Minal J. Menezes
Sydney, NSW, Australia
Last Updated: 09/26/2026
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Found 17 publications
Generation of fibroblast-derived induced pluripotent stem cell (iPSC) lines from two paediatric patients with phenylketonuria.
Journal: Stem cell research
Published: February 29, 2024
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Journal: Brain : a journal of neurology
Published: August 26, 2022
Intravenous Tranexamic Acid is Associated With a Clinically Significant Reduction in Blood Loss in Craniosynostosis Surgery.
Journal: The Journal of craniofacial surgery
Published: October 05, 2021
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.
Journal: Molecular genetics and metabolism
Published: August 10, 2021
Synthesizing Multiple Stakeholder Perspectives on Using Virtual Reality to Improve the Periprocedural Experience in Children and Adolescents: Survey Study.
Journal: Journal of medical Internet research
Published: April 30, 2020
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 23, 2020
Mutations in the exocyst component EXOC2 cause severe defects in human brain development.
Journal: The Journal of experimental medicine
Published: October 29, 2019
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.
Journal: Molecular genetics and metabolism
Published: October 21, 2019
Learner and educator experiences and priorities in paediatric airway education: A qualitative study.
Learner and educator experiences and priorities in paediatric airway education: A qualitative study.
Journal: Anaesthesia and intensive care
Published: June 07, 2019
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.
Journal: Molecular genetics and metabolism
Published: November 05, 2018
Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing.
Journal: Molecular genetics and metabolism
Published: October 03, 2017
Last Updated: 09/26/2026