Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

Saved in:
Bibliographic Details
Title: Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
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
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: asn
DbLabel: Academic Search Ultimate
An: 112377088
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Dimassi%2C+S%2E%22">Dimassi, S.</searchLink><relatesTo>1,2,3,4,5</relatesTo><br /><searchLink fieldCode="AR" term="%22Labalme%2C+A%2E%22">Labalme, A.</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Ville%2C+D%2E%22">Ville, D.</searchLink><relatesTo>6</relatesTo><br /><searchLink fieldCode="AR" term="%22Calender%2C+A%2E%22">Calender, A.</searchLink><relatesTo>3,7</relatesTo><br /><searchLink fieldCode="AR" term="%22Mignot%2C+C%2E%22">Mignot, C.</searchLink><relatesTo>8,9</relatesTo><br /><searchLink fieldCode="AR" term="%22Boutry‐Kryza%2C+N%2E%22">Boutry‐Kryza, N.</searchLink><relatesTo>2,3,7</relatesTo><br /><searchLink fieldCode="AR" term="%22de+Bellescize%2C+J%2E%22">de Bellescize, J.</searchLink><relatesTo>10</relatesTo><br /><searchLink fieldCode="AR" term="%22Rivier‐Ringenbach%2C+C%2E%22">Rivier‐Ringenbach, C.</searchLink><relatesTo>11</relatesTo><br /><searchLink fieldCode="AR" term="%22Bourel‐Ponchel%2C+E%2E%22">Bourel‐Ponchel, E.</searchLink><relatesTo>9</relatesTo><br /><searchLink fieldCode="AR" term="%22Cheillan%2C+D%2E%22">Cheillan, D.</searchLink><relatesTo>3,12</relatesTo><br /><searchLink fieldCode="AR" term="%22Simonet%2C+T%2E%22">Simonet, T.</searchLink><relatesTo>13</relatesTo><br /><searchLink fieldCode="AR" term="%22Maincent%2C+K%2E%22">Maincent, K.</searchLink><relatesTo>14</relatesTo><br /><searchLink fieldCode="AR" term="%22Rossi%2C+M%2E%22">Rossi, M.</searchLink><relatesTo>1,2</relatesTo><br /><searchLink fieldCode="AR" term="%22Till%2C+M%2E%22">Till, M.</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Mougou‐Zerelli%2C+S%2E%22">Mougou‐Zerelli, S.</searchLink><relatesTo>4,5</relatesTo><br /><searchLink fieldCode="AR" term="%22Edery%2C+P%2E%22">Edery, P.</searchLink><relatesTo>1,2,3</relatesTo><br /><searchLink fieldCode="AR" term="%22Saad%2C+A%2E%22">Saad, A.</searchLink><relatesTo>4,5</relatesTo><br /><searchLink fieldCode="AR" term="%22Heron%2C+D%2E%22">Heron, D.</searchLink><relatesTo>8,15</relatesTo><br /><searchLink fieldCode="AR" term="%22des+Portes%2C+V%2E%22">des Portes, V.</searchLink><relatesTo>6,7,16</relatesTo><br /><searchLink fieldCode="AR" term="%22Sanlaville%2C+D%2E%22">Sanlaville, D.</searchLink><relatesTo>1,2,3</relatesTo>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Clinical+Genetics%22">Clinical Genetics</searchLink>. Feb2016, Vol. 89 Issue 2, p198-204. 6p. 2 Black and White Photographs, 1 Chart.
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
ResultId 1