Clinical research in families with inherited retinal degeneration

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2022
Mark Abnormal Appearance of the Area Centralis in Labrador Retrievers With an ABCA4 Loss-of-function Mutation
Ekesten, Björn ; Mäkeläinen, Suvi ; Ellis, Stuart ; Kjellström, Ulrika ^LU and Bergström, Tomas F (2022) In Translational vision science & technology 11(2). p.1-11
- Contribution to journal › Article
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
Mark Association of Docosahexaenoic Acid and Arachidonic Acid Serum Levels with Retinopathy of Prematurity in Preterm Infants
Hellström, Ann ; Pivodic, Aldina ; Gränse, Lotta ^LU ; Lundgren, Pia ; Sjöbom, Ulrika ; Nilsson, Anders K. ; Söderling, Helena ; Hård, Anna Lena ; Smith, Lois E.H. and Löfqvist, Chatarina Alice (2021) In JAMA Network Open 4(10).
- Contribution to journal › Article
2020
Mark New modifications of Swedish ROP guidelines based on 10-year data from the SWEDROP register
Holmström, Gerd ; Hellström, Ann ; Gränse, Lotta ^LU ; Saric, Marie ; Sunnqvist, Birgitta ; Wallin, Agneta ; Tornqvist, Kristina ^LU and Larsson, Eva (2020) In British Journal of Ophthalmology 104(7). p.943-949
- Contribution to journal › Article
2019
Mark Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene
Meinert, Monika ^LU ; Englund, Elisabet ^LU ; Hedberg-Oldfors, Carola ; Oldfors, Anders ; Kornhall, Björn ^LU ; Lundin, Catarina ^LU and Wittström, Elisabeth ^LU (2019) In Ophthalmic Genetics 40(3). p.227-236
- Contribution to journal › Article
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
Mark A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa
Peter, Virginie G. ; Nikopoulos, Konstantinos ; Quinodoz, Mathieu ; Granse, Lotta ^LU ; Farinelli, Pietro ^LU ; Superti-Furga, Andrea ; Andréasson, Sten ^LU and Rivolta, Carlo (2019) In Ophthalmic Genetics 40(2). p.177-181
- Contribution to journal › Article
2018
Mark Electrophysiology - when nothing is seen
Hugosson, Therése ^LU (2018) In Lund University, Faculty of Medicine Doctoral Dissertation Series 2018(67).
- Thesis › Doctoral thesis (compilation)

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Clinical research in families with inherited retinal degeneration

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