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June 15, 2019
Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic <i>ABCA4</i> Variant c.4539+2001G>A in Stargardt Disease
Alejandro Garanto, Lonneke Duijkers, Tomasz Z Tomkiewicz, et al.
Methods in Molecular Biology (Clifton, N.J.)
|
February 25, 2022
Development and Use of Cellular Systems to Assess and Correct Splicing Defects
Nuria Suárez-Herrera, Tomasz Z Tomkiewicz, Alejandro Garanto, et al.
Progress in Retinal and Eye Research
|
April 13, 2020
Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations
Frans P M Cremers, Winston Lee, Rob W J Collin, et al.
Journal of Neurochemistry
|
August 12, 2005
Biosynthesis and differential processing of two pools of amyloid-beta precursor protein in a physiologically inducible neuroendocrine cell
Rob W J Collin, Wilhelmina H van den Hurk, Gerard J M Martens
Stem Cell Research
|
July 22, 2023
Generation of three isogenic control lines from patient-derived iPSCs carrying bi-allelic ABCA4 variants underlying Stargardt disease
Dyah W Karjosukarso, Femke Bukkems, Lonneke Duijkers, et al.
Nucleic Acid Therapeutics
|
August 25, 2025
Context Matters: The Importance of a Comprehensive Genomic Region When Assessing the Therapeutic Potential of Antisense Oligonucleotides in Splicing Assays
Dyah W Karjosukarso, Julia F Kiefmann, Femke Bukkems, et al.
Methods in Molecular Biology (Clifton, N.J.)
|
November 15, 2012
Identification and analysis of inherited retinal disease genes
Kornelia Neveling, Anneke I den Hollander, Frans P M Cremers, et al.
Oncotarget
|
February 22, 2020
Correction: P-cadherin mutations are associated with high basal Wnt activity and stemness in canine mammary tumor cell lines
Elpetra Timmermans-Sprang, Rob W J Collin, Arjen Henkes, et al.
Human Molecular Genetics
|
August 9, 2023
Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing
Melita Kaltak, Zelia Corradi, Rob W J Collin, et al.
European Journal of Human Genetics : EJHG
|
September 6, 2018
Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly
Dyah W Karjosukarso, Frans P M Cremers, C Erik van Nouhuys, et al.
Page
of 15
Search research articles
Search
Showing results (11-20 of 149) with videos related to
Sort By:
Page
of 15
Genes
|
June 15, 2019
Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic <i>ABCA4</i> Variant c.4539+2001G>A in Stargardt Disease
Alejandro Garanto, Lonneke Duijkers, Tomasz Z Tomkiewicz, et al.
Methods in Molecular Biology (Clifton, N.J.)
|
February 25, 2022
Development and Use of Cellular Systems to Assess and Correct Splicing Defects
Nuria Suárez-Herrera, Tomasz Z Tomkiewicz, Alejandro Garanto, et al.
Progress in Retinal and Eye Research
|
April 13, 2020
Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations
Frans P M Cremers, Winston Lee, Rob W J Collin, et al.
Journal of Neurochemistry
|
August 12, 2005
Biosynthesis and differential processing of two pools of amyloid-beta precursor protein in a physiologically inducible neuroendocrine cell
Rob W J Collin, Wilhelmina H van den Hurk, Gerard J M Martens
Stem Cell Research
|
July 22, 2023
Generation of three isogenic control lines from patient-derived iPSCs carrying bi-allelic ABCA4 variants underlying Stargardt disease
Dyah W Karjosukarso, Femke Bukkems, Lonneke Duijkers, et al.
Nucleic Acid Therapeutics
|
August 25, 2025
Context Matters: The Importance of a Comprehensive Genomic Region When Assessing the Therapeutic Potential of Antisense Oligonucleotides in Splicing Assays
Dyah W Karjosukarso, Julia F Kiefmann, Femke Bukkems, et al.
Methods in Molecular Biology (Clifton, N.J.)
|
November 15, 2012
Identification and analysis of inherited retinal disease genes
Kornelia Neveling, Anneke I den Hollander, Frans P M Cremers, et al.
Oncotarget
|
February 22, 2020
Correction: P-cadherin mutations are associated with high basal Wnt activity and stemness in canine mammary tumor cell lines
Elpetra Timmermans-Sprang, Rob W J Collin, Arjen Henkes, et al.
Human Molecular Genetics
|
August 9, 2023
Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing
Melita Kaltak, Zelia Corradi, Rob W J Collin, et al.
European Journal of Human Genetics : EJHG
|
September 6, 2018
Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly
Dyah W Karjosukarso, Frans P M Cremers, C Erik van Nouhuys, et al.
Page
of 15