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Showing results for israel ayuso
Your search for Ismael Ayuso retrieved no results
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Khan M, et al. Genet Med. 2020 Jul;22(7):1235-1246. doi: 10.1038/s41436-020-0787-4. Epub 2020 Apr 20. Genet Med. 2020. PMID: 32307445 Free article.
Grazing and ecosystem service delivery in global drylands.
Maestre FT, Le Bagousse-Pinguet Y, Delgado-Baquerizo M, Eldridge DJ, Saiz H, Berdugo M, Gozalo B, Ochoa V, Guirado E, García-Gómez M, Valencia E, Gaitán JJ, Asensio S, Mendoza BJ, Plaza C, Díaz-Martínez P, Rey A, Hu HW, He JZ, Wang JT, Lehmann A, Rillig MC, Cesarz S, Eisenhauer N, Martínez-Valderrama J, Moreno-Jiménez E, Sala O, Abedi M, Ahmadian N, Alados CL, Aramayo V, Amghar F, Arredondo T, Ahumada RJ, Bahalkeh K, Ben Salem F, Blaum N, Boldgiv B, Bowker MA, Bran D, Bu C, Canessa R, Castillo-Monroy AP, Castro H, Castro I, Castro-Quezada P, Chibani R, Conceição AA, Currier CM, Darrouzet-Nardi A, Deák B, Donoso DA, Dougill AJ, Durán J, Erdenetsetseg B, Espinosa CI, Fajardo A, Farzam M, Ferrante D, Frank ASK, Fraser LH, Gherardi LA, Greenville AC, Guerra CA, Gusmán-Montalvan E, Hernández-Hernández RM, Hölzel N, Huber-Sannwald E, Hughes FM, Jadán-Maza O, Jeltsch F, Jentsch A, Kaseke KF, Köbel M, Koopman JE, Leder CV, Linstädter A, le Roux PC, Li X, Liancourt P, Liu J, Louw MA, Maggs-Kölling G, Makhalanyane TP, Issa OM, Manzaneda AJ, Marais E, Mora JP, Moreno G, Munson SM, Nunes A, Oliva G, Oñatibia GR, Peter G, Pivari MOD, Pueyo Y, Quiroga RE, Rahmanian S, Reed SC, Rey PJ, Richard B… See abstract for full author list ➔ Maestre FT, et al. Science. 2022 Nov 25;378(6622):915-920. doi: 10.1126/science.abq4062. Epub 2022 Nov 24. Science. 2022. PMID: 36423285
The asymmetry of antimatter in the proton.
Dove J, Kerns B, McClellan RE, Miyasaka S, Morton DH, Nagai K, Prasad S, Sanftl F, Scott MBC, Tadepalli AS, Aidala CA, Arrington J, Ayuso C, Barker CL, Brown CN, Chang WC, Chen A, Christian DC, Dannowitz BP, Daugherity M, Diefenthaler M, El Fassi L, Geesaman DF, Gilman R, Goto Y, Guo L, Guo R, Hague TJ, Holt RJ, Isenhower D, Kinney ER, Kitts N, Klein A, Kleinjan DW, Kudo Y, Leung C, Lin PJ, Liu K, Liu MX, Lorenzon W, Makins NCR, de Medeiros MM, McGaughey PL, Miyachi Y, Mooney I, Nakahara K, Nakano K, Nara S, Peng JC, Puckett AJ, Ramson BJ, Reimer PE, Rubin JG, Sawada S, Sawada T, Shibata TA, Su D, Teo M, Tice BG, Towell RS, Uemura S, Watson S, Wang SG, Wickes AB, Wu J, Xi Z, Ye Z. Dove J, et al. Nature. 2021 Feb;590(7847):561-565. doi: 10.1038/s41586-021-03282-z. Epub 2021 Feb 24. Nature. 2021. PMID: 33627814
Publisher Correction: The asymmetry of antimatter in the proton.
Dove J, Kerns B, McClellan RE, Miyasaka S, Morton DH, Nagai K, Prasad S, Sanftl F, Scott MBC, Tadepalli AS, Aidala CA, Arrington J, Ayuso C, Barker CL, Brown CN, Chang WC, Chen A, Christian DC, Dannowitz BP, Daugherity M, Diefenthaler M, El Fassi L, Geesaman DF, Gilman R, Goto Y, Guo L, Guo R, Hague TJ, Holt RJ, Isenhower D, Kinney ER, Kitts N, Klein A, Kleinjan DW, Kudo Y, Leung C, Lin PJ, Liu K, Liu MX, Lorenzon W, Makins NCR, de Medeiros MM, McGaughey PL, Miyachi Y, Mooney I, Nakahara K, Nakano K, Nara S, Peng JC, Puckett AJ, Ramson BJ, Reimer PE, Rubin JG, Sawada S, Sawada T, Shibata TA, Su D, Teo M, Tice BG, Towell RS, Uemura S, Watson S, Wang SG, Wickes AB, Wu J, Xi Z, Ye Z. Dove J, et al. Nature. 2022 Apr;604(7907):E26. doi: 10.1038/s41586-022-04707-z. Nature. 2022. PMID: 35396581 No abstract available.
KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3.
de Guimaraes TAC, Georgiou M, Robson AG, Fujinami K, Vincent A, Nasser F, Khateb S, Mahroo OA, Pontikos N, Vargas ME, Thiadens AAHJ, Carvalho ER, Nguyen XT, Arno G, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Jiménez-Rolando B, Martin-Merida MI, Avila-Fernandez A, Salas EC, Garcia-Sandoval B, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Banin E, Pennesi ME, Khan AO, Wissinger B, Webster AR, Heon E, Boon CJF, Zrenner E, Michaelides M. de Guimaraes TAC, et al. Br J Ophthalmol. 2023 Oct 18:bjo-2023-323640. doi: 10.1136/bjo-2023-323640. Online ahead of print. Br J Ophthalmol. 2023. PMID: 37852740 Free article.
Effectiveness of a mental health stepped-care programme for healthcare workers with psychological distress in crisis settings: a multicentre randomised controlled trial.
Mediavilla R, Felez-Nobrega M, McGreevy KR, Monistrol-Mula A, Bravo-Ortiz MF, Bayón C, Giné-Vázquez I, Villaescusa R, Muñoz-Sanjosé A, Aguilar-Ortiz S, Figueiredo N, Nicaise P, Park AL, Petri-Romão P, Purgato M, Witteveen AB, Underhill J, Barbui C, Bryant R, Kalisch R, Lorant V, McDaid D, Melchior M, Sijbrandij M, Haro JM, Ayuso-Mateos JL; RESPOND Consortium. Mediavilla R, et al. BMJ Ment Health. 2023 Jun;26(1):e300697. doi: 10.1136/bmjment-2023-300697. BMJ Ment Health. 2023. PMID: 37263708 Free PMC article. Clinical Trial.
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Weisschuh N, Sturm M, Baumann B, Audo I, Ayuso C, Bocquet B, Branham K, Brooks BP, Catalá-Mora J, Giorda R, Heckenlively JR, Hufnagel RB, Jacobson SG, Kellner U, Kitsiou-Tzeli S, Matet A, Martorell Sampol L, Meunier I, Rudolph G, Sharon D, Stingl K, Streubel B, Varsányi B, Wissinger B, Kohl S. Weisschuh N, et al. Hum Mutat. 2020 Jan;41(1):255-264. doi: 10.1002/humu.23920. Epub 2019 Sep 30. Hum Mutat. 2020. PMID: 31544997 Free PMC article.
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.
Georgiou M, Robson AG, Fujinami K, Leo SM, Vincent A, Nasser F, Cabral De Guimarães TA, Khateb S, Pontikos N, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, Arno G, Mahroo OA, Martin-Merida MI, Jimenez-Rolando B, Gordo G, Carreño E, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Wissinger B, Boon CJF, Banin E, Pennesi ME, Khan AO, Webster AR, Zrenner E, Héon E, Michaelides M. Georgiou M, et al. Am J Ophthalmol. 2021 May;225:95-107. doi: 10.1016/j.ajo.2020.11.022. Epub 2020 Dec 11. Am J Ophthalmol. 2021. PMID: 33309813 Free PMC article.
Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.
Tatour Y, Sanchez-Navarro I, Chervinsky E, Hakonarson H, Gawi H, Tahsin-Swafiri S, Leibu R, Lopez-Molina MI, Fernandez-Sanz G, Ayuso C, Ben-Yosef T. Tatour Y, et al. J Med Genet. 2017 Sep 18;54(10):698-704. doi: 10.1136/jmedgenet-2017-104632. Epub 2017 Aug 9. J Med Genet. 2017. PMID: 28794130
OBJECTIVES: To identify the genetic basis for syndromic RP in three unrelated families from Israel and Spain. METHODS: Whole exome sequencing was conducted in one Israeli and two Spanish families segregating autosomal recessive RP with intellectual disability. ...
OBJECTIVES: To identify the genetic basis for syndromic RP in three unrelated families from Israel and Spain. METHODS: Whole exome se …
18 results