Kamu erişimi zorunlu olan makaleler - Elston N D'SouzaDaha fazla bilgi edinin
Bir yerde sunuluyor: 10
Exploring the structural distribution of genetic variation in SARS-CoV-2 with the COVID-3D online resource
S Portelli, M Olshansky, CHM Rodrigues, EN D’Souza, Y Myung, M Silk, ...
Nature genetics 52 (10), 999-1001, 2020
Zorunlu olanlar: National Health and Medical Research Council, Australia, A*Star, Singapore …
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Y Chen, R Dawes, HC Kim, A Ljungdahl, SL Stenton, S Walker, J Lord, ...
Nature 632 (8026), 832-840, 2024
Zorunlu olanlar: National Health and Medical Research Council, Australia, Fonds de recherche …
MTR3D: identifying regions within protein tertiary structures under purifying selection
M Silk, DEV Pires, CHM Rodrigues, EN D’Souza, M Olshansky, N Thorne, ...
Nucleic Acids Research 49 (W1), W438-W445, 2021
Zorunlu olanlar: National Health and Medical Research Council, Australia, UK Medical Research …
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
Y Chen, R Dawes, HC Kim, SL Stenton, S Walker, A Ljungdahl, J Lord, ...
medRxiv, 2024
Zorunlu olanlar: National Health and Medical Research Council, Australia, Fonds de recherche …
Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes
N Wieder, EN D’Souza, AC Martin-Geary, FH Lassen, J Talbot-Martin, ...
Genome biology 25 (1), 111, 2024
Zorunlu olanlar: National Institute for Health Research, UK, Wellcome Trust
COVID-3D: An online resource to explore the structural distribution of genetic variation in SARS-CoV-2 and its implication on therapeutic development
S Portelli, M Olshansky, CHM Rodrigues, EN D’Souza, Y Myung, M Silk, ...
bioRxiv, 2020.05. 29.124610, 2020
Zorunlu olanlar: National Health and Medical Research Council, Australia, UK Medical Research …
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease
AC Martin-Geary, AJM Blakes, R Dawes, SD Findlay, J Lord, S Walker, ...
medRxiv, 2023
Zorunlu olanlar: US National Institutes of Health, UK Medical Research Council, National …
Modulation of prion protein expression through cryptic splice site manipulation
JE Gentile, TL Corridon, MA Mortberg, EN D’Souza, N Whiffin, EV Minikel, ...
Journal of Biological Chemistry 300 (8), 2024
Zorunlu olanlar: Wellcome Trust
Whole genome sequencing of ‘mutation-negative’individuals with Cornelia de Lange Syndrome
M Ansari, M Halachev, D Parry, JL Campos, EN D’Souza, C Barnett, ...
medRxiv, 2022.09. 18.22277970, 2022
Zorunlu olanlar: National Institute for Health Research, UK, Wellcome Trust, Royal Society UK
Whole Genome Sequencing of “Mutation‐Negative” Individuals With Cornelia de Lange Syndrome
M Ansari, M Halachev, D Parry, JL Campos, EN D’Souza, C Barnett, ...
Human Mutation 2025 (1), 4711663, 2025
Zorunlu olanlar: National Institute for Health Research, UK, Wellcome Trust
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