Izelle Smuts

Bridging gaps in mitochondrial disease diagnosis: the role of advanced biomarker discovery.

Journal: Journal of molecular medicine (Berlin, Germany)

Published: September 02, 2025

An epigenetic perspective on neonatal encephalopathy with suspected hypoxic ischaemic encephalopathy.

Journal: Clinical epigenetics

Published: November 14, 2024

Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort.

Journal: European journal of human genetics : EJHG

Published: October 16, 2024

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations.

Journal: Annals of clinical and translational neurology

Published: May 22, 2024

Response to 'Commentary on the published position statement regarding the pathogenesis of fetal basal ganglia- thalamic hypoxic-ischaemic injury' (Anthony et al.).

Journal: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde

Published: December 31, 2023

Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.

Journal: Orphanet journal of rare diseases

Published: July 07, 2023

Neuromuscular disease genetics in under-represented populations: increasing data diversity.

Journal: Brain : a journal of neurology

Published: May 22, 2023

Clinical practice.

Journal: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde

Published: May 10, 2023

Cerebral palsy and its medicolegal implications in low- resource settings - the need to establish causality and revise criteria to implicate intrapartum hypoxia: A narrative review.

Journal: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde

Published: October 02, 2022

A case for genomic medicine in South African paediatric patients with neuromuscular disease.

Journal: Frontiers in pediatrics

Published: August 31, 2022

Right of Reply.

Journal: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde

Bridging gaps in mitochondrial disease diagnosis: the role of advanced biomarker discovery.

Bridging gaps in mitochondrial disease diagnosis: the role of advanced biomarker discovery.

An epigenetic perspective on neonatal encephalopathy with suspected hypoxic ischaemic encephalopathy.

An epigenetic perspective on neonatal encephalopathy with suspected hypoxic ischaemic encephalopathy.

Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort.

Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort.

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations.

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations.

Response to 'Commentary on the published position statement regarding the pathogenesis of fetal basal ganglia- thalamic hypoxic-ischaemic injury' (Anthony et al.).

Response to 'Commentary on the published position statement regarding the pathogenesis of fetal basal ganglia- thalamic hypoxic-ischaemic injury' (Anthony et al.).

Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.

Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.

Neuromuscular disease genetics in under-represented populations: increasing data diversity.

Neuromuscular disease genetics in under-represented populations: increasing data diversity.

Clinical practice.

Clinical practice.

Cerebral palsy and its medicolegal implications in low- resource settings - the need to establish causality and revise criteria to implicate intrapartum hypoxia: A narrative review.

Cerebral palsy and its medicolegal implications in low- resource settings - the need to establish causality and revise criteria to implicate intrapartum hypoxia: A narrative review.

A case for genomic medicine in South African paediatric patients with neuromuscular disease.

A case for genomic medicine in South African paediatric patients with neuromuscular disease.

Right of Reply.

Right of Reply.

Medullary neuroschistosomiasis in a pediatric patient: a case report.

Medullary neuroschistosomiasis in a pediatric patient: a case report.