Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
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| Title: | Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. |
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| Authors: | Schmidts M; Molecular Medicine Unit, University College London Institute of Child Health, London, UK., Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanović R, Peco-Antić A, Mache C, Hurles ME, Joksić I, Guć-Šćekić M, Dobricic J, Brankovic-Magic M, Bolz HJ, Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, Bergmann C |
| Source: | Human mutation [Hum Mutat] 2013 May; Vol. 34 (5), pp. 714-24. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 23418020 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Schmidts+M%22">Schmidts M</searchLink>; Molecular Medicine Unit, University College London Institute of Child Health, London, UK.<br /><searchLink fieldCode="AU" term="%22Frank+V%22">Frank V</searchLink><br /><searchLink fieldCode="AU" term="%22Eisenberger+T%22">Eisenberger T</searchLink><br /><searchLink fieldCode="AU" term="%22Al+Turki+S%22">Al Turki S</searchLink><br /><searchLink fieldCode="AU" term="%22Bizet+AA%22">Bizet AA</searchLink><br /><searchLink fieldCode="AU" term="%22Antony+D%22">Antony D</searchLink><br /><searchLink fieldCode="AU" term="%22Rix+S%22">Rix S</searchLink><br /><searchLink fieldCode="AU" term="%22Decker+C%22">Decker C</searchLink><br /><searchLink fieldCode="AU" term="%22Bachmann+N%22">Bachmann N</searchLink><br /><searchLink fieldCode="AU" term="%22Bald+M%22">Bald M</searchLink><br /><searchLink fieldCode="AU" term="%22Vinke+T%22">Vinke T</searchLink><br /><searchLink fieldCode="AU" term="%22Toenshoff+B%22">Toenshoff B</searchLink><br /><searchLink fieldCode="AU" term="%22Di+Donato+N%22">Di Donato N</searchLink><br /><searchLink fieldCode="AU" term="%22Neuhann+T%22">Neuhann T</searchLink><br /><searchLink fieldCode="AU" term="%22Hartley+JL%22">Hartley JL</searchLink><br /><searchLink fieldCode="AU" term="%22Maher+ER%22">Maher ER</searchLink><br /><searchLink fieldCode="AU" term="%22Bogdanović+R%22">Bogdanović R</searchLink><br /><searchLink fieldCode="AU" term="%22Peco-Antić+A%22">Peco-Antić A</searchLink><br /><searchLink fieldCode="AU" term="%22Mache+C%22">Mache C</searchLink><br /><searchLink fieldCode="AU" term="%22Hurles+ME%22">Hurles ME</searchLink><br /><searchLink fieldCode="AU" term="%22Joksić+I%22">Joksić I</searchLink><br /><searchLink fieldCode="AU" term="%22Guć-Šćekić+M%22">Guć-Šćekić M</searchLink><br /><searchLink fieldCode="AU" term="%22Dobricic+J%22">Dobricic J</searchLink><br /><searchLink fieldCode="AU" term="%22Brankovic-Magic+M%22">Brankovic-Magic M</searchLink><br /><searchLink fieldCode="AU" term="%22Bolz+HJ%22">Bolz HJ</searchLink><br /><searchLink fieldCode="AU" term="%22Pazour+GJ%22">Pazour GJ</searchLink><br /><searchLink fieldCode="AU" term="%22Beales+PL%22">Beales PL</searchLink><br /><searchLink fieldCode="AU" term="%22Scambler+PJ%22">Scambler PJ</searchLink><br /><searchLink fieldCode="AU" term="%22Saunier+S%22">Saunier S</searchLink><br /><searchLink fieldCode="AU" term="%22Mitchison+HM%22">Mitchison HM</searchLink><br /><searchLink fieldCode="AU" term="%22Bergmann+C%22">Bergmann C</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2013 May; Vol. 34 (5), pp. 714-24. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=23418020 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/humu.22294 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 714 Titles: – TitleFull: Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Schmidts M – PersonEntity: Name: NameFull: Frank V – PersonEntity: Name: NameFull: Eisenberger T – PersonEntity: Name: NameFull: Al Turki S – PersonEntity: Name: NameFull: Bizet AA – PersonEntity: Name: NameFull: Antony D – PersonEntity: Name: NameFull: Rix S – PersonEntity: Name: NameFull: Decker C – PersonEntity: Name: NameFull: Bachmann N – PersonEntity: Name: NameFull: Bald M – PersonEntity: Name: NameFull: Vinke T – PersonEntity: Name: NameFull: Toenshoff B – PersonEntity: Name: NameFull: Di Donato N – PersonEntity: Name: NameFull: Neuhann T – PersonEntity: Name: NameFull: Hartley JL – PersonEntity: Name: NameFull: Maher ER – PersonEntity: Name: NameFull: Bogdanović R – PersonEntity: Name: NameFull: Peco-Antić A – PersonEntity: Name: NameFull: Mache C – PersonEntity: Name: NameFull: Hurles ME – PersonEntity: Name: NameFull: Joksić I – PersonEntity: Name: NameFull: Guć-Šćekić M – PersonEntity: Name: NameFull: Dobricic J – PersonEntity: Name: NameFull: Brankovic-Magic M – PersonEntity: Name: NameFull: Bolz HJ – PersonEntity: Name: NameFull: Pazour GJ – PersonEntity: Name: NameFull: Beales PL – PersonEntity: Name: NameFull: Scambler PJ – PersonEntity: Name: NameFull: Saunier S – PersonEntity: Name: NameFull: Mitchison HM – PersonEntity: Name: NameFull: Bergmann C IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 05 Text: 2013 May Type: published Y: 2013 Identifiers: – Type: issn-electronic Value: 1098-1004 Numbering: – Type: volume Value: 34 – Type: issue Value: 5 Titles: – TitleFull: Human mutation Type: main |
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