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Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. 2011 A., Sirmaci; M., Spiliopoulos; Brancati, Francesco; E., Powell; D., Duman; A., Abrams; G., Bademci; E., Agolini; S., Guo; B., Konuk; A., Kavaz; S., Blanton; M. C., Digilio; B., Dallapiccola; J., Young; S., Zuchner; M., Tekin
Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome 2014 Hussain, Muhammad Sajid; Battaglia, Agatino; Szczepanski, Sandra; Kaygusuz, Emrah; Toliat, Mohammad Reza; Sakakibara, Shin Ichi; Altmüller, Janine; Thiele, Holger; Nürnberg, Gudrun; Moosa, Shahida; Yigit, Gökhan; Beleggia, Filippo; Tinschert, Sigrid; Clayton Smith, Jill; Vasudevan, Pradeep; Urquhart, Jill E.; Donnai, Dian; Fryer, Alan; Percin, Ferda; Brancati, Francesco; Dobbie, Angus; ͆migiel, Robert; Gillessen Kaesbach, Gabriele; Wollnik, Bernd; Anna Noegel, Angelika; Newman, William G.; Nürnberg, Peter
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 2009 Bielas, Sl; Silhavy, Jl; Brancati, Francesco; Kisseleva, Mv; Al Gazali, L; Sztriha, L; Bayoumi, Ra; Zaki, Ms; Abdel Aleem, A; Rosti, Ro; Kayserili, H; Swistun, D; Scott, Lc; Bertini, E; Boltshauser, E; Fazzi, E; Travaglini, L; Field, Sj; Gayral, S; Jacoby, M; Schurmans, S; Dallapiccola, B; Majerus, Pw; Valente, Em; Gleeson, Jg
Mutations in insulin-receptor gene in insulin-resistant patients 1990 Taylor, Si; Kadowaki, T; Kadowaki, H; Accili, D; Cama, Alessandro; Mckeon, C.
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. 2010 Brancati, Francesco; Fortugno, P; Bottillo, I; Lopez, M; Josselin, E; Boudghene Stambouli, O; Agolini, E; Bernardini, L; Bellacchio, E; Iannicelli, M; Rossi, A; Dib Lachachi, A; Stuppia, Liborio; Palka, Giandomenico; Mundlos, S; Stricker, S; Kornak, U; Zambruno, G; Dallapiccola, B.
Mutations in PYCR1 cause cutis laxa with progeroid features. 2009 Reversade, B; Escande Beillard, N; Dimopoulou, A; Fischer, B; Chng, Sc; Li, Y; Shboul, M; Tham, Py; Kayserili, H; Al Gazali, L; Shahwan, M; Brancati, Francesco; Lee, H; O'Connor, Bd; Schmidt von Kegler, M; Merriman, B; Nelson, Sf; Masri, A; Alkazaleh, F; Guerra, D; Ferrari, P; Nanda, A; Rajab, A; Markie, D; Gray, M; Nelson, J; Grix, A; Sommer, A; Savarirayan, R; Janecke, Ar; Steichen, E; Sillence, D; Hausser, I; Budde, B; Nürnberg, G; Nürnberg, P; Seemann, P; Kunkel, D; Zambruno, G; Dallapiccola, B; Schuelke, M; Robertson, S; Hamamy, H; Wollnik, B; Van Maldergem, L; Mundlos, S; Kornak, U.
Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome. 2006 Valente, Em; Silhavy, Jl; Brancati, Francesco; Barrano, G; Krishnaswami, Sr; Castori, M; Lancaster, Ma; Boltshauser, E; Boccone, L; AL GAZALI, L; Fazzi, E; Signorini, S; Louie, Cm; Bellacchio, E; Bertini, E; DALLA PICCOLA, B; Jg, Gleeson
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome 2008 Cantagrel, V; Silhavy, Jl; Bielas, Sl; Swistun, D; Marsh, Se; Bertrand, Jy; Audollent, S; ATTIÉ BITACH, T; Holden, Kr; Dobyns, Wb; Traver, D; AL GAZALI, L; Ali, Br; Lindner, Th; Caspary, T; Otto, Ea; Hildebrandt, F; Glass, Ia; Logan, Cv; Johnson, Ca; Bennett, C; Brancati, Francesco; Valente, Em; Woods, Cg; Gleeson, Jg
Mutations in the insulin receptor gene 1992 Taylor, Si; Cama, Alessandro; Accili, D; Barbetti, F; Quon, Mj; Sierra, Ml; Suzuki, Y; Koller, E; Levy Toledano, R; Wertheimer, E; Moncada, Vy; Kadowaki, H; Kadowaki, T.
Mutations in the insulin receptor gene in genetic forms of insulin resistance 1990 Taylor, Si; Kadowaki, T; Accili, D; Cama, Alessandro; Kadowaki, H; Mckeon, C; Moncada, V; Marcus Samuels, B; Bevins, C; Ojamaa, K; Frapier, C; Beitz, L; Perrotti, N; Rees Jones, R; Margolis, R; Imano, E; Najjar, S; Courtney, F; Arakaki, R; Gorden, P; Roth, J.
