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Authors:
Smith, Bradley N
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Ticozzi, Nicola
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Calini, Daniela
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Vance, Caroline
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Danielson, Eric W
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Troakes, Claire
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Tiloca, Cinzia
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Al-Sarraj, Safa
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Lewis, Elizabeth A
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King, Andrew
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Colombrita, Claudia
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Pensato, Viviana
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Fallini, Claudia
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Castellotti, Barbara
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de Belleroche, Jacqueline
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Baas, Frank
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ten Asbroek, Anneloor L. M. A
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Sapp, Peter C
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McKenna-Yasek, Diane
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McLaughlin, Russell L
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Polak, Meraida
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Asress, Seneshaw
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Esteban-Peréz, Jesús
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Gkazi, Athina Soragia
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Munoz-Blanco, Jose Luis
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Simpson, Michael
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van Rheenen, Wouter
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Diekstra, Frank P
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Lauria, Giuseppe
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Duga, Stefano
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Corti, Stefania
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Cereda, Cristina
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Corrado, Lucia
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Sorarù, Gianni
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Topp, Simon
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Morrison, Karen E
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Williams, Kelly L
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Nicholson, Garth A
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Blair, Ian P
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Dion, Patrick A
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Leblond, Claire S
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Rouleau, Guy A
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Hardiman, Orla
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Veldink, Jan H
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van den Berg, Leonard H
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Kenna, Kevin P
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Al-Chalabi, Ammar
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Pall, Hardev
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Shaw, Pamela J
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Turner, Martin R
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Talbot, Kevin
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Taroni, Franco
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Garcia-Redondo, Alberto
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Wu, Zheyang
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Glass, Jonathan D
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Gellera, Cinzia
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Scotter, Emma L
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Ratti, Antonia
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Brown Jr., Robert H
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Silani, Vincenzo
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Shaw, Christopher E
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Landers, John E
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D'Alfonso, Sandra
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Mazzini, Letizia
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Comi, Giacomo P
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Del Bo, Roberto
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Ceroni, Mauro
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Kost, Jason
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Gagliardi, Stella
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Querin, Giorgia
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Bertolin, Cinzia
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Keagle, Pamela
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Miller, Jack W
Date: 2014
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/343716
Description:
Exome sequencing is an effective strategy for identifying human disease genes. However, this methodology is difficult in late-onset diseases where limited availability of DNA from informative family m
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Authors:
Turner, Martin R
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Hardiman, Orla
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Nicholson, Garth
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Ravits, John
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Shaw, Pamela J
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Swash, Michael
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Talbot, Kevin
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Traynor, Brian J
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Van den Berg , Leonard H
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Veldink, Jan H
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Vucic, Steve
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Kiernan, Matthew C
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Benatar, Michael
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Brooks, Benjamin R
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Chio, Adriano
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de Carvalho, Mamede
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Ince, Paul G
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Lin, Cindy
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Miller, Robert G
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Mitsumoto, Hiroshi
Date: 2013
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/314741
Description:
Two decades after the discovery that 20% of familial amyotrophic lateral sclerosis (ALS) cases were linked to mutations in the superoxide dismutase-1 (SOD1) gene, a substantial proportion of the remai
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Reviewed:
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