Joanna Kenny

University College London

United Kingdom

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Articles (7)

Year:

2023

Year:

2023

Year:

2022

Year:

2021

Year:

2021

Year:

2020

Year:

2020

Collaborators (6)

Sarah J. Tabrizi

UNITED KINGDOM

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Miranda Durkie

Deputy head of rare disease

UNITED KINGDOM

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Albert C. M. Ong

University of Sheffield Medical School

UNITED KINGDOM

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Marçal Vilar

SPAIN

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Jonathan Schott

UCL Institute of Neurology, University College London

UNITED KINGDOM

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Simon Mead

UNITED KINGDOM

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Joanna Kenny

Research Interests

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Articles (7)

Beyond genetics: Deciphering the impact of missense variants in CAD deficiency

The Common PKD1 p.(Ile3167Phe) Variant Is Hypomorphic and Associated with Very Early Onset, Biallelic Polycystic Kidney Disease

Fontaine progeroid syndrome—A case report

A report on the impact of rapid prenatal exome sequencing on the clinical management of 52 ongoing pregnancies: a retrospective review

Genetic testing in dementia — utility and clinical strategies

Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series

Ethical Issues in Genetic Testing for Inherited Cancer Predisposition Syndromes: the Potentially Conflicting Interests of Patients and Their Relatives

Collaborators (6)

Sarah J. Tabrizi

Miranda Durkie

Albert C. M. Ong

Marçal Vilar

Jonathan Schott

Simon Mead

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