Mutations in the insulin receptor gene in patients with genetic syndromes of insulin resistance 1991 Taylor, Si; Accili, D; Cama, Alessandro; Kadowaki, H; Kadowaki, T; Imano, E; Sierra, Ml
Mutations in the insulin receptor gene in patients with genetic syndromes of insulin resistance and acanthosis nigricans 1992 Accili, D; Barbetti, F; Cama, Alessandro; Kadowaki, H; Kadowaki, T; Imano, E; Levy Toledano, R; Taylor, S. I.
Mutations in the NHEJ component XRCC4 cause primordial dwarfism 2015 Murray, Jennie E; Van Der Burg, Mirjam; Ijspeert, Hanna; Carroll, Paula; Wu, Qian; Ochi, Takashi; Leitch, Andrea; Miller, Edward S.; Kysela, Boris; Jawad, Alireza; Bottani, Armand; Brancati, Francesco; Cappa, Marco; Cormier Daire, Valerie; Deshpande, Charu; Faqeih, Eissa A.; Graham, Gail E.; Ranza, Emmanuelle; Blundell, Tom L.; Jackson, Andrew P.; Stewart, Grant S.; Bicknell, Louise S.
Mutations in the p53 and Ki-ras genes, microsatellite instability and site of tumor origin in colorectal cancer 2005 Catalano, T; Curia, Maria Cristina; Aceto, Gitana; Verginelli, Fabio; Cascinu, S; Cama, Alessandro; MARIANI COSTANTINI, Renato; Teti, D; Battista, Pasquale
Mutations in the SPAST gene causing hereditary spastic paraplegia are related to global topological alterations in brain functional networks 2019 Rucco, Rosaria; Liparoti, Marianna; Jacini, Francesca; Baselice, Fabio; Antenora, Antonella; De Michele, Giuseppe; Criscuolo, Chiara; Vettoliere, Antonio; Mandolesi, Laura; Sorrentino, Giuseppe; Sorrentino, Pierpaolo
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 2010 Valente, Em; Logan, Cv; Mougou Zerelli, S; Lee, Jh; Silhavy, Jl; Brancati, Francesco; Iannicelli, M; Travaglini, L; Romani, S; Illi, B; Adams, M; Szymanska, K; Mazzotta, A; Lee, Je; Tolentino, Jc; Swistun, D; Salpietro, Cd; Fede, C; Gabriel, S; Russ, C; Cibulskis, K; Sougnez, C; Hildebrandt, F; Otto, Ea; Held, S; Diplas, Bh; Davis, Ee; Mikula, M; Strom, Cm; Ben Zeev, B; Lev, D; Sagie, Tl; Michelson, M; Yaron, Y; Krause, A; Boltshauser, E; Elkhartoufi, N; Roume, J; Shalev, S; Munnich, A; Saunier, S; Inglehearn, C; Saad, A; Alkindy, A; Thomas, S; Vekemans, M; Dallapiccola, B; Katsanis, N; Johnson, Ca; Attié Bitach, T; Gleeson, Jg
Mutations in TMEM230 are not a common cause of Parkinson's disease 2017 Quadri, Marialuisa; Breedveld, Guido J; Chang, Hsiu-Chen; Yeh, Tu-Hsueh; Guedes, Leonor Correia; Toni, Vincenzo; Fabrizio, Edito; De Mari, Michele; Thomas, Astrid; Tassorelli, Cristina; Rood, Janneke P M A; Saddi, Valeria; Chien, Hsin Fen; Kievit, Anneke J A; Boon, Agnita J W; Stocchi, Fabrizio; Lopiano, Leonardo; Abbruzzese, Giovanni; Cortelli, Pietro; Meco, Giuseppe; Cossu, Giovanni; Barbosa, Egberto Reis; Ferreira, Joaquim J; Lu, Chin-Song; Bonifati, Vincenzo
Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli 2005 Aceto, Gitana; Curia, Maria Cristina; Veschi, Serena; DE LELLIS, Laura; Mammarella, Sandra; Catalano, T.; Stuppia, Liborio; Palka, Giandomenico; Valanzano, R.; Tonelli, F.; Casale, V.; Stigliano, V.; Cetta, F.; Battista, Pasquale; MARIANI COSTANTINI, Renato; Cama, Alessandro
Mutations of IRF6 Gene Associated with Van Der Woude Syndrome 2010 Tete', Stefano; M., Tranasi; F., Mastrangelo; A. P., Scioletti; Brancati, Francesco; Gatta, Valentina; Antonucci, Ivana; B., Peissel; C., Mortellaro; Palka, Giandomenico; Stuppia, Liborio
Mutations of the human insulin receptor gene 1990 Taylor, Si; Cama, Alessandro; Kadowaki, H; Kadowaki, T; Accili, D.
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