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Scientific Reports|April 9, 2021
EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern SwedenIda Maria Westin, Frida Jonsson, Lennart Österman, et al.
Gene|May 18, 2004
Characterization and tissue-specific expression of human LRIG2Camilla Holmlund, Jonas Nilsson, Dongsheng Guo, et al.
Acta Ophthalmologica|February 21, 2018
ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicingFrida Jonsson, Ida Maria Westin, Lennart Österman, et al.
Journal of Neuro-Oncology|February 4, 2016
Genetic risk variants in the CDKN2A/B, RTEL1 and EGFR genes are associated with somatic biomarkers in gliomaSoma Ghasimi, Carl Wibom, Anna M Dahlin, et al.
European Journal of Human Genetics : EJHG|March 23, 2007
Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish familiesLinda Köhn, Konstantin Kadzhaev, Marie S I Burstedt, et al.
Investigative Ophthalmology & Visual Science|March 18, 2008
Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1Linda Köhn, Marie S I Burstedt, Frida Jonsson, et al.
Cellular and Molecular Life Sciences : CMLS|February 11, 2023
DNA methylation changes and increased mRNA expression of coagulation proteins, factor V and thrombomodulin in Fuchs endothelial corneal dystrophyIda Maria Westin, Mattias Landfors, Antonios Giannopoulos, et al.
Acta Oncologica (Stockholm, Sweden)|September 14, 2007
LRIG1 expression in colorectal cancerIngrid Ljuslinder, Irina Golovleva, Richard Palmqvist, et al.
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