Paldeep Atwal

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University of Glasgow

United Kingdom

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Recent Grants

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Metabolomic Profiling For Inborn Errors of Metabolism & Undifferentiated Genetics Phenotypes

Open Date: 2014-01-01

Close Date: 2015-01-01

Articles (10)

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2022

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2022

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2021

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2021

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2021

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2021

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2020

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2020

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2020

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2020

Collaborators (2)

Leslie T Cooper

UNITED STATES

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Thomas Caulfield

Professor

Mayo Clinic Research Florida

UNITED STATES

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Paldeep Atwal

Research Interests

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Contact this professor

Recent Grants

Articles (10)

A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features

Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of <b><i>GALNS</i></b> with Resultant Morquio Syndrome with Two Successful Pregnancies

Sex Differences, Genetic and Environmental Influences on Dilated Cardiomyopathy

Clinical description & molecular modeling of novel MAX pathogenic variant causing pheochromocytoma in family, supports paternal parent-of-origin effect

Poirier–Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth

Importance of Family History in the Era of Exome Analysis: A Report of a Family with Multiple Concurrent Genetic Diseases

Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain

Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction

The infantile neuroaxonal dystrophy rating scale (INAD-RS)

Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling

Collaborators (2)

Leslie T Cooper

Thomas Caulfield

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