Panayiotis Constantinou
Glasgow, SCT, United Kingdom
Last Updated: 09/26/2026
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Found 9 publications
Cardiovascular risk in achondroplasia: a systematic review.
Journal: Journal of medical genetics
Published: June 24, 2025
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.
Journal: medRxiv : the preprint server for health sciences
Published: October 09, 2023
Progressive osseous heteroplasia: A case report with an unexpected trigger.
Journal: Bone reports
Published: November 10, 2022
Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype.
Journal: Journal of neuromuscular diseases
Published: September 04, 2022
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 03, 2021
Further delineation of phenotypic spectrum of SCN2A-related disorder.
Journal: American journal of medical genetics. Part A
Published: May 26, 2021
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 30, 2020
Genetics of gynaecological cancers.
Journal: Best practice & research. Clinical obstetrics & gynaecology
Published: November 01, 2016
Showing 1-9 of 9
Last Updated: 09/26/2026