View in EDS HTML Full Text PDF Full Text

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.

Saved in:
Bibliographic Details
Title: Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.
Authors: Wallis, Mathew1,2,3 (AUTHOR), Bodek, Simon D.1,4 (AUTHOR) simon.bodek@austin.org.au, Munro, Jacob5,6 (AUTHOR), Rafehi, Haloom5,6 (AUTHOR), Bennett, Mark F.5,6,7 (AUTHOR), Ye, Zimeng7 (AUTHOR), Schneider, Amy7 (AUTHOR), Gardiner, Fiona7 (AUTHOR), Valente, Giulia1 (AUTHOR), Murdoch, Emma1 (AUTHOR), Uebergang, Eloise1,8 (AUTHOR), Hunter, Jacquie1 (AUTHOR), Stutterd, Chloe1,8,9,10 (AUTHOR), Huq, Aamira1,11 (AUTHOR), Salmon, Lucinda1,12 (AUTHOR), Scheffer, Ingrid1,7,13 (AUTHOR), Eratne, Dhamidhu1,7,14 (AUTHOR), Meyn, Stephen15 (AUTHOR), Fong, Chun Y.1 (AUTHOR), John, Tom1,4,16 (AUTHOR)
Source: Orphanet Journal of Rare Diseases. 8/2/2024, Vol. 19 Issue 1, p1-14. 14p.
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: 178806625
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Wallis%2C+Mathew%22">Wallis, Mathew</searchLink><relatesTo>1,2,3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bodek%2C+Simon+D%2E%22">Bodek, Simon D.</searchLink><relatesTo>1,4</relatesTo> (AUTHOR)<i> simon.bodek@austin.org.au</i><br /><searchLink fieldCode="AR" term="%22Munro%2C+Jacob%22">Munro, Jacob</searchLink><relatesTo>5,6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rafehi%2C+Haloom%22">Rafehi, Haloom</searchLink><relatesTo>5,6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bennett%2C+Mark+F%2E%22">Bennett, Mark F.</searchLink><relatesTo>5,6,7</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ye%2C+Zimeng%22">Ye, Zimeng</searchLink><relatesTo>7</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Schneider%2C+Amy%22">Schneider, Amy</searchLink><relatesTo>7</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gardiner%2C+Fiona%22">Gardiner, Fiona</searchLink><relatesTo>7</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Valente%2C+Giulia%22">Valente, Giulia</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Murdoch%2C+Emma%22">Murdoch, Emma</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Uebergang%2C+Eloise%22">Uebergang, Eloise</searchLink><relatesTo>1,8</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Hunter%2C+Jacquie%22">Hunter, Jacquie</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Stutterd%2C+Chloe%22">Stutterd, Chloe</searchLink><relatesTo>1,8,9,10</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Huq%2C+Aamira%22">Huq, Aamira</searchLink><relatesTo>1,11</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Salmon%2C+Lucinda%22">Salmon, Lucinda</searchLink><relatesTo>1,12</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Scheffer%2C+Ingrid%22">Scheffer, Ingrid</searchLink><relatesTo>1,7,13</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Eratne%2C+Dhamidhu%22">Eratne, Dhamidhu</searchLink><relatesTo>1,7,14</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Meyn%2C+Stephen%22">Meyn, Stephen</searchLink><relatesTo>15</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Fong%2C+Chun+Y%2E%22">Fong, Chun Y.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22John%2C+Tom%22">John, Tom</searchLink><relatesTo>1,4,16</relatesTo> (AUTHOR)
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 8/2/2024, Vol. 19 Issue 1, p1-14. 14p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=178806625
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s13023-024-03297-5
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 14
        StartPage: 1
    Titles:
      – TitleFull: Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Wallis, Mathew
      – PersonEntity:
          Name:
            NameFull: Bodek, Simon D.
      – PersonEntity:
          Name:
            NameFull: Munro, Jacob
      – PersonEntity:
          Name:
            NameFull: Rafehi, Haloom
      – PersonEntity:
          Name:
            NameFull: Bennett, Mark F.
      – PersonEntity:
          Name:
            NameFull: Ye, Zimeng
      – PersonEntity:
          Name:
            NameFull: Schneider, Amy
      – PersonEntity:
          Name:
            NameFull: Gardiner, Fiona
      – PersonEntity:
          Name:
            NameFull: Valente, Giulia
      – PersonEntity:
          Name:
            NameFull: Murdoch, Emma
      – PersonEntity:
          Name:
            NameFull: Uebergang, Eloise
      – PersonEntity:
          Name:
            NameFull: Hunter, Jacquie
      – PersonEntity:
          Name:
            NameFull: Stutterd, Chloe
      – PersonEntity:
          Name:
            NameFull: Huq, Aamira
      – PersonEntity:
          Name:
            NameFull: Salmon, Lucinda
      – PersonEntity:
          Name:
            NameFull: Scheffer, Ingrid
      – PersonEntity:
          Name:
            NameFull: Eratne, Dhamidhu
      – PersonEntity:
          Name:
            NameFull: Meyn, Stephen
      – PersonEntity:
          Name:
            NameFull: Fong, Chun Y.
      – PersonEntity:
          Name:
            NameFull: John, Tom
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 02
              M: 08
              Text: 8/2/2024
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-print
              Value: 17501172
          Numbering:
            – Type: volume
              Value: 19
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Orphanet Journal of Rare Diseases
              Type: main
ResultId 1