Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
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| Title: | Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. |
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| Authors: | Dimassi, S.1,2,3,4,5, Labalme, A.1, Ville, D.6, Calender, A.3,7, Mignot, C.8,9, Boutry‐Kryza, N.2,3,7, de Bellescize, J.10, Rivier‐Ringenbach, C.11, Bourel‐Ponchel, E.9, Cheillan, D.3,12, Simonet, T.13, Maincent, K.14, Rossi, M.1,2, Till, M.1, Mougou‐Zerelli, S.4,5, Edery, P.1,2,3, Saad, A.4,5, Heron, D.8,15, des Portes, V.6,7,16, Sanlaville, D.1,2,3 |
| Source: | Clinical Genetics. Feb2016, Vol. 89 Issue 2, p198-204. 6p. 2 Black and White Photographs, 1 Chart. |
| Database: | Academic Search Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 112377088 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=112377088 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/cge.12636 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 6 StartPage: 198 Titles: – TitleFull: Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Dimassi, S. – PersonEntity: Name: NameFull: Labalme, A. – PersonEntity: Name: NameFull: Ville, D. – PersonEntity: Name: NameFull: Calender, A. – PersonEntity: Name: NameFull: Mignot, C. – PersonEntity: Name: NameFull: Boutry‐Kryza, N. – PersonEntity: Name: NameFull: de Bellescize, J. – PersonEntity: Name: NameFull: Rivier‐Ringenbach, C. – PersonEntity: Name: NameFull: Bourel‐Ponchel, E. – PersonEntity: Name: NameFull: Cheillan, D. – PersonEntity: Name: NameFull: Simonet, T. – PersonEntity: Name: NameFull: Maincent, K. – PersonEntity: Name: NameFull: Rossi, M. – PersonEntity: Name: NameFull: Till, M. – PersonEntity: Name: NameFull: Mougou‐Zerelli, S. – PersonEntity: Name: NameFull: Edery, P. – PersonEntity: Name: NameFull: Saad, A. – PersonEntity: Name: NameFull: Heron, D. – PersonEntity: Name: NameFull: des Portes, V. – PersonEntity: Name: NameFull: Sanlaville, D. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 02 Text: Feb2016 Type: published Y: 2016 Identifiers: – Type: issn-print Value: 00099163 Numbering: – Type: volume Value: 89 – Type: issue Value: 2 Titles: – TitleFull: Clinical Genetics Type: main |
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