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Publications by Oya Uyguner
“Homozygous, and Compound Heterozygous Mutation in 3 Turkish Family With Jervell and Lange-Nielsen Syndrome: Case Reports”
BMC Medical Genetics
Genetics
Erratum: Mutations in Different Components of FGF Signaling in LADD Syndrome
Nature Genetics
Genetics
Related publications
Cellular Mechanisms of Mutations in Kv7.1: Auditory Functions in Jervell and Lange-Nielsen Syndrome vs. Romano–Ward Syndrome
Frontiers in Cellular Neuroscience
Molecular Neuroscience
Cellular
Partial Duplication and Poly(A) Insertion inKCNQ1Not Detected by Next-Generation Sequencing in Jervell and Lange–Nielsen Syndrome
Circulation: Arrhythmia and Electrophysiology
Medicine
Cardiovascular Medicine
Physiology
Cardiology
Surdocardiac Syndrome of Jervell and Lange-Nielsen, With Prolonged QT Interval Present at Birth, and Severe Anaemia and Syncopal Attacks in Childhood.
Heart
Cardiovascular Medicine
Cardiology
Recessive Cardiac Phenotypes in Induced Pluripotent Stem Cell Models of Jervell and Lange-Nielsen Syndrome: Disease Mechanisms and Pharmacological Rescue
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
The Jervell and Lange-Nielsen Syndrome; Atrial Pacing Combined With SS-Blocker Therapy, a Favorable Approach in Young High-Risk Patients With Long QT Syndrome?
Heart Rhythm
Cardiovascular Medicine
Physiology
Cardiology
Replacement of an Implantable Cardioverter-Defibrillator (ICD) With a New Standard Subcutaneous ICD System in a Patient With Jervell and Lange-Nielsen Syndrome
International Heart Journal
Medicine
Cardiovascular Medicine
Cardiology
Novel Compound Heterozygous TMEM67 Variants in a Vietnamese Family With Joubert Syndrome: A Case Report
BMC Medical Genetics
Genetics
A Novel Compound Heterozygous Stxbp2 Mutation in a Case With Familial Hemophagocytic Lymphohistiocytosis
Turkish Journal of Pediatric Disease
GNE Myopathy in Turkish Sisters With a Novel Homozygous Mutation
Case Reports in Neurological Medicine
