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S Cornelis

Showing results (41-50 of 47) with videos related to

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Investigative Ophthalmology & Visual Science|October 17, 2019
Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 AllelesEsmee H Runhart, Dyon Valkenburg, Stéphanie S Cornelis, et al.
Human Mutation|June 19, 2019
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt diseaseMubeen Khan, Stéphanie S Cornelis, Muhammad Imran Khan, et al.
Journal of Inflammation|January 1, 1995
TNF-induced intracellular signaling leading to gene induction or to cytotoxicity by necrosis or by apoptosisW Fiers, R Beyaert, E Boone, et al.
JAMA Ophthalmology|April 11, 2024
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-AnalysisStéphanie S Cornelis, Joanna IntHout, Esmee H Runhart, et al.
Investigative Ophthalmology & Visual Science|July 5, 2018
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe VariantsEsmee H Runhart, Riccardo Sangermano, Stéphanie S Cornelis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 16, 2019
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotidesRiccardo Sangermano, Alejandro Garanto, Mubeen Khan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 21, 2020
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomicsMubeen Khan, Stéphanie S Cornelis, Marta Del Pozo-Valero, et al.
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Showing results (41-50 of 47) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 47 results.
Investigative Ophthalmology & Visual Science|October 17, 2019
Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 AllelesEsmee H Runhart, Dyon Valkenburg, Stéphanie S Cornelis, et al.
Human Mutation|June 19, 2019
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt diseaseMubeen Khan, Stéphanie S Cornelis, Muhammad Imran Khan, et al.
Journal of Inflammation|January 1, 1995
TNF-induced intracellular signaling leading to gene induction or to cytotoxicity by necrosis or by apoptosisW Fiers, R Beyaert, E Boone, et al.
JAMA Ophthalmology|April 11, 2024
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-AnalysisStéphanie S Cornelis, Joanna IntHout, Esmee H Runhart, et al.
Investigative Ophthalmology & Visual Science|July 5, 2018
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe VariantsEsmee H Runhart, Riccardo Sangermano, Stéphanie S Cornelis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 16, 2019
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotidesRiccardo Sangermano, Alejandro Garanto, Mubeen Khan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 21, 2020
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomicsMubeen Khan, Stéphanie S Cornelis, Marta Del Pozo-Valero, et al.
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