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Mostrati risultati da 59.685 a 59.704 di 98.895
Data di pubblicazione Titolo Autore(i) Tipo File
1-gen-2019 Mutational profile and haematological response to iron chelation in myelodysplastic syndromes (MDS) Fabiani, E; Calabrese, C; Niscola, P; Balleari, E; Molteni, A; Finelli, C; Falconi, G; Fenu, S; Fianchi, L; Criscuolo, M; Salvi, F; Lavorgna, S; Buccisano, F; Maurillo, L; Lo Coco, F; Cilloni, D; Voso, Mt Articolo su rivista
1-gen-2021 Mutational profile of ZBTB16-RARA-positive acute myeloid leukemia Fabiani, E; Cicconi, L; Nardozza, Am; Cristiano, A; Rossi, M; Ottone, T; Falconi, G; Divona, M; Testi, Am; Annibali, O; Castelli, R; Lazarevic, V; Rego, E; Montesinos, P; Esteve, J; Venditti, A; Della Porta, M; Arcese, W; Lo-Coco, F; Voso, Mt Articolo su rivista
1-gen-2003 Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency Akaboshi, S; Hogema, B; Novelletto, A; Malaspina, P; Salomons, G; Maropoulos, G; Jakobs, C; Grompe, M; Gibson, K Articolo su rivista
1-gen-2017 Mutational status of IGHV is the most reliable prognostic marker in trisomy 12 chronic lymphocytic leukemia Bulian, P; Bomben, R; Dal Bo, M; Zucchetto, A; Rossi, Fm; Degan, M; Pozzo, F; Bittolo, T; Bravin, V; D'Agaro, T; Cerri, M; Chiarenza, A; Chaffee, Kg; Condoluci, A; D'Arena, G; Spina, M; Zaja, F; Pozzato, G; Di Raimondo, F; Rossi, D; Del Poeta, G; Gaidano, G; Shanafelt, Td; Gattei, V Articolo su rivista
5-gen-2016 Mutations affecting both the rearranged and the unrearranged PML alleles in refractory acute promyelocytic leukaemia Iaccarino, L; Ottone, T; Divona, M; Cicconi, L; Cairoli, R; Voso, Mt; LO COCO, F Articolo su rivista
1-gen-2003 Mutations arise independently of transcription in non-dividing bacteria Barionovi, D; Ghelardini, P; DI LALLO, G; Paolozzi, L Articolo su rivista
1-gen-2006 Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects Shimomura, K; Girard, C; Proks, P; Nazim, J; Lippiat, J; Cerutti, F; Lorini, R; Ellard, S; Hattersley, A; Barbetti, F; Ashcroft, F Articolo su rivista
1-gen-2015 Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies Niceta, M; Stellacci, E; Gripp, K; Zampino, G; Kousi, M; Anselmi, M; Traversa, A; Ciolfi, A; Stabley, D; Bruselles, A; Caputo, V; Cecchetti, S; Prudente, S; Fiorenza, M; Boitani, C; Philip, N; Niyazov, D; Leoni, C; Nakane, T; Keppler Noreuil, K; Braddock, S; Gillessen Kaesbach, G; Palleschi, A; Campeau, P; Lee, B; Pouponnot, C; Stella, L; Bocchinfuso, G; Katsanis, N; Sol Church, K; Tartaglia, M Articolo su rivista
1-gen-2009 Mutations in hIAPP and NEUROG3 genes are not a common cause of permanent neonatal/infancy/childhood onset diabetes. Nocerino, V; Colombo, C; Bonfanti, R; Iafusco, D; Barbetti, F Articolo su rivista
1-mag-2004 Mutations in HIV-1 reverse transcriptase potentially associated with hypersusceptibility to nonnucleoside reverse-transcriptase inhibitors: effect on response to efavirenz-based therapy in an urban observational cohort Tozzi, V; Zaccarelli, M; Narciso, P; Trotta, M; CECCHERINI SILBERSTEIN, F; De Longis, P; D'Offizi, G; Forbici, F; D'Arrigo, R; Boumis, E; Bellagamba, R; Bonfigli, S; Carvelli, C; Antinori, A; Perno, Cf Articolo su rivista
