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Did you mean susanna body (198 results)?
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss.
Espino Guarch M, Font-Llitjós M, Murillo-Cuesta S, Errasti-Murugarren E, Celaya AM, Girotto G, Vuckovic D, Mezzavilla M, Vilches C, Bodoy S, Sahún I, González L, Prat E, Zorzano A, Dierssen M, Varela-Nieto I, Gasparini P, Palacín M, Nunes V. Espino Guarch M, et al. Among authors: bodoy s. Elife. 2018 Jan 22;7:e31511. doi: 10.7554/eLife.31511. Elife. 2018. PMID: 29355479 Free PMC article.
Novel cystine transporter in renal proximal tubule identified as a missing partner of cystinuria-related plasma membrane protein rBAT/SLC3A1.
Nagamori S, Wiriyasermkul P, Guarch ME, Okuyama H, Nakagomi S, Tadagaki K, Nishinaka Y, Bodoy S, Takafuji K, Okuda S, Kurokawa J, Ohgaki R, Nunes V, Palacín M, Kanai Y. Nagamori S, et al. Among authors: bodoy s. Proc Natl Acad Sci U S A. 2016 Jan 19;113(3):775-80. doi: 10.1073/pnas.1519959113. Epub 2016 Jan 6. Proc Natl Acad Sci U S A. 2016. PMID: 26739563 Free PMC article.
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.
García-Cazorla A, Oyarzabal A, Fort J, Robles C, Castejón E, Ruiz-Sala P, Bodoy S, Merinero B, Lopez-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch R, Palacín M, Rodríguez-Pombo P, Alcaide P, Navarrete R, Sanz P, Font-Llitjós M, Vilaseca MA, Ormaizabal A, Pristoupilova A, Agulló SB. García-Cazorla A, et al. Among authors: bodoy s. Hum Mutat. 2014 Apr;35(4):470-7. doi: 10.1002/humu.22513. Epub 2014 Mar 5. Hum Mutat. 2014. PMID: 24449431