Sfoglia per Titolo

Opzioni
Vai a: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Mostrati risultati da 103.837 a 103.856 di 171.625
Titolo Data di pubblicazione Autore(i) File
Mutations in DSTYK and dominant urinary tract malformations 1-gen-2013 Sanna Cherchi, S; Sampogna, Rv; Papeta, N; Burgess, Ke; Nees, Sn; Perry, Bj; Choi, M; Bodria, M; Liu, Y; Weng, Pl; Lozanovski, Vj; Verbitsky, M; Lugani, F; Sterken, R; Paragas, N; Caridi, G; Carrea, A; Dagnino, M; Materna Kiryluk, A; Santamaria, G; Murtas, C; Ristoska Bojkovska, N; Izzi, C; Kacak, N; Bianco, B; Giberti, S; Gigante, M; Piaggio, G; Gesualdo, L; Kosuljandic Vukic, D; Vukojevic, K; Saraga Babic, M; Saraga, M; Gucev, Z; Allegri, L; Latos Bielenska, A; Casu, D; State, M; Scolari, F; Ravazzolo, Roberto; Kiryluk, K; Al Awqati, Q; D'Agati, Vd; Drummond, Ia; Tasic, V; Lifton, Rp; Ghiggeri, Gm; Gharavi, Ag
Mutations in glycine N-methyltransferase give insight into its role in methionine metabolism 1-gen-2002 Luka, Z; Cerone, Roberto; Phillips, Ja; Mudd, Sh; Wagner, C.
Mutations in GMPPB Presenting with Pseudometabolic Myopathy 1-gen-2017 Panicucci, Chiara; Fiorillo, Chiara; Moro, Francesca; Astrea, Guja; Brisca, Giacomo; Trucco, Federica; Pedemonte, Marina; Lanteri, Paola; Sciarretta, Lucia; Minetti, Carlo; Santorelli, Filippo M; Bruno, Claudio
Mutations in KCNT1 cause a spectrum of focal epilepsies 1-gen-2015 Møller, Rikke S.; Heron, Sarah E.; Larsen, Line H. G.; Lim, Chiao Xin; Ricos, Michael G.; Bayly, Marta A.; Van Kempen, Marjan J. A.; Klinkenberg, Sylvia; Andrews, Ian; Kelley, Kent; Ronen, Gabriel M.; Callen, David; Mcmahon, Jacinta M.; Yendle, Simone C.; Carvill, Gemma L.; Mefford, Heather C.; Nabbout, Rima; Poduri, Annapurna; Striano, Pasquale; Baglietto, MARIA GIUSEPPINA; Zara, Federico; Smith, Nicholas J.; Pridmore, Clair; Gardella, Elena; Nikanorova, Marina; Dahl, Hans Atli; Gellert, Pia; Scheffer, Ingrid E.; Gunning, Boudewijn; Kragh Olsen, Bente; Dibbens, Leanne M.
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. 1-gen-2000 Netchine, I; Sobrier, Ml; Krude, H; Schnabel, D; Maghnie, Mohamad; Marcos, E; Duriez, B; Cacheux, V; Moers, A; Goossens, M; Grüters, A; Amselem, S.
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis 1-gen-2009 Aiello, C; Terracciano, A; Simonati, A; Discepoli, G; Cannelli, N; Claps, D; Crow, Yj; Bianchi, M; Kitzmuller, C; Longo, D; Tavoni, A; Franzoni, E; Tessa, A; Veneselli, EDVIGE MARIA; Boldrini, R; Filocamo, M; Williams, Re; Bertini, Es; Biancheri, R; Carrozzo, R; Mole, Se; Santorelli, Fm
Mutations in MICAL-1cause autosomal-dominant lateral temporal epilepsy 1-gen-2018 Dazzo, E.; Rehberg, K.; Michelucci, R.; Passarelli, D.; Boniver, C.; Vianello Dri, V.; Striano, P.; Striano, S.; Pasterkamp, R. J.; Nobile, C.
Mutations in MTMR13, a new pseudo-phosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early onset glaucoma 1-gen-2003 Azzedine, H; Bolino, A; Taieb, T; Birouk, N; DI DUCA, M; Bouhouche, A; Benamou, S; Mrabet, A; Hammadouche, T; Chkili, T; Goudier, R; Ravazzolo, Roberto; Brice, A; Laporte, J; LE GUERN, E.
Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia. 1-gen-2005 Di Leo, E; Lancellotti, S; Penacchioni, Jy; Cefalù, Ab; Averna, M; Pisciotta, Livia; Bertolini, Stefano; Calandra, S; Gabelli, C; Tarugi, P.
Mutations in MYH9 in May-Hegglin anomaly, and Fechtner and Sebastian syndromes 1-gen-2000 Seri, M; Cusano, R; Gangarossa, S; Caridi, G; Bordo, D; LO NIGRO, C; Ghiggeri, Gm; Ravazzolo, Roberto; Savino, M; DEL VECCHIO, M; D'Apolito, M; Iolascon, A; Zelante, Ll; Savoia, A; Balduini, Cl; Noris, P; Magrini, U; Belletti, S; Heath, Ke; Babcock, M; Glucksman, Mj; Aliprandis, E; Bizzaro, N; Desnick, Rj; Martignetti, J. A.
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. 1-gen-2010 Gimelli, S; Caridi, G; Beri, S; Mccracken, K; Bocciardi, Renata; Zordan, P; Dagnino, M; Fiorio, P; Murer, L; Benetti, E; Zuffardi, O; Giorda, R; Wells, Jm; Gimelli, G; Ghiggeri, G. M.
Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III 1-gen-2000 Ruetschi, U.; Cerone, Roberto; PÉREZ CERDA, C.; Schiaffino, M. C.; Standing, S.; Ugarte, M.; Holme, E.
