A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.
Saved in:
| Title: | A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly. |
|---|---|
| Authors: | Jackson, C. christopher.jackson@helsinki.fi, Bauer, M.1 bauermat@klilu.de, Schaller, A.2 Andre.Schaller@insel.ch, Kotzaeridou, U.3 Urania.Kotzaeridou@med.uni-heidelberg.de, Ferrarini, A.4 Alessandra.Ferrarini@eoc.ch, Hahn, D.5 Dagmar.Hahn@insel.ch, Chehade, H.6 Hassib.Chehade@chuv.ch, Barbey, F.7 Frederic.Barbey@chuv.ch, Tran, C.7 Christel.Tran@chuv.ch, Gallati, S.2 Sabina.Gallati@insel.ch, Haeberli, A.5 Annemarie.Haeberli@insel.ch, Eggimann, S.5 Sandra.eggimann@insel.ch, Bonafé, L.7 Luisa.Bonafe@chuv.ch, Nuoffer, J-M.5 Jean-Marc.Nuoffer@insel.ch, Jackson, C B8,9 (AUTHOR), Bauer, M F10 (AUTHOR), Bonafé, L11 (AUTHOR) |
| Source: | European Journal of Pediatrics. Apr2016, Vol. 175 Issue 4, p517-525. 9p. 1 Black and White Photograph, 2 Diagrams, 1 Chart. |
| Database: | Academic Search Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
|---|---|
| Header | DbId: asn DbLabel: Academic Search Ultimate An: 113879410 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Jackson%2C+C%2E%22">Jackson, C.</searchLink><i> christopher.jackson@helsinki.fi</i><br /><searchLink fieldCode="AR" term="%22Bauer%2C+M%2E%22">Bauer, M.</searchLink><relatesTo>1</relatesTo><i> bauermat@klilu.de</i><br /><searchLink fieldCode="AR" term="%22Schaller%2C+A%2E%22">Schaller, A.</searchLink><relatesTo>2</relatesTo><i> Andre.Schaller@insel.ch</i><br /><searchLink fieldCode="AR" term="%22Kotzaeridou%2C+U%2E%22">Kotzaeridou, U.</searchLink><relatesTo>3</relatesTo><i> Urania.Kotzaeridou@med.uni-heidelberg.de</i><br /><searchLink fieldCode="AR" term="%22Ferrarini%2C+A%2E%22">Ferrarini, A.</searchLink><relatesTo>4</relatesTo><i> Alessandra.Ferrarini@eoc.ch</i><br /><searchLink fieldCode="AR" term="%22Hahn%2C+D%2E%22">Hahn, D.</searchLink><relatesTo>5</relatesTo><i> Dagmar.Hahn@insel.ch</i><br /><searchLink fieldCode="AR" term="%22Chehade%2C+H%2E%22">Chehade, H.</searchLink><relatesTo>6</relatesTo><i> Hassib.Chehade@chuv.ch</i><br /><searchLink fieldCode="AR" term="%22Barbey%2C+F%2E%22">Barbey, F.</searchLink><relatesTo>7</relatesTo><i> Frederic.Barbey@chuv.ch</i><br /><searchLink fieldCode="AR" term="%22Tran%2C+C%2E%22">Tran, C.</searchLink><relatesTo>7</relatesTo><i> Christel.Tran@chuv.ch</i><br /><searchLink fieldCode="AR" term="%22Gallati%2C+S%2E%22">Gallati, S.</searchLink><relatesTo>2</relatesTo><i> Sabina.Gallati@insel.ch</i><br /><searchLink fieldCode="AR" term="%22Haeberli%2C+A%2E%22">Haeberli, A.</searchLink><relatesTo>5</relatesTo><i> Annemarie.Haeberli@insel.ch</i><br /><searchLink fieldCode="AR" term="%22Eggimann%2C+S%2E%22">Eggimann, S.</searchLink><relatesTo>5</relatesTo><i> Sandra.eggimann@insel.ch</i><br /><searchLink fieldCode="AR" term="%22Bonafé%2C+L%2E%22">Bonafé, L.</searchLink><relatesTo>7</relatesTo><i> Luisa.Bonafe@chuv.ch</i><br /><searchLink fieldCode="AR" term="%22Nuoffer%2C+J-M%2E%22">Nuoffer, J-M.</searchLink><relatesTo>5</relatesTo><i> Jean-Marc.Nuoffer@insel.ch</i><br /><searchLink fieldCode="AR" term="%22Jackson%2C+C+B%22">Jackson, C B</searchLink><relatesTo>8,9</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bauer%2C+M+F%22">Bauer, M F</searchLink><relatesTo>10</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bonafé%2C+L%22">Bonafé, L</searchLink><relatesTo>11</relatesTo> (AUTHOR) – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Pediatrics%22">European Journal of Pediatrics</searchLink>. Apr2016, Vol. 175 Issue 4, p517-525. 9p. 1 Black and White Photograph, 2 Diagrams, 1 Chart. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=113879410 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s00431-015-2661-y Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 9 StartPage: 517 Titles: – TitleFull: A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Jackson, C. – PersonEntity: Name: NameFull: Bauer, M. – PersonEntity: Name: NameFull: Schaller, A. – PersonEntity: Name: NameFull: Kotzaeridou, U. – PersonEntity: Name: NameFull: Ferrarini, A. – PersonEntity: Name: NameFull: Hahn, D. – PersonEntity: Name: NameFull: Chehade, H. – PersonEntity: Name: NameFull: Barbey, F. – PersonEntity: Name: NameFull: Tran, C. – PersonEntity: Name: NameFull: Gallati, S. – PersonEntity: Name: NameFull: Haeberli, A. – PersonEntity: Name: NameFull: Eggimann, S. – PersonEntity: Name: NameFull: Bonafé, L. – PersonEntity: Name: NameFull: Nuoffer, J-M. – PersonEntity: Name: NameFull: Jackson, C B – PersonEntity: Name: NameFull: Bauer, M F – PersonEntity: Name: NameFull: Bonafé, L IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 04 Text: Apr2016 Type: published Y: 2016 Identifiers: – Type: issn-print Value: 03406199 Numbering: – Type: volume Value: 175 – Type: issue Value: 4 Titles: – TitleFull: European Journal of Pediatrics Type: main |
| ResultId | 1 |
