Roser M. Pons

Athens, ESYE31 11527, Greece

Last Updated: 09/26/2026

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Found 88 publications

Rare-ID: Genomic Diagnosis in Symptomatic Neonates and Young Infants with Complex Clinical Phenotypes: A Descriptive Cohort Study.

Rare-ID: Genomic Diagnosis in Symptomatic Neonates and Young Infants with Complex Clinical Phenotypes: A Descriptive Cohort Study.

Journal: Genes

Published: May 19, 2026

Cognitive and Psychosocial Burden of Childhood Cancer Survivors in Greece: A Case-Control Study.

Cognitive and Psychosocial Burden of Childhood Cancer Survivors in Greece: A Case-Control Study.

Journal: Medical sciences (Basel, Switzerland)

Published: February 17, 2026

Café-au-lait macules in a cohort of Greek children genetically diagnosed with neurofibromatosis type 1: Prognostic significance beyond their diagnostic relevance.

Café-au-lait macules in a cohort of Greek children genetically diagnosed with neurofibromatosis type 1: Prognostic significance beyond their diagnostic relevance.

Journal: Dermatology online journal

Published: February 09, 2026

Tasks for assessing dystonia in young people with cerebral palsy.

Tasks for assessing dystonia in young people with cerebral palsy.

Journal: medRxiv : the preprint server for health sciences

Published: September 18, 2025

International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives.

International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: September 03, 2025

Tasks for Assessing Dystonia in Young People With Cerebral Palsy.

Tasks for Assessing Dystonia in Young People With Cerebral Palsy.

Journal: Pediatric neurology

Published: August 04, 2025

Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency.

Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency.

Journal: Journal of inherited metabolic disease

Published: July 05, 2025

A Novel Frameshift Variant and a Partial EHMT1 Microdeletion in Kleefstra Syndrome 1 Patients Resulting in Variable Phenotypic Severity and Literature Review.

A Novel Frameshift Variant and a Partial EHMT1 Microdeletion in Kleefstra Syndrome 1 Patients Resulting in Variable Phenotypic Severity and Literature Review.

Journal: Genes

Published: April 10, 2025

"Tuberous sclerosis in Greece: A national cohort study on clinical features and rare manifestations".

"Tuberous sclerosis in Greece: A national cohort study on clinical features and rare manifestations".

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: March 29, 2025

Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients.

Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients.

Journal: Brain : a journal of neurology

Published: March 15, 2025

Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients.

Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients.

Journal: Brain : a journal of neurology

Published: March 15, 2025

Early Levodopa Therapy in Tyrosine Hydroxylase Deficiency.

Early Levodopa Therapy in Tyrosine Hydroxylase Deficiency.

Journal: Movement disorders clinical practice

Published: February 11, 2025

Showing 1-12 of 88

Last Updated: 09/26/2026