Neeti Ghali

ORCID

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 5

Top Venues

Journal of medical genetics

European journal of human genetics : EJHG

Genetics in medicine : official journal of the American College of Medical Genetics

Genes

London North West Healthcare NHS Trust

This page only lists publications with an associated author ORCID identifier.

Affiliation History

London North West Healthcare NHS Trust Mar 01 2011

United Kingdom

Consultant Clinical Geneticist :: North West Thames Regional Genetics Service and EDS National Diagnostic Service

Publications

Anthony M Vandersteen, Ruwan A Weerakkody, David A Parry, Christina Kanonidou, Daniel J Toddie-Moore, Jana Vandrovcova, Rebecca Darlay, Javier Santoyo-Lopez, Alison Meynert, null null, Hanadi Kazkaz, Rodney Grahame, Carole Cummings, Marion Bartlett, Neeti Ghali, Angela F Brady, F Michael Pope, Fleur S van Dijk, Heather J Cordell, Timothy J Aitman
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome. Journal of medical genetics (2023)
Oliver Murch, Vani Jain, Andreas Benneche, Kay Metcalfe, Emma Hobson, Katrina Prescott, Kate Chandler, Neeti Ghali, Jenny Carmichael, Nicola C Foulds, Julie Paulsen, Marie F Smeland, Siren Berland, Andrew E Fry
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature. European journal of human genetics : EJHG (2021)
Chloe Angwin, Angela F Brady, F Michael Pope, Anthony Vandersteen, Duncan Baker, Harveer Cheema, Glenda Sobey, Diana Johnson, Kate von Klemperer, Hanadi Kazkaz, Fleur van Dijk, Neeti Ghali
Arterial complications in classical Ehlers-Danlos syndrome: a case series. Journal of medical genetics 57 (11) (2020)
Neeti Ghali, Duncan Baker, Angela F Brady, Nigel Burrows, Elena Cervi, Deirdre Cilliers, Michael Frank, Dominique P Germain, David J S Hulmes, Marie-Line Jacquemont, Peter Kannu, Henrietta Lefroy, Anne Legrand, F Michael Pope, Lisa Robertson, Anthony Vandersteen, Kate von Klemperer, Renarta Warburton, Margo Whiteford, Fleur S van Dijk
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility. Genetics in medicine : official journal of the American College of Medical Genetics 21 (9) (2019)
Chloe Angwin, Angela F Brady, Marina Colombi, David J P Ferguson, Rebecca Pollitt, F Michael Pope, Marco Ritelli, Sofie Symoens, Neeti Ghali, Fleur S van Dijk
Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients. Genes 10 (10) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Neeti Ghali