Deborah JG Mackay

University of Southampton

United Kingdom

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Articles (7)

Year:

2024

Year:

2024

Year:

2024

Year:

2023

Year:

2022

Year:

2022

Year:

2022

Collaborators (4)

Hazel Inskip

University of Southampton

UNITED KINGDOM

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I. Karen Temple

UNITED KINGDOM

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Christopher D Byrne

University of Southampton

UNITED KINGDOM

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Justin Davies

Professor of Paediatric Endocrinology

University of Southampton

UNITED KINGDOM

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Deborah JG Mackay

Research Interests

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Articles (7)

Body Composition and Metabolism in Adults With Molecularly Confirmed Silver-Russell Syndrome

A case of mosaic deletion of paternally‐inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under‐expression as a cause of growth restriction

Clinical Characteristics and Remission Monitoring of 6q24‐Related Transient Neonatal Diabetes

AND THE WORDS BECOME FLESH: EXPLORING A BIOLOGICAL METAPHOR FOR THE BODY OF CHRIST

A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith‐Wiedemann and Temple syndromes

Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study

Ongoing Challenges in the Diagnosis of 11p15.5-Associated Imprinting Disorders

Collaborators (4)

Hazel Inskip

I. Karen Temple

Christopher D Byrne

Justin Davies

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