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Enhanced Spine Stability and Survival Lead to Increases in Dendritic Spine Density as an Early Response to Local Alpha-Synuclein Overexpression in Mouse Prefrontal Cortex

Cellular and molecular neurobiology, 2024-12, Vol.44 (1), p.42-42, Article 42

2024

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In step with the hills (Book Review)

The Spectator, 1996, Vol.276 (8755), p.45

Bagnall, Emma

1996

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Concealed Cardiomyopathy in Autopsy-Inconclusive Cases of Sudden Cardiac Death and Implications for Families

Journal of the American College of Cardiology, 2022-11, Vol.80 (22), p.2057-2068

2022

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Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in MYBPC3

Circulation. Genomic and precision medicine, 2021-04, Vol.14 (2), p.e003202-e003202

2021

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Genetic architecture of left ventricular noncompaction in adults

Human genome variation, 2020-10, Vol.7 (1), p.33-33, Article 33

2020

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Generation of an induced pluripotent stem cell line from a patient with conduction disease and recurrent ventricular fibrillation with a sodium voltage-gated channel alpha subunit 5 (SCN5A) gene c.392 + 3A > G splice-site variant

Stem cell research, 2023-09, Vol.71, p.103153-103153, Article 103153

2023

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Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death

Genetics in medicine, 2021-01, Vol.23 (1), p.86-93

2021

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The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic

Genome medicine, 2022-12, Vol.14 (1), p.145-145, Article 145

2022

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Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy

Circulation. Genomic and precision medicine, 2019-01, Vol.12 (1), p.e002368-e002368

2019

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Splicing Functional Assays Into the Genetic Testing Pipeline

Circulation. Genomic and precision medicine, 2022-12, Vol.15 (6), p.e003949-e003949

2022

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'It's Scary Starting a New School': Children and Young People's Perspectives on Wellbeing Support during Educational Transitions

British journal of educational psychology, 2023-12, Vol.93 (4), p.1017-1033

2023

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The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death

Npj genomic medicine, 2023-10, Vol.8 (1), p.29-29, Article 29

2023

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Use of a digital delirium pathway and quality improvement to improve delirium detection in the emergency department and outcomes in an acute hospital

Age and ageing, 2020-07, Vol.49 (4), p.672-678

2020

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Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative CALM1-3 Variants Detected in a Multicenter Molecular Autopsy Cohort of Sudden Unexplained Death Victims

Circulation. Genomic and precision medicine, 2020-12, Vol.13 (6), p.e003032-e003032

2020

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Triadin Knockout Syndrome Is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and Is Extremely Rare in the General Population

Circulation. Genomic and precision medicine, 2020-04, Vol.13 (2), p.e002731-e002731

2020

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Genetic architecture of left ventricular noncompaction in adults

Human genome variation, 2020-10, Vol.7 (1), p.33

2020

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Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative CALM1-3 Variants Detected in a Multi-Center Molecular Autopsy Cohort of Sudden Unexplained Death Victims

Circulation. Genomic and precision medicine, 2020-11, Vol.13 (6), p.e003032-e003032

2020

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Angiographic and Procedural Characteristics in Frail Older Patients with Non-ST Elevation Acute Coronary Syndrome

Interventional cardiology (London), 2023-01, Vol.18

2023

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Alcohol Education Initiatives in Scotland-a current perspective

Drugs : education, prevention & policy, 1996, Vol.3 (3), p.249-265

1996

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Enhanced Spine Stability and Survival Lead to Increases in Dendritic Spine Density as an Early Response to Local Alpha-Synuclein Overexpression in Mouse Prefrontal Cortex

In step with the hills (Book Review)

Concealed Cardiomyopathy in Autopsy-Inconclusive Cases of Sudden Cardiac Death and Implications for Families

Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in MYBPC3

Genetic architecture of left ventricular noncompaction in adults

Generation of an induced pluripotent stem cell line from a patient with conduction disease and recurrent ventricular fibrillation with a sodium voltage-gated channel alpha subunit 5 (SCN5A) gene c.392 + 3A > G splice-site variant

Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death

The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic

Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy

Splicing Functional Assays Into the Genetic Testing Pipeline

'It's Scary Starting a New School': Children and Young People's Perspectives on Wellbeing Support during Educational Transitions

The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death

Use of a digital delirium pathway and quality improvement to improve delirium detection in the emergency department and outcomes in an acute hospital

P150: ClinGen hereditary cardiovascular disease gene curation expert panel: reappraisal of the validity of hypertrophic cardiomyopathy genes

Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative CALM1-3 Variants Detected in a Multicenter Molecular Autopsy Cohort of Sudden Unexplained Death Victims

Triadin Knockout Syndrome Is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and Is Extremely Rare in the General Population

Genetic architecture of left ventricular noncompaction in adults

Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative CALM1-3 Variants Detected in a Multi-Center Molecular Autopsy Cohort of Sudden Unexplained Death Victims

Angiographic and Procedural Characteristics in Frail Older Patients with Non-ST Elevation Acute Coronary Syndrome

Alcohol Education Initiatives in Scotland-a current perspective

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