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Hildegard Nikki Hall
Observed names:
H. N. Hall,
H. Nikki Hall,
Hildegard N. Hall,
Nikki Hall
Institutions:
NHS Fife,
Queen Margaret Hospital
Observed institutions:
NHS Lothian,
Western General Hospital,
Princess Alexandra Eye Pavilion,
NHS Fife,
Queen Margaret Hospital,
Institute of Genetics and Cancer,
MRC Human Genetics Unit,
University of Edinburgh
show all 8
ORCID:
0000-0001-7082-1523
Observed ORCID:
0000-0001-7082-1523
OpenAlex ID:
A5083173934
Works
19
Awards
1
The genetic architecture of aniridia and Gillespie syndrome
2018
·
Hildegard Nikki Hall
, Kathleen A. Williamson
, et al.
·
Human Genetics
·
76
PDF
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
2019
·
Kathleen A. Williamson
, H. Nikki Hall
, et al.
·
Genetics in Medicine
·
63
PDF
Corneal perforation from peripheral ulcerative keratopathy in patients with rheumatoid arthritis: epidemiological findings of the British Ophthalmological Surveillance Unit
2017
·
Hannah Mary Timlin
, Hildegard Nikki Hall
, et al.
·
British Journal of Ophthalmology
·
38
The incidence of acute angle closure in Scotland: a prospective surveillance study
2017
·
Paul Y Chua
, Alexander C Day
, et al.
·
British Journal of Ophthalmology
·
28
PDF
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease
2022
·
Charlie F. Rowlands
, Algy Taylor
, et al.
·
The American Journal of Human Genetics
·
27
PDF
Developing junior doctor‐delivered teaching
2013
·
Zeshan Qureshi
, Michael Ross
, et al.
·
The Clinical Teacher
·
24
Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants
2024
·
Alexander F McDonnell
, Marcin Plech
, et al.
·
Molecular Systems Biology
·
18
PDF
Epidemiology of blindness attributable to diabetes in Scotland: change over 20 years in a defined population
2013
·
H. N. Hall
, D. J. Chinn
, et al.
·
Diabetic Medicine
·
13
Electronic Referrals and Digital Imaging Systems in Ophthalmology: A Global Perspective
2016
·
V. Swetha E. Jeganathan
, H. Nikki Hall
, et al.
·
Asia-Pacific Journal of Ophthalmology
·
11
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia
2023
·
Hildegard Nikki Hall
, David Parry
, et al.
·
Journal of Medical Genetics
·
7
PDF
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia
2022
·
Hildegard Nikki Hall
, Hemant Bengani
, et al.
·
PLoS ONE
·
7
Of numbers and movement – understanding transcription factor pathogenesis by advanced microscopy
2020
·
Julia M. T. Auer
, Jack J. Stoddart
, et al.
·
Disease Models & Mechanisms
·
7
PDF
Emerging Gene Manipulation Strategies for the Treatment of Monogenic Eye Disease
2022
·
Frederick R. Burgess
, Hildegard Nikki Hall
, et al.
·
Asia-Pacific Journal of Ophthalmology
·
4
Recovery from blindness following accidental quinine overdose
2017
·
Hildegard Nikki Hall
, Andrew J Tatham
·
Practical Neurology
·
4
PDF
The Unofficial Guide to Passing OSCEs.
2012
·
Hildegard Nikki Hall
·
2
The NR2F1-Related 5q14.3–q21.1 deletion causing periventricular heterotopia with cerebral visual impairment: a longitudinal case report and genotype–phenotype analysis
2026
·
Helen St Clair Tracy
, Gordon N. Dutton
, et al.
·
Frontiers in Genetics
PDF
FRCOphth: 400 SBAs and CRQs Part 1 (Postgrad Exams)
2016
·
Hildegard Nikki Hall
, Robert Peden
The Unofficial Guide to Practical Skills
2014
·
Hildegard Nikki Hall
Endocrine and Diabetes, Drugs and Metabolic Emergencies.
2012
·
Hildegard Nikki Hall
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Works count:
19
Citation count:
329
H-index:
9
I10-index:
9
Year
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