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2022
Mark Electrophysiological evaluation and 18-month follow-up of two regimens with aflibercept for neovascular age-related macular degeneration
Schroeder, Marion ^LU ; Kjellström, Ulrika ^LU and Lövestam-Adrian, Monica ^LU (2022) In Documenta Ophthalmologica 144(2). p.99-115
- Contribution to journal › Article
Mark A novel phenotype associated with the R162W variant in the KCNJ13 gene
Schroeder, Marion ^LU ; Peter, Virginie G. ; Gränse, Lotta ^LU ; Andréasson, Sten ^LU ; Rivolta, Carlo and Kjellström, Ulrika ^LU (2022) In Ophthalmic Genetics 43(4). p.500-507
- Contribution to journal › Article
2021
Mark Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene
Kjellström, Ulrika ^LU ; Martell, Susanne ^LU ; Brobeck, Cecilia ^LU and Andréasson, Sten ^LU (2021) In Ophthalmic Genetics 42(2). p.161-169
- Contribution to journal › Article
2019
Mark Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?
Gorcenco, Sorina ^LU ; Vaz, Frédéric M. ; Tracewska-Siemiatkowska, Anna ; Tranebjærg, Lisbeth ; Cremers, Frans P.M. ; Ygland, Emil ^LU ; Kicsi, Jenő ; Rendtorff, Nanna Dahl ; Möller, Claes and Kjellström, Ulrika ^LU , et al. (2019) In Parkinsonism & Related Disorders 61. p.245-247
- Contribution to journal › Letter
2018
Mark Full-field ERG as a predictor of the natural course of ABCA4-associated retinal degenerations
Schroeder, Marion ^LU and Kjellström, Ulrika ^LU (2018) In Molecular Vision 24. p.1-16
- Contribution to journal › Article
2017
Mark An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
Tracewska-Siemiątkowska, Anna ; Haer-Wigman, Lonneke ; Bosch, Danielle G M ; Nickerson, Deborah ; Bamshad, Michael J ; van de Vorst, Maartje ; Rendtorff, Nanna Dahl ; Möller, Claes ; Kjellström, Ulrika ^LU and Andréasson, Sten ^LU , et al. (2017) In Genes 8(12).
- Contribution to journal › Article
Mark Ataxia-pancytopenia syndrome with SAMD9L mutations
Gorcenco, Sorina ^LU ; Komulainen-Ebrahim, Jonna ; Nordborg, Karin ; Suo-Palosaari, Maria ; Andréasson, Sten ^LU ; Krüger, Johanna ; Nilsson, Christer ^LU ; Kjellström, Ulrika ^LU ; Rahikkala, Elisa and Turkiewicz, Dominik , et al. (2017) In Neurology: Genetics 3(5).
- Contribution to journal › Article
2016
Mark Characterization of macular structure and function in two swedish families with genetically identified autosomal dominant retinitis pigmentosa
Abdulridha-Aboud, Wissam ^LU ; Kjellström, Ulrika ^LU ; Andréasson, Sten ^LU and Ponjavic, Vesna ^LU (2016) In Molecular Vision 22. p.362-373
- Contribution to journal › Article
Mark Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects
Nikopoulos, Konstantinos ; Farinelli, Pietro ; Giangreco, Basilio ; Tsika, Chrysanthi ; Royer-Bertrand, Beryl ; Mbefo, Martial K ; Bedoni, Nicola ; Kjellström, Ulrika ^LU ; El Zaoui, Ikram and Di Gioia, Silvio Alessandro , et al. (2016) In American Journal of Human Genetics 99(3). p.770-776
- Contribution to journal › Article
Mark Increased Plasma cGMP in a Family With Autosomal Recessive Retinitis Pigmentosa Due to Homozygous Mutations in the PDE6A Gene
Kjellström, Ulrika ^LU ; Veiga-Crespo, Patricia ^LU ; Andréasson, Sten ^LU and Ekström, Per ^LU (2016) In Investigative Ophthalmology and Visual Science 57(14). p.6048-6057
- Contribution to journal › Article

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