-
1دورية أكاديمية
المؤلفون: Ravaglia S., de Giuseppe R., Carlucci A., Jehne S., Crescimanno G., Ahmad L., Paoletti M., Clemente G., Pichiecchio A., Bazzano R., Cirio S., Valente E. M., Danesino C., De Filippi P., Tartara A., Cena H.
المساهمون: Ravaglia, S., de Giuseppe, R., Carlucci, A., Jehne, S., Crescimanno, G., Ahmad, L., Paoletti, M., Clemente, G., Pichiecchio, A., Bazzano, R., Cirio, S., Valente, E. M., Danesino, C., De Filippi, P., Tartara, A., Cena, H.
مصطلحات موضوعية: enzyme replacement therapy, late-onset pompe disease, long-term effectivene, nutritional assessment, outcome
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35252175; info:eu-repo/semantics/altIdentifier/wos/WOS:000766910600001; volume:10; firstpage:1; lastpage:10; numberofpages:10; journal:FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY; https://hdl.handle.net/11383/2131612Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85125881768
-
2دورية أكاديمية
المؤلفون: Taha I., Foroni S., Valli R., Frattini A., Roccia P., Porta G., Zecca M., Bergami E., Cipolli M., Pasquali F., Danesino C., Scotti C., Minelli A.
المساهمون: Taha, I., Foroni, S., Valli, R., Frattini, A., Roccia, P., Porta, G., Zecca, M., Bergami, E., Cipolli, M., Pasquali, F., Danesino, C., Scotti, C., Minelli, A.
مصطلحات موضوعية: EIF6, SBDS, Shwachman–Diamond syndrome, case report, whole-exome sequencing
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36035165; info:eu-repo/semantics/altIdentifier/wos/WOS:000844933400001; volume:13; firstpage:1; lastpage:10; numberofpages:10; journal:FRONTIERS IN GENETICS; https://hdl.handle.net/11383/2142991Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136701275
-
3دورية أكاديمية
المؤلفون: Ruiz-Llorente, L, Chiapparino, E, Plumitallo, S, Danesino, C, Bayrak-Toydemir, P, Pagella, F, Manfredi, G, Bernabeu, C, Jovine, L, Olivieri, C
المصدر: Gene. 696:33-39
مصطلحات موضوعية: Medicin och hälsovetenskap
-
4دورية أكاديمية
المؤلفون: Grandis, M, Obici, L, Luigetti, M, Briani, C, Benedicenti, F, Bisogni, G, Canepa, M, Cappelli, F, Danesino, C, Fabrizi, G M, Fenu, S, Ferrandes, G, Gemelli, C, Manganelli, F, Mazzeo, A, Melchiorri, L, Perfetto, F, Pradotto, L G, Rimessi, P, Tini, G, Tozza, S, Trevisan, L, Pareyson, D, Mandich, P
المساهمون: Grandis, M, Obici, L, Luigetti, M, Briani, C, Benedicenti, F, Bisogni, G, Canepa, M, Cappelli, F, Danesino, C, Fabrizi, G M, Fenu, S, Ferrandes, G, Gemelli, C, Manganelli, F, Mazzeo, A, Melchiorri, L, Perfetto, F, Pradotto, L G, Rimessi, P, Tini, G, Tozza, S, Trevisan, L, Pareyson, D, Mandich, P
مصطلحات موضوعية: ATTRv, Hereditary transthyretin amyloidosis, Pre-symptomatic genetic testing, PST
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33317601; info:eu-repo/semantics/altIdentifier/wos/WOS:000599794300002; volume:15; issue:348; firstpage:1; lastpage:7; numberofpages:7; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11562/1032701Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097555700; https://doi.org/10.1186/s13023-020-01633-zTest
-
5دورية أكاديمية
المؤلفون: Khan A. W., Minelli A., Frattini A., Montalbano G., Bogni A., Fabbri M., Porta G., Acquati F., Pinto R. M., Bergami E., Mura R., Pegoraro A., Cesaro S., Cipolli M., Zecca M., Danesino C., Locatelli F., Maserati E., Pasquali F., Valli R.
