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Biorxiv : the Preprint Server for Biology
|
January 23, 2024
Plural molecular and cellular mechanisms of pore domain <i>KCNQ2</i> encephalopathy
Timothy J Abreo, Emma C Thompson, Anuraag Madabushi, et al.
Circulation. Genomic and Precision Medicine
|
August 28, 2019
Genetic Mosaicism in Calmodulinopathy
Lisa M Wren, Juan Jiménez-Jáimez, Saleh Al-Ghamdi, et al.
Circulation
|
November 14, 2007
Inherited arrhythmias: a National Heart, Lung, and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutations affecting ion channel function
Stephan E Lehnart, Michael J Ackerman, D Woodrow Benson, et al.
Circulation Research
|
June 7, 2021
Targeting the Microtubule EB1-CLASP2 Complex Modulates Na<sub>V</sub>1.5 at Intercalated Discs
Gerard A Marchal, Mariam Jouni, David Y Chiang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 2, 2026
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel
Lacey Smith, Emily Bonkowski, Anna Prentice, et al.
European Journal of Human Genetics : EJHG
|
December 14, 2023
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene
Eleni Panagiotakaki, Francesco D Tiziano, Mohamad A Mikati, et al.
Genome Medicine
|
January 16, 2024
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young
Megan J Puckelwartz, Lorenzo L Pesce, Edgar J Hernandez, et al.
Trends in Neurosciences
|
April 26, 2018
Progress in Understanding and Treating SCN2A-Mediated Disorders
Stephan J Sanders, Arthur J Campbell, Jeffrey R Cottrell, et al.
Genome Biology
|
September 15, 2017
Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy
Matthias Heinig, Michiel E Adriaens, Sebastian Schafer, et al.
Annals of Neurology
|
October 11, 2019
Spectrum of K<sub>V</sub> 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders
Seok Kyu Kang, Carlos G Vanoye, Sunita N Misra, et al.
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of 27
Search research articles
Search
Showing results (251-260 of 270) with videos related to
Sort By:
Page
of 27
Biorxiv : the Preprint Server for Biology
|
January 23, 2024
Plural molecular and cellular mechanisms of pore domain <i>KCNQ2</i> encephalopathy
Timothy J Abreo, Emma C Thompson, Anuraag Madabushi, et al.
Circulation. Genomic and Precision Medicine
|
August 28, 2019
Genetic Mosaicism in Calmodulinopathy
Lisa M Wren, Juan Jiménez-Jáimez, Saleh Al-Ghamdi, et al.
Circulation
|
November 14, 2007
Inherited arrhythmias: a National Heart, Lung, and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutations affecting ion channel function
Stephan E Lehnart, Michael J Ackerman, D Woodrow Benson, et al.
Circulation Research
|
June 7, 2021
Targeting the Microtubule EB1-CLASP2 Complex Modulates Na<sub>V</sub>1.5 at Intercalated Discs
Gerard A Marchal, Mariam Jouni, David Y Chiang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 2, 2026
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel
Lacey Smith, Emily Bonkowski, Anna Prentice, et al.
European Journal of Human Genetics : EJHG
|
December 14, 2023
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene
Eleni Panagiotakaki, Francesco D Tiziano, Mohamad A Mikati, et al.
Genome Medicine
|
January 16, 2024
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young
Megan J Puckelwartz, Lorenzo L Pesce, Edgar J Hernandez, et al.
Trends in Neurosciences
|
April 26, 2018
Progress in Understanding and Treating SCN2A-Mediated Disorders
Stephan J Sanders, Arthur J Campbell, Jeffrey R Cottrell, et al.
Genome Biology
|
September 15, 2017
Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy
Matthias Heinig, Michiel E Adriaens, Sebastian Schafer, et al.
Annals of Neurology
|
October 11, 2019
Spectrum of K<sub>V</sub> 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders
Seok Kyu Kang, Carlos G Vanoye, Sunita N Misra, et al.
Page
of 27