受强制性开放获取政策约束的文章 - Miguel López de Heredia了解详情
可在其他位置公开访问的文章：22 篇
Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype
ML de Heredia, R Clèries, V Nunes
Genetics in Medicine 15 (7), 497-506, 2013
强制性开放获取政策： Government of Spain
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19
E Pairo-Castineira, K Rawlik, AD Bretherick, T Qi, Y Wu, I Nassiri, ...
Nature 617 (7962), 764-768, 2023
强制性开放获取政策： UK Biotechnology and Biological Sciences Research Council, British Heart …
Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction
MB Hoegg-Beiler, S Sirisi, IJ Orozco, I Ferrer, S Hohensee, M Auberson, ...
Nature communications 5 (1), 3475, 2014
强制性开放获取政策： German Research Foundation, Government of Spain
Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model
A Duarri, ML de Heredia, X Capdevila-Nortes, MC Ridder, M Montolio, ...
Neurobiology of disease, 2011
强制性开放获取政策： US National Institutes of Health
BootstRatio: a web-based statistical analysis of fold-change in qPCR and RT-qPCR data using resampling methods
R Clèries, J Galvez, M Espino, J Ribes, V Nunes, ML de Heredia
Computers in biology and medicine 42 (4), 438-445, 2012
强制性开放获取政策： Government of Spain
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia
D Astuti, A Sabir, P Fulton, M Zatyka, D Williams, C Hardy, G Milan, ...
Hum Mutat 38 (7), 764-777, 2017
强制性开放获取政策： US National Institutes of Health, UK Medical Research Council, National …
EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome
A Farmer, S Aymé, ML de Heredia, P Maffei, S McCafferty, W Młynarski, ...
BMC pediatrics 13, 1-7, 2013
强制性开放获取政策： National Institute of Health and Medical Research, France, Government of Spain
Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents
X Capdevila-Nortes, T Lopez-Hernandez, PM Apaja, M López de Heredia, ...
Human molecular genetics 22 (21), 4405-4416, 2013
强制性开放获取政策： Canadian Institutes of Health Research
Novel genes and sex differences in COVID-19 severity
R Cruz, S Diz-de Almeida, M López de Heredia, I Quintela, FC Ceballos, ...
Human Molecular Genetics 31 (22), 3789-3806, 2022
强制性开放获取政策： Banking Foundation "la Caixa", European Commission, Government of Spain
A second update on mapping the human genetic architecture of COVID-19
M Kanai, SJ Andrews, M Cordioli, C Stevens, BM Neale, M Daly, A Ganna, ...
Nature 621 (7977), E7-E26, 2023
强制性开放获取政策： US National Institutes of Health, UK Medical Research Council
Differences in expression rather than methylation at placenta-specific imprinted loci is associated with intrauterine growth restriction
A Monteagudo-Sánchez, M Sánchez-Delgado, JRH Mora, NT Santamaría, ...
Clinical Epigenetics 11, 1-15, 2019
强制性开放获取政策： Government of Spain
Cooperation of antiporter LAT2/CD98hc with uniporter TAT1 for renal reabsorption of neutral amino acids
C Vilches, E Boiadjieva-Knöpfel, S Bodoy, S Camargo, ML de Heredia, ...
Journal of the American Society of Nephrology 29 (6), 1624-1635, 2018
强制性开放获取政策： Swiss National Science Foundation, Government of Spain
Digenic inheritance in cystinuria mouse model
M Espino, M Font-Llitjós, C Vilches, E Salido, E Prat, M López de Heredia, ...
Plos one 10 (9), e0137277, 2015
强制性开放获取政策： Government of Spain
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
J Luque, I Mendes, B Gomez, B Morte, M López de Heredia, E Herreras, ...
Clinical Genetics 101 (5-6), 481-493, 2022
强制性开放获取政策： Government of Spain
HLA‐A*11:01 and HLA‐C*04:01 are associated with severe COVID‐19
P Castro‐Santos, A Rojas‐Martinez, JA Riancho, P Lapunzina, C Flores, ...
Hla 102 (6), 731-739, 2023
强制性开放获取政策： Government of Spain
Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders
EM Lee, M Verma, N Palaniappan, EM Pope, S Lee, L Blacher, ...
Frontiers in Genetics 14, 1198171, 2023
强制性开放获取政策： US National Institutes of Health
The antioxidant l-Ergothioneine prevents cystine lithiasis in the Slc7a9−/− mouse model of cystinuria
C Mayayo-Vallverdú, ML de Heredia, E Prat, L González, ME Guarch, ...
Redox biology 64, 102801, 2023
强制性开放获取政策： Government of Spain
S-methyl-L-ergothioneine to L-ergothioneine ratio in urine is a Marker of cystine lithiasis in a cystinuria mouse model
M López de Heredia, L Muñoz, C Carru, S Sotgia, A Zinellu, C Serra, ...
Antioxidants 10 (9), 1424, 2021
强制性开放获取政策： Government of Spain
Novel risk loci for COVID-19 hospitalization among admixed American populations
S Diz-de Almeida, R Cruz, AD Luchessi, JM Lorenzo-Salazar, ...
medRxiv, 2023.08. 11.23293871, 2023
强制性开放获取政策： Banking Foundation "la Caixa", Government of Spain
Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study
S Gràcia-Garcia, C Mayayo Vallverdú, E Prat, M Vecino-Pérez, ...
International Journal of Molecular Sciences, 2023, vol. 24, num. 24, 2023
强制性开放获取政策： Government of Spain
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