المساهمون: Khan, A. W., Minelli, A., Frattini, A., Montalbano, G., Bogni, A., Fabbri, M., Porta, G., Acquati, F., Pinto, R. M., Bergami, E., Mura, R., Pegoraro, A., Cesaro, S., Cipolli, M., Zecca, M., Danesino, C., Locatelli, F., Maserati, E., Pasquali, F., Valli, R.
مصطلحات موضوعية: clonal chromosome anomalies in bone marrow, EIF6 gene, expression analysi, risk of MDS/AML, Shwachman-diamond syndrome, somatic genetic rescue
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000512603700001; volume:13; issue:1; numberofpages:9; journal:MOLECULAR CYTOGENETICS; http://hdl.handle.net/11573/1480629Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85077375321
-
6دورية أكاديمية
المؤلفون: De Filippi P., Errichiello E., Toscano A., Mongini T., Moggio M., Ravaglia S., Filosto M., Servidei S., Musumeci O., Giannini F., Piperno A., Siciliano G., Ricci G., Di Muzio A., Rigoldi M., Tonin P., Croce M. G., Pegoraro E., Politano L., Maggi L., Telese R., Lerario A., Sancricca C., Vercelli L., Semplicini C., Pasanisi B., Bembi B., Dardis A., Palmieri I., Cereda C., Valente E. M., Danesino C.
المساهمون: De Filippi, P., Errichiello, E., Toscano, A., Mongini, T., Moggio, M., Ravaglia, S., Filosto, M., Servidei, S., Musumeci, O., Giannini, F., Piperno, A., Siciliano, G., Ricci, G., Di Muzio, A., Rigoldi, M., Tonin, P., Croce, M. G., Pegoraro, E., Politano, L., Maggi, L., Telese, R., Lerario, A., Sancricca, C., Vercelli, L., Semplicini, C., Pasanisi, B., Bembi, B., Dardis, A., Palmieri, I., Cereda, C., Valente, E. M., Danesino, C.
مصطلحات موضوعية: exonic variant, genetic modifier, genotype–phenotype correlate, glycogen catabolism, glycogen synthesi, late-onset Pompe disease (LOPD)
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37185710; info:eu-repo/semantics/altIdentifier/wos/WOS:000977779200001; volume:45; issue:4; firstpage:2847; lastpage:2860; numberofpages:14; journal:CURRENT ISSUES IN MOLECULAR BIOLOGY; https://hdl.handle.net/11571/1477494Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85153758430
-
7دورية أكاديمية
المؤلفون: Villa R., Fergnani V. G. C., Silipigni R., Guerneri S., Cinnante C., Guala A., Danesino C., Scola E., Conte G., Fumagalli M., Gangi S., Colombo L., Picciolini O., Ajmone P. F., Accogli A., Madia F., Tassano E., Scala M., Capra V., Srour M., Spaccini L., Righini A., Greco D., Castiglia L., Romano C., Bedeschi M. F.