1-gen-2015 Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome Kortum, F; Caputo, V; Bauer, C; Stella, L; Ciolfi, A; Alawi, M; Bocchinfuso, G; Flex, E; Paolacci, S; Dentici, M; Grammatico, P; Korenke, G; Leuzzi, V; Mowat, D; Nair, L; Nguyen, T; Thierry, P; White, S; Dallapiccola, B; Pizzuti, A; Campeau, P; Tartaglia, M; Kutsche, K Articolo su rivista
1-gen-2018 Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome Bauer, Ck; Calligari, P; Radio, Fc; Caputo, V; Dentici, Ml; Falah, N; High, F; Pantaleoni, F; Barresi, S; Ciolfi, A; Pizzi, S; Bruselles, A; Person, R; Richards, S; Cho, Mt; Claps Sepulveda, Dj; Pro, S; Battini, R; Zampino, G; Digilio, Mc; Bocchinfuso, G; Dallapiccola, B; Stella, L; Tartaglia, M Articolo su rivista
1-gen-2014 Mutations in PAX2 associate with adult-onset FSGS Barua, M; Stellacci, E; Stella, L; Weins, A; Genovese, G; Muto, V; Caputo, V; Toka, H; Charoonratana, V; Tartaglia, M; Pollak, M Articolo su rivista
1-gen-2010 Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome Woellner, C; Gertz, E; Schäffer, A; Lagos, M; Perro, M; Glocker, E; Pietrogrande, M; Cossu, F; Franco, J; Matamoros, N; Pietrucha, B; Heropolitańska-Pliszka, E; Yeganeh, M; Moin, M; Español, T; Ehl, S; Gennery, A; Abinun, M; Breborowicz, A; Niehues, T; Kilic, S; Junker, A; Turvey, S; Plebani, A; Sánchez, B; Garty, B; Pignata, C; Cancrini, C; Litzman, J; Sanal, O; Baumann, U; Bacchetta, R; Hsu, A; Davis, J; Hammarström, L; Davies, E; Eren, E; Arkwright, P; Moilanen, J; Viemann, D; Khan, S; Maródi, L; Cant, A; Freeman, A; Puck, J; Holland, S; Grimbacher, B Articolo su rivista
1-mag-1993 Mutations in the 3A genomic region of two cytopathic strains of hepatitis A virus isolated in Italy Morace, G; Pisani, G; Beneduce, F; Divizia, M; Pana', A Articolo su rivista
1-gen-2017 Mutations in the 3′ untranslated region of NOTCH1 are associated with low CD20 expression levels in chronic lymphocytic leukemia Bittolo, T; Pozzo, F; Bomben, R; D'Agaro, T; Bravin, V; Bulian, P; Rossi, Fm; Zucchetto, A; Degan, M; Macor, P; D'Arena, G; Chiarenza, A; Zaja, F; Pozzato, G; Di Raimondo, F; Rossi, D; Gaidano, G; Del Poeta, G; Gattei, V; Dal Bo, M Articolo su rivista
1-feb-2012 Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12 Montenegro, G; Rebelo, A; Connell, J; Allison, R; Babalini, C; D'Aloia, M; Montieri, P; Schüle, R; Ishiura, H; Price, J; Strickland, A; Gonzalez, M; Baumbach Reardon, L; Deconinck, T; Huang, J; Bernardi, G; Vance, J; Rogers, M; Tsuji, S; De Jonghe, P; Pericak Vance, M; Schöls, L; Orlacchio, A; Reid, E; Züchner, S Articolo su rivista
1-gen-1992 Mutations in the insulin receptor gene in patients with genetic syndromes of insulin resistance and acanthosis nigricans Accili, D; Barbetti, F; Cama, A; Kadowaki, H; Kadowaki, T; Imano, E; Levy-Toledano, R; Taylor, Si Articolo su rivista
1-gen-1992 MUTATIONS IN THE INSULIN-RECEPTOR GENE Taylor, S; Cama, A; Accili, D; Barbetti, F; Quon, M; Sierra, M; Suzuki, Y; Koller, E; Levytoledano, R; Wertheimer, E; Moncada, V; Kadowaki, H; Kadowaki, T Articolo su rivista
1-ott-2001 Mutations in the open reading frame of the beta-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease Nicolaou, M; Song, Y; Sato, C; Orlacchio, A; Kawarai, T; Medeiros, H; Liang, Y; Sorbi, S; Richard, E; Rogaev, E; Moliaka, Y; Bruni, A; Jorge, R; Percy, M; Duara, R; Farrer, L; St Georg Hyslop, P; Rogaeva, E Articolo su rivista
Mostrati risultati da 59.685 a 59.704 di 98.895
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