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1دورية أكاديمية
المؤلفون: Andelic, Mirna, Salvi, Erika, Marcuzzo, Stefania, Marchi, Margherita, Lombardi, Raffaella, Cartelli, Daniele, Cazzato, Daniele, Mehmeti, Elkadia, Gelemanovic, Andrea, Paolini, Matilde, Pardo, Carlotta, D'Amato, Ilaria, Hoeijmakers, Janneke G J, Dib-Hajj, Sulayman, Waxman, Stephen G, Faber, Catharina G, Lauria, Giuseppe
المساهمون: M. Andelic, E. Salvi, S. Marcuzzo, M. Marchi, R. Lombardi, D. Cartelli, D. Cazzato, E. Mehmeti, A. Gelemanovic, M. Paolini, C. Pardo, I. D'Amato, J.G.J. Hoeijmaker, S. Dib-Hajj, S.G. Waxman, C.G. Faber, G. Lauria
مصطلحات موضوعية: SCN9A, miRNA, neuropathic pain, skin biopsy, small fibre neuropathy, Settore MED/26 - Neurologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36730021; info:eu-repo/semantics/altIdentifier/wos/WOS:000950996000001; firstpage:1; lastpage:14; numberofpages:14; journal:BRAIN; https://hdl.handle.net/2434/953377Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85164211811
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2دورية أكاديمية
المؤلفون: Marchi, Margherita, D'Amato, Ilaria, Andelic, Mirna, Cartelli, Daniele, Salvi, Erika, Lombardi, Raffaella, Gumus, Evren, Lauria, Giuseppe
المصدر: Marchi , M , D'Amato , I , Andelic , M , Cartelli , D , Salvi , E , Lombardi , R , Gumus , E & Lauria , G 2022 , ' Congenital insensitivity to pain : a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A ' , Pain , vol. 163 , no. 7 , pp. E882-E887 . https://doi.org/10.1097/j.pain.0000000000002535Test
مصطلحات موضوعية: Congenital insensitivity to pain, Loss of function mutation, NA(V)1.7, RARE, SCN9A, SODIUM, U12-type introns
الإتاحة: https://doi.org/10.1097/j.pain.0000000000002535Test
https://cris.maastrichtuniversity.nl/en/publications/f33fc08e-2ae9-4f00-b6b1-29b930ae3e16Test -
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المؤلفون: Marchi, Margherita, D'Amato, Ilaria, Anđelić, Mirna, Cartelli, Daniele, Salvi, Erika, Lombardi, Raffaella, Gumus, Evren, Lauria Pinter, Giuseppe
مصطلحات موضوعية: SANGER SEQUENCING, NEXT GENERATION SEQUENCING, CONGENITAL INSENSITIVITY TO PAIN, SCN9A
العلاقة: info:eu-repo/grantAgreement/EC/H2020/721841/; https://zenodo.org/communities/bestaTest; https://zenodo.org/record/7673924Test; https://doi.org/10.5281/zenodo.7673924Test; oai:zenodo.org:7673924
الإتاحة: https://doi.org/10.5281/zenodo.7673924Test
https://doi.org/10.1097/J.PAIN.0000000000002535Test
https://doi.org/10.5281/zenodo.7673923Test
https://zenodo.org/record/7673924Test
