1,050 results on '"Tester, David J"'
Search Results
52. SARS-CoV-2 spike protein-mediated cardiomyocyte fusion may contribute to increased arrhythmic risk in COVID-19
53. Elucidation of ALG10B as a Novel Long-QT Syndrome–Susceptibility Gene
54. Multi-Omic Architecture of Obstructive Hypertrophic Cardiomyopathy
55. Sudden infant death syndrome and inherited cardiac conditions
56. Cardiac Channelopathies and the Molecular Autopsy
57. Novel Timothy syndrome mutation leading to increase in CACNA1C window current
58. Cardiac Channelopathies and Sudden Infant Death Syndrome
59. Genetic Testing
60. Congenital Long QT Syndrome
61. Injectable Contraceptive, Depo-Provera, Produces Erratic Beating Patterns in Patient-Specific Induced Pluripotent Stem Cell-derived Cardiomyocytes with Type 2 Long QT Syndrome
62. Role of Genetic Testing for Sudden Death Predisposing Heart Conditions in Athletes
63. Curcumin, a dietary natural supplement, prolongs the action potential duration of KCNE1-D85N–induced pluripotent stem cell–derived cardiomyocytes
64. Suppression and Replacement Gene Therapy for KCNH2 -Mediated Arrhythmias
65. Loss-of-Function of the Voltage-Gated Sodium Channel NaV1.5 (Channelopathies) in Patients With Irritable Bowel Syndrome
66. Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series
67. Functional Invalidation of Putative Sudden Infant Death Syndrome–Associated Variants in the KCNH2-Encoded Kv11.1 Channel
68. Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation
69. Congenital Long QT Syndrome
70. Genetic Testing
71. Acacetin, a Potent Transient Outward Current Blocker, May Be a Novel Therapeutic for KCND3 -Encoded Kv4.3 Gain-of-Function-Associated J-Wave Syndromes
72. Personalized Medicine: Genetic Diagnosis for Inherited Cardiomyopathies/Channelopathies
73. Medicina personalizada: diagnóstico genético de cardiopatías/canalopatías hereditarias
74. Abstract 19352: Utilizing the Genome Aggregation Database, in silico Tools, and Patch Clamp Heterologous Expression Studies to Demote Previously Published Type 1 Long QT Syndrome Mutations From Pathogenic to Benign
75. Abstract 16767: Re-Engineered Heart Cells From a Patient With R58Q-MYL2 Shows Increased Heart Rate, Cellular Hypertrophy, and Reduced L-Type Calcium Currents
76. Abstract 15885: A Novel Pore Region CACNA1C Missense Mutation Identified in a Patient With Ventricular Tachyarrhythmia Results in L-type Calcium Channel Selectivity Alteration
77. Abstract 14872: Utility of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Variants of Uncertain Significance
78. Abstract 14550: LQT5-Lite: Defining the Clinical Phenotype Associated With the Potentially Pro-Arrhythmic KCNE1-D85N Common Variant
79. Genomic Triangulation and Coverage Analysis in Whole-Exome Sequencing–Based Molecular Autopsies
80. Whole genome sequencing identifies etiology of recurrent male intrauterine fetal death
81. Congenital myopathy associated with the triadin knockout syndrome
82. Whole exome sequencing with genomic triangulation implicates CDH2‐encoded N‐cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy
83. Repeat long QT syndrome genetic testing of phenotype-positive cases: Prevalence and etiology of detection misses
84. Post-mortem Whole Exome Sequencing with Gene-Specific Analysis for Autopsy-Negative Sudden Unexplained Death in the Young: A Case Series
85. Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel
86. Cardiac Channel Molecular Autopsy: Insights From 173 Consecutive Cases of Autopsy-Negative Sudden Unexplained Death Referred for Postmortem Genetic Testing
87. A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Nav1.5 and Kv4.3 channel currents
88. PO-705-07 A NOVEL RYR2 CHANNEL STABILIZER EFFECTIVELY RESCUES CALCIUM HANDLING KINETICS ASSOCIATED WITH CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA IN PATIENT-SPECIFIC INDUCED PLURIPOTENT STEM CELL-DERIVED CARDIOMYOCYTES
89. PO-629-02 NEW EVIDENCE TO CHALLENGE CLINGEN'S “DISPUTED EVIDENCE” DESIGNATION FOR AKAP9 AS A BONA FIDE SUSCEPTIBILITY GENE FOR CONGENITAL LONG QT SYNDROME
90. Long QT Syndrome
91. 63 - Genetics of Cardiac Arrhythmias
92. Syntrophin Mutation Associated with Long QT Syndrome through Activation of the nNOS-SCN5A Macromolecular Complex
93. Transient outward current (I to) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome
94. Unexplained Drownings and the Cardiac Channelopathies: A Molecular Autopsy Series
95. Mutation of an A-Kinase-Anchoring Protein Causes Long-QT Syndrome
96. Red herring pathogenic variants: a case report of premature ventricular contraction-triggered ventricular fibrillation with an incidental pathogenic LMNA variant
97. Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac Death
98. A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome
99. Association of common variants in NOS1AP gene with sudden unexplained nocturnal death syndrome in the southern Chinese Han population
100. Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K ATP channel Kir6.1 as a pathogenic substrate for J-wave syndromes
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