Artículos con órdenes de acceso público - Marcia A. HasenahuerMás información
Disponibles en algún lugar: 12
De novo VPS4A mutations cause multisystem disease with abnormal neurodevelopment
C Rodger, E Flex, RJ Allison, A Sanchis-Juan, MA Hasenahuer, ...
The American Journal of Human Genetics 107 (6), 1129-1148, 2020
Órdenes: UK Medical Research Council, National Institute for Health Research, UK …
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
Genome biology 25 (1), 53, 2024
Órdenes: US Department of Energy, US National Institutes of Health, German Research …
Pockets as structural descriptors of EGFR kinase conformations
MA Hasenahuer, GP Barletta, S Fernandez-Alberti, G Parisi, MS Fornasari
PLoS One 12 (12), e0189147, 2017
Órdenes: Gobierno de Argentina
Curating the gnomAD database: Report of novel variants in the globin‐coding genes and bioinformatics analysis
KG Scheps, MA Hasenahuer, G Parisi, HM Targovnik, MS Fornasari
Human Mutation 41 (1), 81-102, 2020
Órdenes: Gobierno de Argentina
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate
A Sanchis‐Juan, MA Hasenahuer, JA Baker, A McTague, K Barwick, ...
Molecular genetics & genomic medicine 8 (7), e1106, 2020
Órdenes: UK Medical Research Council, National Institute for Health Research, UK
Second iscb latin american student council symposium (la-scs) 2016
AM Monzon, MA Hasenahuer, E Mancini, N Coimbra, F Cravero, ...
F1000Research 6, ISCB Comm J-1491, 2017
Órdenes: Gobierno de Argentina
Two novel unstable hemoglobin variants due to in‐frame deletions of key amino acids in the β‐globin chain
KG Scheps, MA Hasenahuer, G Parisi, HM Targovnik, E García, ES Veber, ...
European Journal of Haematology 100 (6), 529-535, 2018
Órdenes: Gobierno de Argentina
Highlights of the 1st Argentine Symposium of Young Bioinformatics Researchers (1SAJIB) organized by the ISCB RSG-Argentina
RG Parra, LA Defelipe, AB Guzovsky, A Monzón, F Cravero, E Mancini, ...
PeerJ, 2016
Órdenes: Gobierno de Argentina
Twenty‐One Novel EGFR Kinase Domain variants in Patients with Nonsmall Cell Lung Cancer
MA Hasenahuer, G Parisi, M Gautier, A Lazarowski, GF Bramuglia, ...
Annals of Human Genetics 79 (6), 385-393, 2015
Órdenes: Gobierno de Argentina
Hb Wilde and Hb Patagonia: two novel elongated beta‐globin variants causing dominant beta‐thalassemia
KG Scheps, MA Hasenahuer, G Parisi, MS Fornasari, SP Pennesi, ...
European journal of haematology 94 (6), 498-503, 2015
Órdenes: Gobierno de Argentina
Mapping the Constrained Coding Regions in the human genome to their corresponding proteins
MA Hasenahuer, A Sanchis-Juan, RA Laskowski, JA Baker, ...
Journal of Molecular Biology 435 (2), 167892, 2023
Órdenes: UK Medical Research Council, National Institute for Health Research, UK …
Critical assessment of genome interpretation consortium. CAGI, the critical assessment of genome interpretation, establishes progress and pprospects for computational genetic …
S Jain, C Bakolitsa, EB Steven, P Radivojac, J Moult, S Repo, AH Roger, ...
Genome Biology 22 (22; 25 (1): 53.), 1-46, 2024
Órdenes: US Department of Energy, US National Institutes of Health, German Research …
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