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Publications by Fahrettin Uysal
“Homozygous, and Compound Heterozygous Mutation in 3 Turkish Family With Jervell and Lange-Nielsen Syndrome: Case Reports”
BMC Medical Genetics
Genetics
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Cellular Mechanisms of Mutations in Kv7.1: Auditory Functions in Jervell and Lange-Nielsen Syndrome vs. Romano–Ward Syndrome
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Partial Duplication and Poly(A) Insertion inKCNQ1Not Detected by Next-Generation Sequencing in Jervell and Lange–Nielsen Syndrome
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Surdocardiac Syndrome of Jervell and Lange-Nielsen, With Prolonged QT Interval Present at Birth, and Severe Anaemia and Syncopal Attacks in Childhood.
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Recessive Cardiac Phenotypes in Induced Pluripotent Stem Cell Models of Jervell and Lange-Nielsen Syndrome: Disease Mechanisms and Pharmacological Rescue
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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?
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Replacement of an Implantable Cardioverter-Defibrillator (ICD) With a New Standard Subcutaneous ICD System in a Patient With Jervell and Lange-Nielsen Syndrome
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Novel Compound Heterozygous TMEM67 Variants in a Vietnamese Family With Joubert Syndrome: A Case Report
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A Novel Compound Heterozygous Stxbp2 Mutation in a Case With Familial Hemophagocytic Lymphohistiocytosis
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GNE Myopathy in Turkish Sisters With a Novel Homozygous Mutation
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