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. 1-gen-1998 Minetti, Carlo; Sotgia, F; Bruno, C; Scartezzini, P; Broda, P; Bado, M; Masetti, E; Mazzocco, M; Egeo, A; Donati, Ma; Volonté, D; Galbiati, F; Cordone, G; DAGNA BRICARELLI, F; Lisanti, Mp; Zara, F.
Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures 1-gen-2015 Carvill, Gemma L; Mcmahon, Jacinta M.; Schneider, Amy; Zemel, Matthew; Myers, Candace T.; Saykally, Julia; Nguyen, John; Robbiano, Angela; Zara, Federico; Specchio, Nicola; Mecarelli, Oriano; Smith, Robert L.; Leventer, Richard J.; Møller, Rikke S.; Nikanorova, Marina; Dimova, Petia; Jordanova, Albena; Petrou, Steven; Helbig, Ingo; Striano, Pasquale; Weckhuysen, Sarah; Berkovic, Samuel F.; Scheffer, Ingrid E.; Mefford, Heather C.
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment 1-gen-2019 Salpietro, Vincenzo; Malintan, Nancy T; Llano-Rivas, Isabel; Spaeth, Christine G; Efthymiou, Stephanie; Striano, Pasquale; Vandrovcova, Jana; Cutrupi, Maria C; Chimenz, Roberto; David, Emanuele; Di Rosa, Gabriella; Marce-Grau, Anna; Raspall-Chaure, Miquel; Martin-Hernandez, Elena; Zara, Federico; Minetti, Carlo; Bello, Oscar D; De Zorzi, Rita; Fortuna, Sara; Dauber, Andrew; Alkhawaja, Mariam; Sultan, Tipu; Mankad, Kshitij; Vitobello, Antonio; Thomas, Quentin; Mau-Them, Frederic Tran; Faivre, Laurence; Martinez-Azorin, Francisco; Prada, Carlos E; Macaya, Alfons; Kullmann, Dimitri M; Rothman, James E; Krishnakumar, Shyam S; Houlden, Henry; Salpietro, Vincenzo; Efthymiou, Stephanie; Kriouile, Yamna; El Khorassani, Mohamed; Aguennouz, Mhammed; Karashova, Blagovesta; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Van Maldergem, Lionel; Nachbauer, Wolfgang; Boesch, Sylvia; Arning, Larissa; Timmann, Dagmar; Cormand, Bru; Pérez-Dueñas, Belen; Di Rosa, Gabriella; Pironti, Erica; Goraya, Jatinder S; Sultan, Tipu; Kirmani, Salman; Ibrahim, Shahnaz; Jan, Farida; Mine, Jun; Banu, Selina; Veggiotti, Pierangelo; Ferrari, Michel D; Verrotti, Alberto; Marseglia, Gian Luigi; Savasta, Salvatore; Garavaglia, Barbara; Scuderi, Carmela; Borgione, Eugenia; Dipasquale, Valeria; Cutrupi, Maria Concetta; Portaro, Simona; Sanchez, Benigno Monteagudo; Pineda-Marfa’, Mercedes; Munell, Francina; Macaya, Alfons; Boles, Richard; Heimer, Gali; Papacostas, Savvas; Manole, Andreea; Malintan, Nancy; Zanetti, Maria Natalia; Hanna, Michael G; Rothman, James E; Kullmann, Dimitri M; Houlden, Henry.
Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis. 1-gen-2010 S. J., Vastert; R. v., Wijk; L. E., D'Urbano; K. M., K.; W. d., Jager; Ravelli, Angelo; S., Magni Manzoni; A., Insalaco; E., Cortis; W. W., Van; B. J., Prakken; N. M., Wulffraat; F. d., Benedetti; W., Kuis
Mutations in TMEM230 are not a common cause of Parkinson's disease 1-gen-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 in XPR1 cause primary familial brain calcification associated with altered phosphate export 1-gen-2015 Legati, Andrea; Giovannini, Donatella; Nicolas, Gaël; López Sánchez, Uriel; Quintáns, Beatriz; Oliveira, João R. M; Sears, Renee L; Ramos, Eliana Marisa; Spiteri, Elizabeth; Sobrido, María Jesús; Carracedo, Ángel; Castro Fernández, Cristina; Cubizolle, Stéphanie; Fogel, Brent L; Goizet, Cyril; Jen, Joanna C; Kirdlarp, Suppachok; Lang, Anthony E; Miedzybrodzka, Zosia; Mitarnun, Witoon; Paucar, Martin; Paulson, Henry; Pariente, Jérémie; Richard, Anne Claire; Salins, Naomi S; Simpson, Sheila A; Striano, Pasquale; Svenningsson, Per; Tison, François; Unni, Vivek K; Vanakker, Olivier; Wessels, Marja W; Wetchaphanphesat, Suppachok; Yang, Michele; Boller, Francois; Campion, Dominique; Hannequin, Didier; Sitbon, Marc; Geschwind, Daniel H; Battini, Jean Luc; Coppola, Giovanni
Mutazione Leiden per il Fattore V e perdita precoce dell’innesto nel trapianto di fegato. Casistica di un Centro Trapianti. 1-gen-2002 Barocci, S; Fiordoro, S; Santori, Gregorio; Morelli, N; Antonelli, P; Valente, Umberto; Andorno, E; Nocera, A.
La mutazione nelle cellule somatiche 1-gen-2004 Abbondandolo, A.; Viaggi, Silvia
Mostrati risultati da 103.837 a 103.856 di 171.625
Legenda icone

  •  file ad accesso aperto
  •  file disponibili sulla rete interna
  •  file disponibili agli utenti autorizzati
  •  file disponibili solo agli amministratori
  •  file sotto embargo
  •  nessun file disponibile