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Investigative Ophthalmology & Visual Science
|
July 8, 2026
Loss of ATRAID in Late-Onset, Non-Syndromic Retinitis Pigmentosa
Roya Mehrasa, Ragnhild Wivestad Jansson, Hanah Kurosawa, et al.
Orphanet Journal of Rare Diseases
|
January 5, 2013
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing
Kristoffer Haugarvoll, Stefan Johansson, Charalampos Tzoulis, et al.
American Journal of Medical Genetics. Part A
|
August 16, 2014
Ocular pterygium--digital keloid dysplasia
Hugo Abarca, Anne E Christensen Mellgren, Milana Trubnykova, et al.
Diabetes Care
|
June 12, 2008
Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations
Mette Vesterhus, Helge Raeder, Harald Aurlien, et al.
Cornea
|
March 4, 2024
Long-Term Follow-Up of Pediatric Excimer Laser-Assisted Penetrating Keratoplasty for Congenital Stromal Corneal Dystrophy
Tim Berger, Andrea Hasenfus, Cecilie Bredrup, et al.
Acta Ophthalmologica
|
October 25, 2016
The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level
Ingvild Aukrust, Ragnhild W Jansson, Cecilie Bredrup, et al.
Case Reports in Ophthalmology
|
October 9, 2025
Early-Onset Stargardt Disease Caused by Homozygosity of a Complex <i>ABCA4</i> Allele from Eastern Africa: Two Case Reports
Sigrid Aslaksen, Eirik Bratland, Mari Hamre Bu, et al.
Plos One
|
February 2, 2016
Role of Decorin Core Protein in Collagen Organisation in Congenital Stromal Corneal Dystrophy (CSCD)
Christina S Kamma-Lorger, Christian Pinali, Juan Carlos Martínez, et al.
American Journal of Ophthalmology
|
January 31, 2015
High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2)
Cecilie Bredrup, Stefan Johansson, Laurence A Bindoff, et al.
European Journal of Human Genetics : EJHG
|
December 22, 2018
A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome
Cecilie Bredrup, Tomasz Stokowy, Julie McGaughran, et al.
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Search research articles
Search
Showing results (21-30 of 47) with videos related to
Sort By:
Page
of 5
Investigative Ophthalmology & Visual Science
|
July 8, 2026
Loss of ATRAID in Late-Onset, Non-Syndromic Retinitis Pigmentosa
Roya Mehrasa, Ragnhild Wivestad Jansson, Hanah Kurosawa, et al.
Orphanet Journal of Rare Diseases
|
January 5, 2013
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing
Kristoffer Haugarvoll, Stefan Johansson, Charalampos Tzoulis, et al.
American Journal of Medical Genetics. Part A
|
August 16, 2014
Ocular pterygium--digital keloid dysplasia
Hugo Abarca, Anne E Christensen Mellgren, Milana Trubnykova, et al.
Diabetes Care
|
June 12, 2008
Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations
Mette Vesterhus, Helge Raeder, Harald Aurlien, et al.
Cornea
|
March 4, 2024
Long-Term Follow-Up of Pediatric Excimer Laser-Assisted Penetrating Keratoplasty for Congenital Stromal Corneal Dystrophy
Tim Berger, Andrea Hasenfus, Cecilie Bredrup, et al.
Acta Ophthalmologica
|
October 25, 2016
The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level
Ingvild Aukrust, Ragnhild W Jansson, Cecilie Bredrup, et al.
Case Reports in Ophthalmology
|
October 9, 2025
Early-Onset Stargardt Disease Caused by Homozygosity of a Complex <i>ABCA4</i> Allele from Eastern Africa: Two Case Reports
Sigrid Aslaksen, Eirik Bratland, Mari Hamre Bu, et al.
Plos One
|
February 2, 2016
Role of Decorin Core Protein in Collagen Organisation in Congenital Stromal Corneal Dystrophy (CSCD)
Christina S Kamma-Lorger, Christian Pinali, Juan Carlos Martínez, et al.
American Journal of Ophthalmology
|
January 31, 2015
High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2)
Cecilie Bredrup, Stefan Johansson, Laurence A Bindoff, et al.
European Journal of Human Genetics : EJHG
|
December 22, 2018
A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome
Cecilie Bredrup, Tomasz Stokowy, Julie McGaughran, et al.
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