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Cecilie Bredrup

Showing results (31-40 of 47) with videos related to

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Investigative Ophthalmology & Visual Science|August 1, 2024
Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal DystrophiesSigrid Aslaksen, Ingvild Aukrust, Laurie Molday, et al.
FEBS Letters|February 13, 2023
A Pellino-2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium-digital keloid dysplasiaIleana Cristea, Hugo Abarca, Anne E Christensen Mellgren, et al.
Acta Ophthalmologica|December 1, 2020
Clinical features and molecular genetics of patients with ABCA4-retinal dystrophiesJosephine Prener Holtan, Ingvild Aukrust, Ragnhild Wivestad Jansson, et al.
Human Molecular Genetics|January 15, 2021
Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutionsCecilie Bredrup, Ileana Cristea, Leen Abu Safieh, et al.
American Journal of Human Genetics|November 20, 2018
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti SyndromeLinda Xu, Hanne Jensen, Jennifer J Johnston, et al.
Cornea|February 15, 2024
IC3D Classification of Corneal Dystrophies-Edition 3Jayne S Weiss, Christopher J Rapuano, Berthold Seitz, et al.
HGG Advances|May 1, 2026
Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunctionSofia Douzgou Houge, Cecilie Bredrup, Ragnhild Wivestad Jansson, et al.
Cornea|January 8, 2015
IC3D classification of corneal dystrophies--edition 2Jayne S Weiss, Hans Ulrik Møller, Anthony J Aldave, et al.
American Journal of Human Genetics|August 28, 2010
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolismTorunn Fiskerstrand, Dorra H'mida-Ben Brahim, Stefan Johansson, et al.
Cornea|April 2, 2009
The IC3D classification of the corneal dystrophiesJayne S Weiss, H U Møller, Walter Lisch, et al.
Pageof 5

Showing results (31-40 of 47) with videos related to

Sort By:
Pageof 5
Investigative Ophthalmology & Visual Science|August 1, 2024
Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal DystrophiesSigrid Aslaksen, Ingvild Aukrust, Laurie Molday, et al.
FEBS Letters|February 13, 2023
A Pellino-2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium-digital keloid dysplasiaIleana Cristea, Hugo Abarca, Anne E Christensen Mellgren, et al.
Acta Ophthalmologica|December 1, 2020
Clinical features and molecular genetics of patients with ABCA4-retinal dystrophiesJosephine Prener Holtan, Ingvild Aukrust, Ragnhild Wivestad Jansson, et al.
Human Molecular Genetics|January 15, 2021
Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutionsCecilie Bredrup, Ileana Cristea, Leen Abu Safieh, et al.
American Journal of Human Genetics|November 20, 2018
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti SyndromeLinda Xu, Hanne Jensen, Jennifer J Johnston, et al.
Cornea|February 15, 2024
IC3D Classification of Corneal Dystrophies-Edition 3Jayne S Weiss, Christopher J Rapuano, Berthold Seitz, et al.
HGG Advances|May 1, 2026
Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunctionSofia Douzgou Houge, Cecilie Bredrup, Ragnhild Wivestad Jansson, et al.
Cornea|January 8, 2015
IC3D classification of corneal dystrophies--edition 2Jayne S Weiss, Hans Ulrik Møller, Anthony J Aldave, et al.
American Journal of Human Genetics|August 28, 2010
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolismTorunn Fiskerstrand, Dorra H'mida-Ben Brahim, Stefan Johansson, et al.
Cornea|April 2, 2009
The IC3D classification of the corneal dystrophiesJayne S Weiss, H U Møller, Walter Lisch, et al.
Pageof 5