Edith Said - Publications

Macular Dystrophy Associated With Hereditary Spastic Paraplegia Type 11 (Kjellin Syndrome): A Multidisciplinary Case Report.

Journal: Cureus

Published: March 31, 2026

Molecular genetic diagnosis of autosomal dominant polycystic kidney disease - A systematic review.

Journal: Global medical genetics

Published: February 07, 2026

Trophoblastic disease and choriocarcinoma.

Journal: European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology

Published: June 13, 2024

Persistent mild hypercalcaemia in an infant with pseudohypoaldosteronism and the diagnostic challenges faced.

Journal: Journal of nephrology

Published: January 29, 2024

Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta.

Journal: European journal of medical genetics

Published: November 26, 2023

Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.

Journal: American journal of medical genetics. Part A

Published: July 15, 2021

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.

Journal: Acta neuropathologica

Published: January 01, 2021

International consensus recommendations on the diagnostic work-up for malformations of cortical development.

Journal: Nature reviews. Neurology

Published: July 20, 2020

Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.

Journal: American journal of human genetics

Published: June 29, 2020

Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.

Journal: European journal of human genetics : EJHG

Published: September 04, 2019

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.

Journal: European journal of human genetics : EJHG

Published: October 23, 2018

Y Chromosome in Tumer syndrome; a case report.

Journal: Images in paediatric cardiology

Published: April 14, 2017