><searchLink fieldCode="AU" term="%22Tekin+M%22">Tekin M</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2015 Feb; Vol. 134 (2), pp. 181-90. <i>Date of Electronic Publication: </i>2014 Nov 21. – Name: TypePub Label: Publication Type Group: TypPub Data: Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>7613873 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406717%22">03406717 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=25413698 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s00439-014-1509-2 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 181 Titles: – TitleFull: Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Walz K – PersonEntity: Name: NameFull: Cohen D – PersonEntity: Name: NameFull: Neilsen PM – PersonEntity: Name: NameFull: Foster J 2nd – PersonEntity: Name: NameFull: Brancati F – PersonEntity: Name: NameFull: Demir K – PersonEntity: Name: NameFull: Fisher R – PersonEntity: Name: NameFull: Moffat M – PersonEntity: Name: NameFull: Verbeek NE – PersonEntity: Name: NameFull: Bjørgo K – PersonEntity: Name: NameFull: Lo Castro A – PersonEntity: Name: NameFull: Curatolo P – PersonEntity: Name: NameFull: Novelli G – PersonEntity: Name: NameFull: Abad C – PersonEntity: Name: NameFull: Lei C – PersonEntity: Name: NameFull: Zhang L – PersonEntity: Name: NameFull: Diaz-Horta O – PersonEntity: Name: NameFull: Young JI – PersonEntity: Name: NameFull: Callen DF – PersonEntity: Name: NameFull: Tekin M IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 02 Text: 2015 Feb Type: published Y: 2015 Identifiers: – Type: issn-electronic Value: 1432-1203 Numbering: – Type: volume Value: 134 – Type: issue Value: 2 Titles: – TitleFull: Human genetics Type: main |
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