Các bài viết có thể truy cập công khai - Carmen AyusoTìm hiểu thêm
Không có ở bất kỳ nơi nào: 20
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
S Benko, JA Fantes, J Amiel, DJ Kleinjan, S Thomas, J Ramsay, ...
Nature genetics 41 (3), 359-364, 2009
Các cơ quan ủy nhiệm: US National Institutes of Health
Genomic landscape of sporadic retinitis pigmentosa: findings from 877 Spanish cases
I Martin-Merida, A Avila-Fernandez, M Del Pozo-Valero, F Blanco-Kelly, ...
Ophthalmology 126 (8), 1181-1188, 2019
Các cơ quan ủy nhiệm: Government of Spain
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies
F Ceroni, D Aguilera-Garcia, N Chassaing, DA Bax, F Blanco-Kelly, ...
Human genetics 138, 1027-1042, 2019
Các cơ quan ủy nhiệm: Wellcome Trust, Government of Spain
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration
KM Nishiguchi, A Avila-Fernandez, RAC Van Huet, M Corton, ...
Ophthalmology 121 (8), 1620-1627, 2014
Các cơ quan ủy nhiệm: Swiss National Science Foundation, Government of Spain
Effect of polymorphisms on the pharmacokinetics, pharmacodynamics, and safety of risperidone in healthy volunteers
T Cabaleiro, D Ochoa, R López‐Rodríguez, M Román, J Novalbos, ...
Human Psychopharmacology: Clinical and Experimental 29 (5), 459-469, 2014
Các cơ quan ủy nhiệm: Government of Spain
Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability
Y Tatour, I Sanchez-Navarro, E Chervinsky, H Hakonarson, H Gawi, ...
Journal of medical genetics 54 (10), 698-704, 2017
Các cơ quan ủy nhiệm: Government of Spain
High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations
I Balikova, T de Ravel, C Ayuso, B Thienpont, I Casteels, C Villaverde, ...
American journal of ophthalmology 151 (6), 1087-1094. e45, 2011
Các cơ quan ủy nhiệm: Research Foundation (Flanders), Government of Spain
Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia
T Chassine, B Bocquet, V Daien, A Avila-Fernandez, C Ayuso, RWJ Collin, ...
British Journal of Ophthalmology 99 (10), 1360-1365, 2015
Các cơ quan ủy nhiệm: Government of Spain
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex
M García, JL Santiago, A Terrón, A Hernández‐Martín, A Vicente, ...
British Journal of Dermatology 165 (3), 683-692, 2011
Các cơ quan ủy nhiệm: Government of Spain
Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes.
M Álvarez‐Satta, S Castro‐Sánchez, I Pereiro, T Piñeiro‐Gallego, ...
Clinical Genetics 86 (6), 2014
Các cơ quan ủy nhiệm: Government of Spain
Genetics and epidemiology of aniridia: Updated guidelines for genetic study
F Blanco-Kelly, M Tarilonte, M Villamar, A Damián, A Tamayo, ...
Archivos de la Sociedad Española de Oftalmología (English Edition) 96, 4-14, 2021
Các cơ quan ủy nhiệm: Government of Spain
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa
G Olivier, M Corton, D Intartaglia, SK Verbakel, PI Sergouniotis, ...
Journal of Medical Genetics 58 (8), 570-578, 2021
Các cơ quan ủy nhiệm: Fondazione Telethon, Italy, National Institute for Health Research, UK …
Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation
A González-Quintana, MJ Trujillo-Tiebas, AL Fernández-Perrone, ...
Molecular Genetics and Metabolism 131 (3), 341-348, 2020
Các cơ quan ủy nhiệm: US National Institutes of Health, Government of Spain
Pharmacodynamic genetic variants related to antipsychotic adverse reactions in healthy volunteers
R Lopez-Rodriguez, T Cabaleiro, D Ochoa, M Roman, AM Borobia, ...
Pharmacogenomics 14 (10), 1203-1214, 2013
Các cơ quan ủy nhiệm: Government of Spain
Recessive dystrophic epidermolysis bullosa: the origin of the c. 6527insC mutation in the Spanish population
C Sanchez‐Jimeno, N Cuadrado‐Corrales, E Aller, M García, ...
British Journal of Dermatology 168 (1), 226-229, 2013
Các cơ quan ủy nhiệm: Government of Spain
Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia
M Tarilonte, P Ramos, J Moya, G Fernandez-Sanz, F Blanco-Kelly, ...
Journal of medical genetics 59 (5), 428-437, 2022
Các cơ quan ủy nhiệm: Government of Spain
Homozygous females for a X-linked RPGR-ORF15 mutation in an Iranian family with retinitis pigmentosa
F Beigi, M Del Pozo-Valero, I Martin-Merida, MR Manaviat, C Ayuso, ...
Experimental Eye Research 211, 108714, 2021
Các cơ quan ủy nhiệm: Government of Spain
Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic retinal disease
F Beigi, M Del Pozo-Valero, I Martin-Merida, I Perea-Romero, ...
Experimental Eye Research 207, 108533, 2021
Các cơ quan ủy nhiệm: US National Institutes of Health, Government of Spain
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report
F Martínez‐Granero, E Martínez‐Cayuelas, C Rodilla, G Núñez‐Moreno, ...
Clinical Genetics 103 (4), 448-452, 2023
Các cơ quan ủy nhiệm: Government of Spain
Rare Disease Research
F Palau, C Ayuso
Handbook of Bioethical Decisions. Volume I: Decisions at the Bench, 123-143, 2023
Các cơ quan ủy nhiệm: Government of Spain
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