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Navegación por Autor Faiz, Fathimath
Mostrando resultados 1 a 3 de 3
Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
closedAccess | | 1-abr-2023 | A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism | Dofash, Lein N. H.; Monahan, Gavin V.; Servián Morilla, E. CSIC ORCID; Rivas Infante, Eloy; Faiz, Fathimath; Sullivan, Patricia; Oates, Emily; Clayton, Joshua; Taylor, Rhonda L.; Davis, Mark R.; Beilharz, Traude; Laing, Nigel G.; Cabrera-Serrano, Macarena CSIC ORCID; Ravenscroft, Gianina | artículo |
openAccess | | 10-ago-2022 | A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism | Dofash, Lein N. H.; Monahan, Gavin V.; Servián Morilla, E. CSIC ORCID; Rivas Infante, Eloy; Faiz, Fathimath; Sullivan, Patricia; Oates, Emily; Clayton, Joshua; Taylor, Rhonda L.; Davis, Mark R.; Beilharz, Traude; Laing, Nigel G.; Cabrera-Serrano, Macarena CSIC ORCID; Ravenscroft, Gianina | preprint |
openAccess | | mar-2020 | Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience | Beecroft, Sarah J.; Yau, Kyle S.; Allcock, Richard J. N.; Mina, Kym; Gooding, Rebecca; Faiz, Fathimath; Atkinson, Vanessa J.; Wise, Cheryl; Sivadorai, Padma; Trajanoski, Daniel; Kresoje, Nina; Ong, Royston; Duff, Rachael, M.; Cabrera-Serrano, Macarena CSIC ORCID; Nowak, Kristen J.; Pachter, Nicholas; Ravenscroft, Gianina; Lamont, P. J.; Davis, Mark R.; Laing, Nigel G. | artículo |