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Aizeddin Mhanni

Professor

University of Manitoba

Canada

Research Interests

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Professors in Canada Professors in Medical Science Medical Science professors in Canada

Articles (8)

Year:

2025

Year:

2025

Year:

2025

Year:

2025

Year:

2024

Year:

2024

Year:

2023

Year:

2023

Collaborators (3)

Cheryl Rockman-Greenberg

Medical/Metabolic Geneticist

Shared Health Manitoba

CANADA

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Neal Sondheimer

Medical Director

Children's Hospital of Eastern Ontario

CANADA

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Janine Johnston

Professor

University of Manitoba

CANADA

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Aizeddin Mhanni

Research Interests

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Articles (8)

Cognitive decline in an adult with ATR-16 syndrome due to an unbalanced translocation between 11p15.5 and 16p13.3: a case report

Correspondence on "Mainstreaming of clinical genetic testing: a conceptual framework" by Mackley et al

Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study

Two rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndrome

Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement

A novel <i>WFS1</i> variant associated with isolated congenital cataracts.

Development of a core outcome set for mucopolysaccharidoses (MPS) in children: Results from Delphi surveys and a consensus workshop

Collaborators (3)

Cheryl Rockman-Greenberg

Neal Sondheimer

Janine Johnston

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