View in EDS HTML Full Text PDF Full Text

Exploring copy number variations in Lebanese families with rod-cone dystrophy reveals a novel deletion in PRPF31 with haploinsufficiency.

Saved in:
Bibliographic Details
Title: Exploring copy number variations in Lebanese families with rod-cone dystrophy reveals a novel deletion in PRPF31 with haploinsufficiency.
Authors: Mousawi, Zahraa1 (AUTHOR), Choukeir, Maysa1 (AUTHOR), Jaffal, Lama1,2 (AUTHOR), Karam, Louna3 (AUTHOR), Assi, Alexandre4 (AUTHOR), Ibrahim, José-Noel3 (AUTHOR), Chebly, Alain5 (AUTHOR), El Shamieh, Said1 (AUTHOR) s.elshamieh@bau.edu.lb
Source: Ophthalmic Genetics. Oct2025, Vol. 46 Issue 5, p440-446. 7p.
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: 188157249
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Exploring copy number variations in Lebanese families with rod-cone dystrophy reveals a novel deletion in PRPF31 with haploinsufficiency.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Mousawi%2C+Zahraa%22">Mousawi, Zahraa</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Choukeir%2C+Maysa%22">Choukeir, Maysa</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Jaffal%2C+Lama%22">Jaffal, Lama</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Karam%2C+Louna%22">Karam, Louna</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Assi%2C+Alexandre%22">Assi, Alexandre</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ibrahim%2C+José-Noel%22">Ibrahim, José-Noel</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Chebly%2C+Alain%22">Chebly, Alain</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22El+Shamieh%2C+Said%22">El Shamieh, Said</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> s.elshamieh@bau.edu.lb</i>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Ophthalmic+Genetics%22">Ophthalmic Genetics</searchLink>. Oct2025, Vol. 46 Issue 5, p440-446. 7p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=188157249
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1080/13816810.2025.2495945
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 7
        StartPage: 440
    Titles:
      – TitleFull: Exploring copy number variations in Lebanese families with rod-cone dystrophy reveals a novel deletion in PRPF31 with haploinsufficiency.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Mousawi, Zahraa
      – PersonEntity:
          Name:
            NameFull: Choukeir, Maysa
      – PersonEntity:
          Name:
            NameFull: Jaffal, Lama
      – PersonEntity:
          Name:
            NameFull: Karam, Louna
      – PersonEntity:
          Name:
            NameFull: Assi, Alexandre
      – PersonEntity:
          Name:
            NameFull: Ibrahim, José-Noel
      – PersonEntity:
          Name:
            NameFull: Chebly, Alain
      – PersonEntity:
          Name:
            NameFull: El Shamieh, Said
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 10
              Text: Oct2025
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-print
              Value: 13816810
          Numbering:
            – Type: volume
              Value: 46
            – Type: issue
              Value: 5
          Titles:
            – TitleFull: Ophthalmic Genetics
              Type: main
ResultId 1