Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series.

Saved in:
Bibliographic Details
Title: Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series.
Authors: Oh, Jin Kyun1,2 (AUTHOR), Vargas Del Valle, José G.3 (AUTHOR), Lima de Carvalho Jr, Jose Ronaldo1,4,5 (AUTHOR), Sun, Young Joo6 (AUTHOR), Levi, Sarah R.1 (AUTHOR), Ryu, Joseph1 (AUTHOR), Yang, Jing6 (AUTHOR), Nagasaki, Takayuki1 (AUTHOR), Emanuelli, Andres7 (AUTHOR), Rasool, Nailyn8 (AUTHOR), Allikmets, Rando1,9 (AUTHOR), Sparrow, Janet R.1,9 (AUTHOR), Izquierdo, Natalio J.10 (AUTHOR), Duncan, Jacque L.8 (AUTHOR), Mahajan, Vinit B.6,11 (AUTHOR), Tsang, Stephen H.1,9,12 (AUTHOR) sht2@cumc.columbia.edu, Lima de Carvalho, Jose Ronaldo Jr1,4,5 (AUTHOR)
Source: Orphanet Journal of Rare Diseases. 4/1/2022, Vol. 17 Issue 1, p1-10. 10p.
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: 156100180
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Oh%2C+Jin+Kyun%22">Oh, Jin Kyun</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Vargas+Del+Valle%2C+José+G%2E%22">Vargas Del Valle, José G.</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lima+de+Carvalho+Jr%2C+Jose+Ronaldo%22">Lima de Carvalho Jr, Jose Ronaldo</searchLink><relatesTo>1,4,5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sun%2C+Young+Joo%22">Sun, Young Joo</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Levi%2C+Sarah+R%2E%22">Levi, Sarah R.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ryu%2C+Joseph%22">Ryu, Joseph</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Yang%2C+Jing%22">Yang, Jing</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Nagasaki%2C+Takayuki%22">Nagasaki, Takayuki</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Emanuelli%2C+Andres%22">Emanuelli, Andres</searchLink><relatesTo>7</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rasool%2C+Nailyn%22">Rasool, Nailyn</searchLink><relatesTo>8</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Allikmets%2C+Rando%22">Allikmets, Rando</searchLink><relatesTo>1,9</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sparrow%2C+Janet+R%2E%22">Sparrow, Janet R.</searchLink><relatesTo>1,9</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Izquierdo%2C+Natalio+J%2E%22">Izquierdo, Natalio J.</searchLink><relatesTo>10</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Duncan%2C+Jacque+L%2E%22">Duncan, Jacque L.</searchLink><relatesTo>8</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mahajan%2C+Vinit+B%2E%22">Mahajan, Vinit B.</searchLink><relatesTo>6,11</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Tsang%2C+Stephen+H%2E%22">Tsang, Stephen H.</searchLink><relatesTo>1,9,12</relatesTo> (AUTHOR)<i> sht2@cumc.columbia.edu</i><br /><searchLink fieldCode="AR" term="%22Lima+de+Carvalho%2C+Jose+Ronaldo+Jr%22">Lima de Carvalho, Jose Ronaldo Jr</searchLink><relatesTo>1,4,5</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>. 4/1/2022, Vol. 17 Issue 1, p1-10. 10p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=156100180
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s13023-022-02295-9
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 10
        StartPage: 1
    Titles:
      – TitleFull: Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Oh, Jin Kyun
      – PersonEntity:
          Name:
            NameFull: Vargas Del Valle, José G.
      – PersonEntity:
          Name:
            NameFull: Lima de Carvalho Jr, Jose Ronaldo
      – PersonEntity:
          Name:
            NameFull: Sun, Young Joo
      – PersonEntity:
          Name:
            NameFull: Levi, Sarah R.
      – PersonEntity:
          Name:
            NameFull: Ryu, Joseph
      – PersonEntity:
          Name:
            NameFull: Yang, Jing
      – PersonEntity:
          Name:
            NameFull: Nagasaki, Takayuki
      – PersonEntity:
          Name:
            NameFull: Emanuelli, Andres
      – PersonEntity:
          Name:
            NameFull: Rasool, Nailyn
      – PersonEntity:
          Name:
            NameFull: Allikmets, Rando
      – PersonEntity:
          Name:
            NameFull: Sparrow, Janet R.
      – PersonEntity:
          Name:
            NameFull: Izquierdo, Natalio J.
      – PersonEntity:
          Name:
            NameFull: Duncan, Jacque L.
      – PersonEntity:
          Name:
            NameFull: Mahajan, Vinit B.
      – PersonEntity:
          Name:
            NameFull: Tsang, Stephen H.
      – PersonEntity:
          Name:
            NameFull: Lima de Carvalho, Jose Ronaldo Jr
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 04
              Text: 4/1/2022
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-print
              Value: 17501172
          Numbering:
            – Type: volume
              Value: 17
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Orphanet Journal of Rare Diseases
              Type: main
ResultId 1