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Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene.

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Title: Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene.
Authors: Elsayed MEA; Oxford Eye Hospital, Oxford, UK., Ali SM; Moorfields Eye Hospitals UAE, Abu Dhabi, United Arab Emirates.; Danat Al Emarat Hospital, Abu Dhabi, United Arab Emirates.; Mohammed Bin Rashed University, Dubai, United Arab Emirates., Gardner C; Department of Diagnostic Radiology, Cleveland Clinic, Cleveland, OH, USA., Kozak I; Moorfields Eye Hospitals UAE, Abu Dhabi, United Arab Emirates.; Danat Al Emarat Hospital, Abu Dhabi, United Arab Emirates.; Mohammed Bin Rashed University, Dubai, United Arab Emirates.
Source: American journal of ophthalmology case reports [Am J Ophthalmol Case Rep] 2024 Jun 14; Vol. 36, pp. 102091. Date of Electronic Publication: 2024 Jun 14 (Print Publication: 2024).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Elsevier, Inc Country of Publication: United States NLM ID: 101679941 Publication Model: eCollection Cited Medium: Internet ISSN: 2451-9936 (Electronic) Linking ISSN: 24519936 NLM ISO Abbreviation: Am J Ophthalmol Case Rep Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene.
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  Data: <searchLink fieldCode="AU" term="%22Elsayed+MEA%22">Elsayed MEA</searchLink>; Oxford Eye Hospital, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Ali+SM%22">Ali SM</searchLink>; Moorfields Eye Hospitals UAE, Abu Dhabi, United Arab Emirates.; Danat Al Emarat Hospital, Abu Dhabi, United Arab Emirates.; Mohammed Bin Rashed University, Dubai, United Arab Emirates.<br /><searchLink fieldCode="AU" term="%22Gardner+C%22">Gardner C</searchLink>; Department of Diagnostic Radiology, Cleveland Clinic, Cleveland, OH, USA.<br /><searchLink fieldCode="AU" term="%22Kozak+I%22">Kozak I</searchLink>; Moorfields Eye Hospitals UAE, Abu Dhabi, United Arab Emirates.; Danat Al Emarat Hospital, Abu Dhabi, United Arab Emirates.; Mohammed Bin Rashed University, Dubai, United Arab Emirates.
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  Data: <searchLink fieldCode="JN" term="%22101679941%22">American journal of ophthalmology case reports</searchLink> [Am J Ophthalmol Case Rep] 2024 Jun 14; Vol. 36, pp. 102091. <i>Date of Electronic Publication: </i>2024 Jun 14 (<i>Print Publication: </i>2024).
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  Data: Case Reports; Journal Article
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%2C+Inc%22">Elsevier, Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101679941 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>2451-9936 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2224519936%22">24519936 </searchLink><i>NLM ISO Abbreviation: </i>Am J Ophthalmol Case Rep <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39027323
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      – Type: doi
        Value: 10.1016/j.ajoc.2024.102091
    Languages:
      – Code: eng
        Text: English
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        StartPage: 102091
    Titles:
      – TitleFull: Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene.
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            NameFull: Elsayed MEA
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            NameFull: Ali SM
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            NameFull: Gardner C
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          Name:
            NameFull: Kozak I
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          Dates:
            – D: 14
              M: 06
              Text: 2024 Jun 14
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 2451-9936
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            – Type: volume
              Value: 36
          Titles:
            – TitleFull: American journal of ophthalmology case reports
              Type: main
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