IRIS

Sfoglia per Rivista  AMERICAN JOURNAL OF HUMAN GENETICS

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 1 a 20 di 36
Titolo Data di pubblicazione Autore(i) File
A "static" karyotype in epithelial cancer cell lines despite ongoing chromsomal instability 1-gen-2000 Roschke, Av; Stover, K; Tonon, G; Schaffer, Aa; Kirsch, Ir
A combined population and family-based study of eight European populations demonstrates association between BDNF and eating disorders. 1-gen-2003 Ribases, M; Gratacos, M; Fernandez Aranda, F; Cellini, E; Nacmias, B; Sorbi, S; Di Bella, D; Bellodi, Laura; Gorwood, P; Kipman, A; Mouren Simeoni, Mc; Hebebrand, J; Hinney, A; Remschmidt, H; Karwautz, A; Brecejl, M; Gabrovsek, M; Collier, D; Treasure, J; Estivill, X.
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. 1-gen-2001 Muglia, M; Magariello, A; Nicoletti, G; Patitucci, A; Gabriele, Al; Conforti, Fl; Mazzei, R; Casari, GIORGIO NEVIO; Ardito, B; Lastilla, M; Mangone, L; Gambardella, A; Quattrone, A.
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3 1-gen-1998 De Michele, G; De Fusco, M; Cavalcanti, F; Filla, A; Marconi, R; Volpe, G; Monticelli, A; Ballabio, A; Casari, GIORGIO NEVIO; Cocozza, S.
A reduced activity of the Na-K ATPase is responsible for familial hemiplegic migraine 1-gen-2003 Casari, G; De Fusco, M; Aridon, P; Silvestri, L; Atorino, L; Rampoldi, L; Ballabio, A; Marconi, R
An approach for screening of Hereditary Hyperferritinemia Cataract Syndrome (HHCS) by a new DG-DGGE method for rapid mutational scanning in ferritin L-chain IRE. 1-gen-1999 Cremonesi, L; Fumagalli, A; Soriani, N; Ferrari, Maurizio; Tinazzi, E; Camparini, M; Aldigeri, R; Girelli, D; Arosio, P; Levi, SONIA MARIA ROSA
Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study 1-gen-1991 Consalez, GIAN GIACOMO; Thomas, Ns; Stayton, Cl; Knight, Sj; Johnson, M; Hopkins, Lc; Harper, Ps; Elsas, Lj; Warren, St
Correlating array CGH with gene expression and sensitivity to drugs in a panel of 60 human cancer cell lines 1-gen-2002 Bussey, K; Chin, K; Reinhold, Wc; Lababidi, S; Gwadry, F; Scherf, U; Ajay, ; Tonon, G; Roschke, A; Stover, K; Kirsch, I; Scudiero, Da; Gray, Jw; Weinstein, Jn
DHPLC analysis of unrelated CMT patients in the Myotubularin related 2 gene, MTMR2, responsible for Charcot-Marie-Tooth disease type 4B 1-gen-2000 Bolino, A; Lonie, L; Zimmer, M; Boerkoel, Cf; Monaco, Ap; Lupski, Jr
Flexing DNA: HMG-box proteins and their partners 1-gen-1998 Beltrame, M.; Bianchi, MARCO EMILIO
Genetic history of PKU mutations in Italy 1-gen-1994 Dianzani, I; Giannattasio, S; De Sanctis, L; Marra, E; Ponzone, A; Camaschella, Clara; Piazza, A.
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22 1-gen-1999 Bolino, A; Levy, Er; Muglia, M; Conforti, Fl; Gambardella, A; Le Guern, E; Christodoulou, K; Quattrone, A; Devoto, M; Monaco, Ap
Heterozygotes identification by chemical cleavage of mismatch 1-gen-1991 Dianzani, I; Forrest, Sm; Camaschella, Clara; Gottardi, E; Cotton, Rgh
HOMOZYGOSITY MAPPING OF A NEW FORM OF HMSN - AUTOSOMAL RECESSIVE HYPERMYELINATING NEUROPATHY 1-gen-1995 Bolino, A; Brancolini, V; Quattrone, A; Gambardella, A; Romeo, G; Devoto, M
Identification and characterisation of the gene for chorea-acanthocytosis 1-gen-2001 Rampoldi, L; Dobson-Stone, C; Rubio, Jp; Danek, A; Nemeth, Ah; Monaco, Ap
Identification of a new locus for medullary cystic disease, on chromosome 16p12 1-gen-1999 Scolari, F; Puzzer, D; Amoroso, A; Caridi, G; Ghiggeri, Gm; Maiorca, R; Aridon, P; De Fusco, M; Ballabio, A; Casari, GIORGIO NEVIO
Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study 1-gen-2021 Ortiz-Fernandez, L.; Saruhan-Direskeneli, G.; Alibaz-Oner, F.; Kaymaz-Tahra, S.; Coit, P.; Kong, X.; Kiprianos, A. P.; Maughan, R. T.; Aydin, S. Z.; Aksu, K.; Keser, G.; Kamali, S.; Inanc, M.; Springer, J.; Akar, S.; Onen, F.; Akkoc, N.; Khalidi, N. A.; Koening, C.; Karadag, O.; Kiraz, S.; Forbess, L.; Langford, C. A.; Mcalear, C. A.; Ozbalkan, Z.; Yavuz, S.; Cetin, G. Y.; Alpay-Kanitez, N.; Chung, S.; Ates, A.; Karaaslan, Y.; McKinnon-Maksimowicz, K.; Monach, P. A.; Ozer, H. T. E.; Seyahi, E.; Fresko, I.; Cefle, A.; Seo, P.; Warrington, K. J.; Ozturk, M. A.; Ytterberg, S. R.; Cobankara, V.; Onat, A. M.; Duzgun, N.; Bicakcigil, M.; Yentur, S. P.; Lally, L.; Manfredi, A. A.; Baldissera, E.; Erken, E.; Yazici, A.; Kisacik, B.; Kasifoglu, T.; Dalkilic, E.; Cuthbertson, D.; Pagnoux, C.; Sreih, A.; Reales, G.; Wallace, C.; Wren, J. D.; Cunninghame-Graham, D. S.; Vyse, T. J.; Sun, Y.; Chen, H.; Grayson, P. C.; Tombetti, E.; Jiang, L.; Mason, J. C.; Merkel, P. A.; Direskeneli, H.; Sawalha, A. H.
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear 1-gen-2006 Aridon, P; Marini, C; DI RESTA, Chiara; Brilli, E; De Fusco, M; Politi, F; Parrini, E; Manfredi, I; Pisano, T; Pruna, D; Curia, G; Cianchetti, C; Pasqualetti, M; Becchetti, A; Guerrini, R; Casari, GIORGIO NEVIO
Involvement of the HLXB9 Homeobox Gene in Currarino Syndrome 1-gen-2000 Belloni, E.; Martucciello, G.; Verderio, D.; Ponti, E.; Seri, M.; Jasonniv, ; Torre, M.; Ferrari, Maurizio; Tsui, L. C.; Scherer, S.
Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population 1-gen-2003 Rivard, Sr; Lanzara, C; Grimard, D; Carella, M; Simard, H; Ficarella, R; Simard, R; D'Adamo, Ap; Ferec, C; Camaschella, Clara; Mura, C; Roetto, A; DE BRAEKELEER, M; Bechner, L; Gasparini, P.
Mostrati risultati da 1 a 20 di 36
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