Browse by UCL people
Group by: Type | Date
Number of items: 7.
Article
Dobloug, Sigurd;
Kjellstroem, Ulrika;
Anderson, Glenn;
Gardner, Emily;
Mole, Sara E;
Sheth, Jayesh;
Puschmann, Andreas;
(2024)
Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants.
Molecular Genetics and Genomic Medicine
, 12
(8)
, Article e2505. 10.1002/mgg3.2505.
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Engin, Zeynep;
Gardner, Emily;
Hyde, Andrew;
Verhulst, Stefaan;
Crowcroft, Jon;
(2024)
Unleashing collective intelligence for public decision-making: the Data for Policy community.
Data & Policy
, 6
, Article e23. 10.1017/dap.2024.2.
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Gardner, E;
Mole, SE;
(2021)
The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses.
Frontiers in Neurology
, 12
, Article 754045. 10.3389/fneur.2021.754045.
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Gardner, E;
Bailey, M;
Schulz, A;
Aristorena, M;
Miller, N;
Mole, SE;
(2019)
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
Human Mutation
, 40
(11)
pp. 1924-1938.
10.1002/humu.23860.
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Lourenço, CM;
Pessoa, A;
Mendes, CC;
Rivera-Nieto, C;
Vergara, D;
Troncoso, M;
Gardner, E;
... Mole, SE; + view all
(2020)
Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.
Journal of Paediatrics and Child Health
10.1111/jpc.15250.
(In press).
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Mole, SE;
Gardner, E;
Mason, HL;
(2025)
How can real-world data, registries, and databases address the challenges of rare diseases?
Medical Writing
, 34
(1)
pp. 46-50.
10.56012/kwle5627.
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Thesis
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Gardner, Emily;
(2019)
Anti-vaccine activism: agnotological dissent and epistemic harm.
Masters thesis (M.Sc), UCL (University College London).
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