Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Daniela Macaya

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

2016

English

Related publications

“Homozygous, and Compound Heterozygous Mutation in 3 Turkish Family With Jervell and Lange-Nielsen Syndrome: Case Reports”

BMC Medical Genetics

Genetics

2017

English

Cellular Mechanisms of Mutations in Kv7.1: Auditory Functions in Jervell and Lange-Nielsen Syndrome vs. Romanoâ€“Ward Syndrome

Frontiers in Cellular Neuroscience

Molecular Neuroscience

Cellular

2015

English

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

2014

English

Clonal Immunoglobulin Λ Light-Chain Gene Rearrangements Detected by Next Generation Sequencing in POEMS Syndrome

American Journal of Hematology

Hematology

2018

English

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

2019

English

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

1975

English

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

2016

English

Frequencies of Chromosome-Specific Mosaicisms in Trophoectoderm Biopsies Detected by Next-Generation Sequencing

Fertility and Sterility

Gynecology

Reproductive Medicine

Obstetrics

2018

English

Mutations of Genes Including DNMT3A Detected by Next-Generation Sequencing in Thyroid Cancer

Cancer Biology and Therapy

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Daniela Macaya

Partial Duplication and Poly(A) Insertion inKCNQ1Not Detected by Next-Generation Sequencing in Jervell and Lange–Nielsen Syndrome

Related publications

“Homozygous, and Compound Heterozygous Mutation in 3 Turkish Family With Jervell and Lange-Nielsen Syndrome: Case Reports”

Cellular Mechanisms of Mutations in Kv7.1: Auditory Functions in Jervell and Lange-Nielsen Syndrome vs. Romanoâ€“Ward Syndrome

Recessive Cardiac Phenotypes in Induced Pluripotent Stem Cell Models of Jervell and Lange-Nielsen Syndrome: Disease Mechanisms and Pharmacological Rescue

Clonal Immunoglobulin Λ Light-Chain Gene Rearrangements Detected by Next Generation Sequencing in POEMS Syndrome

Replacement of an Implantable Cardioverter-Defibrillator (ICD) With a New Standard Subcutaneous ICD System in a Patient With Jervell and Lange-Nielsen Syndrome

Surdocardiac Syndrome of Jervell and Lange-Nielsen, With Prolonged QT Interval Present at Birth, and Severe Anaemia and Syncopal Attacks in Childhood.

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?

Frequencies of Chromosome-Specific Mosaicisms in Trophoectoderm Biopsies Detected by Next-Generation Sequencing

Mutations of Genes Including DNMT3A Detected by Next-Generation Sequencing in Thyroid Cancer