Sage Journals: Discover world-class research

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Case report

First published 2014-9

Homozygous c.1937+1G>A Splice-Site Variant of the ABCA4 gene is Associated with Stargardt Disease

Chiara M. Eandi, Federico M. Grignolo, Ilaria Passerini [...]

European Journal of Ophthalmology

Open access

Research article

First published 2023-09-08

Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report

Katarina Pelin, Lydia Sagath, Johanna Lehtonen [...]

Journal of Neuromuscular Diseases

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Case report

First published 2026-3

Developmental Epileptic Encephalopathy in a Pediatric Patient: Insights from a Novel SULT4A1 Variant and Genetic Challenges

Mohammad Bdair, Orabi Hajjeh, Muhammad Takhman [...]

Journal of Child Neurology

Free access

Case report

First published 2011-1

Effect of a splice site mutation in LDLR gene and two variations in PCSK9 gene in Tunisian families with familial hypercholesterolaemia

A Jelassi, A Slimani, I Jguirim [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

Open access

Research article

First published 2022-10

Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase Gene

Ainhoa Martínez-Pizarro, Fátima Leal, Lise Lolle Holm [...]

Nucleic Acid Therapeutics

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Research article

First published 2018-2-20

Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer’s Disease Patient

Kilan Le Guennec, Hélène Tubeuf, Didier Hannequin [...]

Journal of Alzheimer’s Disease

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Research article

First published 1998-01

Synthesis of Turkey Pit-1 mRNA Variants by Alternative Splicing and Transcription Initiation

Kiyoto Kurima, Kristy L. Weatherly, Ludmila Sharova [...]

DNA and Cell Biology

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Review article

First published 2009-03

Therapeutic Potential of Splice-Switching Oligonucleotides

John Bauman, Natee Jearawiriyapaisarn, Ryszard Kole

Nucleic Acid Therapeutics

Free access

Case report

First published 2018-11

Characterization of a rare variant (c.2635-2A>G) of the MSH2 gene in a family with Lynch syndrome

Filomena Cariola, Vittoria Disciglio, Anna M. Valentini [...]

The International Journal of Biological Markers

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Research article

First published 2006-06

Analysis of Prostate-Specific Membrane Antigen Splice Variants in LNCap Cells

Tiffany Williams, Ryszard Kole

Nucleic Acid Therapeutics

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