المساهمون: R. Villa, V.G.C. Fergnani, R. Silipigni, S. Guerneri, C. Cinnante, A. Guala, C. Danesino, E. Scola, G. Conte, M. Fumagalli, S. Gangi, L. Colombo, O. Picciolini, P.F. Ajmone, A. Accogli, F. Madia, E. Tassano, M. Scala, V. Capra, M. Srour, L. Spaccini, A. Righini, D. Greco, L. Castiglia, C. Romano, M.F. Bedeschi
مصطلحات موضوعية: 5p deletion, Brain MRI, Cri-du-chat syndrome, Neuroradiological phenotype, Pontine hypoplasia, Settore MED/38 - Pediatria Generale e Specialistica
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32800423; info:eu-repo/semantics/altIdentifier/wos/WOS:000579769100017; volume:28; firstpage:110; lastpage:119; numberofpages:10; journal:EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY; http://hdl.handle.net/2434/782446Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089357171
-
8دورية أكاديمية
المؤلفون: Rhodes, CJ, Batai, K, Bleda, M, Haimel, M, Southgate, L, Germain, M, Pauciulo, MW, Hadinnapola, C, Aman, J, Girerd, B, Arora, A, Knight, J, Hanscombe, KB, Karnes, JH, Kaakinen, M, Gall, H, Ulrich, A, Harbaum, L, Cebola, I, Ferrer, J, Lutz, K, Swietlik, EM, Ahmad, F, Amouyel, P, Archer, SL, Argula, R, Austin, ED, Badesch, D, Bakshi, S, Barnett, C, Benza, R, Bhatt, N, Bogaard, HJ, Burger, CD, Chakinala, M, Church, C, Coghlan, JG, Condliffe, R, Corris, PA, Danesino, C, Debette, S, Elliott, CG, Elwing, J, Eyries, M, Fortin, T, Franke, A, Frantz, RP, Frost, A, Garcia, JGN, Ghio, S, Ghofrani, H-A, Gibbs, JSR, Harley, J, He, H, Hill, NS, Hirsch, R, Houweling, AC, Howard, LS, Ivy, D, Kiely, DG, Klinger, J, Kovacs, G, Lahm, T, Laudes, M, Machado, RD, Ross, RV, Marsolo, K, Martin, LJ, Moledina, S, Montani, D, Nathan, SD, Newnham, M, Olschewski, A, Olschewski, H, Oudiz, RJ, Ouwehand, WH, Peacock, AJ, Pepke-Zaba, J, Rehman, Z, Robbins, I, Roden, DM, Rosenzweig, EB, Saydain, G, Scelsi, L, Schilz, R, Seeger, W, Shaffer, CM, Simms, RW, Simon, M, Sitbon, O, Suntharalingam, J, Tang, H, Tchourbanov, AY, Thenappan, T, Torres, F, Toshner, MR, Treacy, CM, Noordegraaf, A, Waisfisz, Q, Walsworth, AK, Walter, RE, Wharton, J, White, RJ, Wilt, J, Wort, SJ, Yung, D, Lawrie, A, Humbert, M, Soubrier, F, Trégouët, D-A, Prokopenko, I, Kittles, R, Gräf, S, Nichols, WC, Trembath, RC, Desai, AA, Morrell, NW, Wilkins, MR, Consortium, UK NIHR Bioresource Rare Diseases, Consortium, UK PAH Cohort Study, Consortium, US PAH Biobank, McCarthy, M
العلاقة: https://ora.ox.ac.uk/objects/uuid:eeb6e488-b7f8-45d7-a21b-4e73d0436ef1Test; https://doi.org/10.1016/S2213-2600Test(18)30409-0
الإتاحة: https://doi.org/10.1016/S2213-2600Test(18)30409-0
https://ora.ox.ac.uk/objects/uuid:eeb6e488-b7f8-45d7-a21b-4e73d0436ef1Test -
9دورية أكاديمية
المؤلفون: Taha I., De Paoli F., Foroni S., Zucca S., Limongelli I., Cipolli M., Danesino C., Ramenghi U., Minelli A.
المساهمون: Taha, I., De Paoli, F., Foroni, S., Zucca, S., Limongelli, I., Cipolli, M., Danesino, C., Ramenghi, U., Minelli, A.
