Neeti Ghali

London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 46 publications

Spontaneous coronary artery dissection and vascular Ehlers-Danlos syndrome: a systematic review and case series.

Spontaneous coronary artery dissection and vascular Ehlers-Danlos syndrome: a systematic review and case series.

Journal: European journal of human genetics : EJHG

Published: July 23, 2025

Clinical diagnosis of the monogenic Ehlers-Danlos syndromes.

Clinical diagnosis of the monogenic Ehlers-Danlos syndromes.

Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

Published: December 04, 2024

Non-genetic diagnostic investigations in monogenic Ehlers-Danlos syndromes.

Non-genetic diagnostic investigations in monogenic Ehlers-Danlos syndromes.

Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

Published: December 04, 2024

The Natural History of Dermatosparaxis Ehlers Danlos Syndrome: An Adult Case Series.

The Natural History of Dermatosparaxis Ehlers Danlos Syndrome: An Adult Case Series.

Journal: American journal of medical genetics. Part A

Published: September 12, 2024

Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood.

Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood.

Journal: European journal of human genetics : EJHG

Published: June 27, 2024

Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome.

Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome.

Journal: European journal of human genetics : EJHG

Published: April 19, 2024

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Journal: Genetics in medicine open

Published: November 14, 2023

Ehlers-Danlos syndromes: importance of defining the type.

Ehlers-Danlos syndromes: importance of defining the type.

Journal: Practical neurology

Published: October 16, 2023

Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.

Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.

Journal: Journal of medical genetics

Published: April 10, 2023

Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants.

Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants.

Journal: Frontiers in genetics

Published: January 19, 2023

Case report and discussion: Pre-implantation genetic diagnosis with surrogacy in vascular Ehlers-Danlos syndrome.

Case report and discussion: Pre-implantation genetic diagnosis with surrogacy in vascular Ehlers-Danlos syndrome.

Journal: Frontiers in genetics

Published: January 18, 2023

Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome.

Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome.

Journal: Frontiers in genetics

Published: January 02, 2023

Showing 1-12 of 46

Last Updated: 09/26/2026