Jacqui W. Russell

Sydney, NSW, Australia

Last Updated: 09/26/2026

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Found 18 publications

Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin-Treated Patients With Early-Onset Cobalamin C Disease.

Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin-Treated Patients With Early-Onset Cobalamin C Disease.

Journal: JIMD reports

Published: August 25, 2025

Gestational Age at Birth and Clinical Manifestations of Spinal Muscular Atrophy.

Gestational Age at Birth and Clinical Manifestations of Spinal Muscular Atrophy.

Journal: Neurology

Published: June 27, 2025

An Explorative Qualitative Study of the Role of a Genetic Counsellor to Parents Receiving a Diagnosis After a Positive Newborn Bloodspot Screening.

An Explorative Qualitative Study of the Role of a Genetic Counsellor to Parents Receiving a Diagnosis After a Positive Newborn Bloodspot Screening.

Journal: International journal of neonatal screening

Published: March 01, 2025

Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales.

Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales.

Journal: JIMD reports

Published: June 14, 2023

Rapid whole-genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease.

Rapid whole-genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease.

Journal: Pediatric blood & cancer

Published: April 02, 2023

Implications of the composite free flap harvest site on quality of life after head and neck surgery: a prospective series.

Implications of the composite free flap harvest site on quality of life after head and neck surgery: a prospective series.

Journal: International journal of oral and maxillofacial surgery

Published: November 12, 2022

Incidence of Duchenne muscular dystrophy in the modern era; an Australian study.

Incidence of Duchenne muscular dystrophy in the modern era; an Australian study.

Journal: European journal of human genetics : EJHG

Published: February 17, 2022

Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.

Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 24, 2021

An assessment of the current status of children's toothpaste in Australia.

An assessment of the current status of children's toothpaste in Australia.

Journal: Australian dental journal

Published: May 10, 2021

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.

Journal: Internal medicine journal

Published: April 13, 2021

Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.

Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 21, 2020

Donor site morbidity of composite free flaps in head and neck surgery: a systematic review of the prospective literature.

Donor site morbidity of composite free flaps in head and neck surgery: a systematic review of the prospective literature.

Journal: International journal of oral and maxillofacial surgery

Published: June 14, 2020

Showing 1-12 of 18

Last Updated: 09/26/2026