Pak L. Cheong

Sydney, NSW, Australia

Last Updated: 09/26/2026

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Found 30 publications

Implementation and Outcomes of a Structured Epistaxis Protocol in Hereditary Hemorrhagic Telangiectasia: An Observational Cohort Study from a Multidisciplinary Clinic.

Implementation and Outcomes of a Structured Epistaxis Protocol in Hereditary Hemorrhagic Telangiectasia: An Observational Cohort Study from a Multidisciplinary Clinic.

Journal: American journal of rhinology & allergy

Published: June 26, 2026

Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies.

Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies.

Journal: Nature communications

Published: November 17, 2025

Advancing Global Nursing Policy: AI-Driven Health Literacy Innovations for Migrant Domestic Workers.

Advancing Global Nursing Policy: AI-Driven Health Literacy Innovations for Migrant Domestic Workers.

Journal: International nursing review

Published: July 14, 2025

Two Cases of 46,XY Differences of Sex Development Due to Gonadal Dysgenesis Associated With Novel NR5A1 Variants.

Two Cases of 46,XY Differences of Sex Development Due to Gonadal Dysgenesis Associated With Novel NR5A1 Variants.

Journal: JCEM case reports

Published: May 28, 2025

Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.

Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.

Journal: Annals of clinical and translational neurology

Published: December 26, 2024

Identification of new candidate drugs in myelodysplastic syndromes with splicing factor mutations by transcriptional profiling and connectivity map analysis.

Identification of new candidate drugs in myelodysplastic syndromes with splicing factor mutations by transcriptional profiling and connectivity map analysis.

Journal: British journal of haematology

Published: November 26, 2024

Long-read sequencing for diagnosis of genetic myopathies.

Long-read sequencing for diagnosis of genetic myopathies.

Journal: BMJ neurology open

Published: November 25, 2024

Prevalence and comparing network structure of depressive and anxiety symptoms among different chronotypes of the general adult population: A national survey in China.

Prevalence and comparing network structure of depressive and anxiety symptoms among different chronotypes of the general adult population: A national survey in China.

Journal: Journal of affective disorders

Published: November 14, 2024

Newborn Genomic Sequencing Needs Confirmation but Not Repeating.

Newborn Genomic Sequencing Needs Confirmation but Not Repeating.

Journal: Children (Basel, Switzerland)

Published: August 26, 2024

An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia.

An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia.

Journal: Movement disorders clinical practice

Published: November 14, 2023

Germline potential should not be overlooked for cancer variants identified in tumour-only somatic mutation testing.

Germline potential should not be overlooked for cancer variants identified in tumour-only somatic mutation testing.

Journal: Pathology

Published: November 09, 2023

Two Novel Variants in PI4KA in a Family Presenting With Hereditary Spastic Paraparesis: A Case Report.

Two Novel Variants in PI4KA in a Family Presenting With Hereditary Spastic Paraparesis: A Case Report.

Journal: Neurology. Genetics

Published: November 08, 2023

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Last Updated: 09/26/2026