Thalia Antoniadi

Birmingham, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 11 publications

STAG1 developmental disorder associated with acute lymphoblastic leukaemia: a case report.

STAG1 developmental disorder associated with acute lymphoblastic leukaemia: a case report.

Journal: Clinical dysmorphology

Published: August 20, 2025

Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency.

Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency.

Journal: JCEM case reports

Published: April 15, 2025

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.

Journal: Clinical genetics

Published: March 30, 2020

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.

Journal: American journal of human genetics

Published: March 01, 2019

Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case.

Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case.

Journal: Neuromuscular disorders : NMD

Published: May 13, 2018

Deletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease.

Deletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease.

Journal: Neuromuscular disorders : NMD

Published: December 23, 2016

Genetic heterogeneity of motor neuropathies.

Genetic heterogeneity of motor neuropathies.

Journal: Neurology

Published: September 05, 2016

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

Journal: European journal of human genetics : EJHG

Published: November 26, 2015

Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

Journal: BMC medical genetics

Published: April 17, 2015

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.

Journal: Journal of neurology

Published: March 23, 2015

Phenotypic variability of TRPV4 related neuropathies.

Phenotypic variability of TRPV4 related neuropathies.

Journal: Neuromuscular disorders : NMD

Published: January 28, 2015

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Last Updated: 09/26/2026