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Ophthalmic Genetics Volume 38, 2017 - Issue 6
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Research Reports

Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib

Maha MameeshDepartment of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Oman
,
Anuradha GaneshDepartment of Ophthalmology, Sultan Qaboos University Hospital, Muscat, OmanCorrespondence[email protected]
,
Beena HarikrishnaDepartment of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Oman
,
Sana Al ZuhaibiDepartment of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Oman
,
Patrick ScottDepartment of Genetics, Sultan Qaboos University Hospital, Muscat, Oman
,
Sami Al KalbaniDepartment of Genetics, Sultan Qaboos University Hospital, Muscat, Oman
&
Khalid Al ThihliDepartment of Genetics, Sultan Qaboos University Hospital, Muscat, Oman
 show all
Pages 544-548 | Received 27 Jan 2017, Accepted 16 Apr 2017, Published online: 16 May 2017

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Gonçalo Godinho, Carolina Madeira, Ana Grangeia, Pedro Neves-Cardoso, Renato Santos-Silva, Elisete Brandão, Ângela Carneiro, Fernando Falcão-Reis & Sérgio Estrela-Silva. (2020) A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia. Ophthalmic Genetics 41:5, pages 474-479.
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Articles from other publishers (5)

Elena Lang, Samuel Koller, David Atac, Oliver A. Pfäffli, James V.M. Hanson, Silke Feil, Luzy Bähr, Angela Bahr, Raimund Kottke, Pascal Joset, Katrin Fasler, Daniel Barthelmes, Katharina Steindl, Daniel Konrad, David‐Alexander Wille, Wolfgang Berger & Christina Gerth‐Kahlert. (2020) Genotype–phenotype spectrum in isolated and syndromic nanophthalmos. Acta Ophthalmologica 99:4.
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Pedro C. Carricondo & Lucca O. Hansen. (2020) Nanophthalmos: a systematic review of the clinical spectrum of nanophthalmos, its genetic basis, prevalence, incidence, clinical and surgical management. Minerva Oftalmologica 61:3-4.
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Carlota Pascoal, Rita Francisco, Tiago Ferro, Vanessa dos Reis Ferreira, Jaak Jaeken & Paula A. Videira. (2019) CDG and immune response: From bedside to bench and back. Journal of Inherited Metabolic Disease 43:1, pages 90-124.
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Anil ChekuriBhubanananda SahuVenkata Ramana Murthy ChavaliMarina VoronchikhinaAngel Soto-HermidaJohn J. SukAkhila N. AlapatiDirk-Uwe BartschRaul Ayala-RamirezJuan C. ZentenoAstra DinculescuMonica M. JablonskiShyamanga BorooahRadha Ayyagari. (2019) Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human MFRP -Associated Retinopathy . Human Gene Therapy 30:5, pages 632-650.
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Pedro C. Carricondo, Thais Andrade, Lev Prasov, Bernadete M. Ayres & Sayoko E. Moroi. (2018) Nanophthalmos: A Review of the Clinical Spectrum and Genetics. Journal of Ophthalmology 2018, pages 1-9.
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