مصطلحات موضوعية: KMT2A, SBDS, Shwachman-Diamond Syndrome, dual molecular diagnosis, eVai, whole-exome sequencing, Biological Variation, Population, Human, Siblings, Bone Marrow Diseases, Exocrine Pancreatic Insufficiency, Histone-Lysine N-Methyltransferase, Myeloid-Lymphoid Leukemia Protein
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35893049; info:eu-repo/semantics/altIdentifier/wos/WOS:000846506100001; volume:13; issue:8; firstpage:1314; lastpage:1325; numberofpages:12; journal:GENES; https://hdl.handle.net/11571/1466951Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85135120602; https://doi.org/10.3390/genes13081314Test
-
10دورية أكاديمية
المؤلفون: Gräf, S, Haimel, M, Bleda, M, Hadinnapola, C, Southgate, L, Li, W, Hodgson, J, Liu, B, Salmon, RM, Southwood, M, Machado, RD, Martin, JM, Treacy, CM, Yates, K, Daugherty, LC, Shamardina, O, Whitehorn, D, Holden, S, Aldred, M, Bogaard, HJ, Church, C, Coghlan, G, Condliffe, R, Corris, PA, Danesino, C, Eyries, M, Gall, H, Ghio, S, Ghofrani, H-A, Gibbs, JSR, Girerd, B, Houweling, AC, Howard, L, Humbert, M, Kiely, DG, Kovacs, G, MacKenzie Ross, RV, Moledina, S, Montani, D, Newnham, M, Olschewski, A, Olschewski, H, Peacock, AJ, Pepke-Zaba, J, Prokopenko, I, Rhodes, CJ, Scelsi, L, Seeger, W, Soubrier, F, Stein, DF, Suntharalingam, J, Swietlik, EM, Toshner, MR, van Heel, DA, Vonk Noordegraaf, A, Waisfisz, Q, Wharton, J, Wort, SJ, Ouwehand, WH, Soranzo, N, Lawrie, A, Upton, PD, Wilkins, MR, Trembath, RC, Morrell, NW
وصف الملف: application/pdf; application/vnd.ms-excel
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/109736/1/s41467-018-03672-4.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/109736/7/Graf%20et%20al.%202018%20%28Supplementary%20Info%29.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/109736/12/Description%20of%20additional%20supplementary%20files.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/109736/17/Peer%20review%20file.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/109736/22/Supplementary%20data%202.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/109736/23/Supplementary%20data%201.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/109736/24/Supplementary%20data%203.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/109736/25/Supplementary%20data%204.xlsxTest; Gräf, S; Haimel, M; Bleda, M; Hadinnapola, C; Southgate, L; Li, W; Hodgson, J; Liu, B; Salmon, RM; Southwood, M; et al. Gräf, S; Haimel, M; Bleda, M; Hadinnapola, C; Southgate, L; Li, W; Hodgson, J; Liu, B; Salmon, RM; Southwood, M; Machado, RD; Martin, JM; Treacy, CM; Yates, K; Daugherty, LC; Shamardina, O; Whitehorn, D; Holden, S; Aldred, M; Bogaard, HJ; Church, C; Coghlan, G; Condliffe, R; Corris, PA; Danesino, C; Eyries, M; Gall, H; Ghio, S; Ghofrani, H-A; Gibbs, JSR; Girerd, B; Houweling, AC; Howard, L; Humbert, M; Kiely, DG; Kovacs, G; MacKenzie Ross, RV; Moledina, S; Montani, D; Newnham, M; Olschewski, A; Olschewski, H; Peacock, AJ; Pepke-Zaba, J; Prokopenko, I; Rhodes, CJ; Scelsi, L; Seeger, W; Soubrier, F; Stein, DF; Suntharalingam, J; Swietlik, EM; Toshner, MR; van Heel, DA; Vonk Noordegraaf, A; Waisfisz, Q; Wharton, J; Wort, SJ; Ouwehand, WH; Soranzo, N; Lawrie, A; Upton, PD; Wilkins, MR; Trembath, RC; Morrell, NW (2018) Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. Nat Commun, 9 (1). p. 1416. ISSN 2041-1723 https://doi.org/10.1038/s41467-018-03672-4Test SGUL Authors: Southgate, Laura
الإتاحة: https://doi.org/10.1038/s41467-018-03672-4Test
https://openaccess.sgul.ac.uk/id/eprint/109736Test/
https://openaccess.sgul.ac.uk/id/eprint/109736/1/s41467-018-03672-4.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/109736/7/Graf%20et%20al.%202018%20%28Supplementary%20Info%29.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/109736/12/Description%20of%20additional%20supplementary%20files.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/109736/17/Peer%20review%20file.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/109736/22/Supplementary%20data%202.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/109736/23/Supplementary%20data%201.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/109736/24/Supplementary%20data%203.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/109736/25/Supplementary%20data%204.xlsxTest
