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NEK1 variants confe...
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
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Kenna, Kevin P. (author)
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van Doormaal, Perry T. C. (author)
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Dekker, Annelot M. (author)
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Ticozzi, Nicola (author)
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Kenna, Brendan J. (author)
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Diekstra, Frank P. (author)
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van Rheenen, Wouter (author)
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van Eijk, Kristel R. (author)
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Jones, Ashley R. (author)
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Keaglel, Pamela (author)
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Shatunov, Aleksey (author)
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Sproviero, William (author)
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Smiths, Bradley N. (author)
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van Es, Michael A. (author)
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Topps, Simon D. (author)
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Kenna, Aoife (author)
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Miller, Jack W. (author)
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Fallini, Claudia (author)
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Tiloca, Cinzia (author)
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McLaughlin, Russell L. (author)
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Vance, Caroline (author)
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Troakes, Claire (author)
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Colombrita, Claudia (author)
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Mora, Gabriele (author)
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Calvo, Andrea (author)
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Verde, Federico (author)
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Al-Sarraj, Safa (author)
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King, Andrew (author)
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Calini, Daniela (author)
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de Belleroche, Jacqueline (author)
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Baas, Frank (author)
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van der Kooi, Anneke J. (author)
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de Visser, Marianne (author)
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ten Asbroek, Anneloor L. M. A. (author)
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Sapp, Peter C. (author)
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McKenna-Yasek, Diane (author)
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Polak, Meraida (author)
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Asress, Seneshaw (author)
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Luis Munoz-Blanco, Jose (author)
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Strom, Tim M. (author)
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Meitinger, Thomas (author)
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Morrison, Karen E. (author)
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Lauria, Giuseppe (author)
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Williams, Kelly L. (author)
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Leigh, P. Nigel (author)
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Nicholson, Garth A. (author)
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Blair, Ian P. (author)
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Leblond, Claire S. (author)
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Dion, Patrick A. (author)
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Rouleau, Guy A. (author)
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Pall, Hardev (author)
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Shaw, Pamela J. (author)
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Turner, Martin R. (author)
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Talbot, Kevin (author)
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Taroni, Franco (author)
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Boylan, Kevin B. (author)
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Van Blitterswijk, Marka (author)
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Rademakers, Rosa (author)
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Esteban-Perez, Jesus (author)
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Garcia-Redondo, Alberto (author)
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Van Damme, Phillip (author)
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Robberecht, Wim (author)
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Chio, Adrian (author)
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Gellera, Cinzia (author)
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Drepper, Carsten (author)
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Sendtner, Michael (author)
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Ratti, Antonia (author)
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Glass, Jonathan D. (author)
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Mora, Jesus S. (author)
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Basak, Nazli A. (author)
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Hardiman, Orla (author)
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Ludolph, Albert C. (author)
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- Andersen, Peter M. (author)
- Umeå universitet,Klinisk neurovetenskap
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Weishaupt, Jochen H. (author)
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Brown, Robert H., Jr. (author)
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Al-Chalabi, Ammar (author)
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Silani, Vincenzo (author)
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Shaw, Christopher E. (author)
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van den Berg, Leonard H. (author)
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Veldink, Jan H. (author)
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Landers, John E. (author)
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D'Alfonso, Sandra (author)
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Mazzini, Letizia (author)
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Comi, Giacomo P. (author)
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Del Bo, Roberto (author)
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Ceroni, Mauro (author)
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Gagliardi, Stella (author)
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Querin, Giorgia (author)
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Bertolin, Cinzia (author)
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Pensato, Viviana (author)
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Castellotti, Barbara (author)
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Corti, Stefania (author)
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Cereda, Cristina (author)
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Corrado, Lucia (author)
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Soraru, Gianni (author)
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(creator_code:org_t)
- 2016-07-25
- 2016
- English.
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 48:9, s. 1037-1042
- Related links:
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https://air.unimi.it...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a new screening strategy, we performed gene-burden analyses trained with established ALS genes and identified a significant association between loss-of-function (LOF) NEK1 variants and FALS risk. Independently, autozygosity mapping for an isolated community in the Netherlands identified a NEK1 p.Arg261 His variant as a candidate risk factor. Replication analyses of sporadic ALS (SALS) cases and independent control cohorts confirmed significant disease association for both p.Arg261 His (10,589 samples analyzed) and NEK1 LOF variants (3,362 samples analyzed). In total, we observed NEK1 risk variants in nearly 3% of ALS cases. NEK1 has been linked to several cellular functions, including cilia formation, DNA-damage response, microtubule stability, neuronal morphology and axonal polarity. Our results provide new and important insights into ALS etiopathogenesis and genetic etiology.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Kenna, Kevin P.
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van Doormaal, Pe ...
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Dekker, Annelot ...
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Ticozzi, Nicola
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Kenna, Brendan J ...
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Diekstra, Frank ...
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show more...
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van Rheenen, Wou ...
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van Eijk, Kriste ...
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Jones, Ashley R.
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Keaglel, Pamela
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Shatunov, Alekse ...
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Sproviero, Willi ...
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Smiths, Bradley ...
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van Es, Michael ...
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Topps, Simon D.
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Kenna, Aoife
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Miller, Jack W.
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Fallini, Claudia
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Tiloca, Cinzia
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McLaughlin, Russ ...
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Vance, Caroline
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Troakes, Claire
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Colombrita, Clau ...
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Mora, Gabriele
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Calvo, Andrea
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Verde, Federico
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Al-Sarraj, Safa
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King, Andrew
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Calini, Daniela
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de Belleroche, J ...
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Baas, Frank
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van der Kooi, An ...
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de Visser, Maria ...
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ten Asbroek, Ann ...
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Sapp, Peter C.
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McKenna-Yasek, D ...
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Polak, Meraida
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Asress, Seneshaw
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Luis Munoz-Blanc ...
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Strom, Tim M.
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Meitinger, Thoma ...
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Morrison, Karen ...
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Lauria, Giuseppe
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Williams, Kelly ...
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Leigh, P. Nigel
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Nicholson, Garth ...
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Blair, Ian P.
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Leblond, Claire ...
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Dion, Patrick A.
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Rouleau, Guy A.
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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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Boylan, Kevin B.
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Van Blitterswijk ...
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Rademakers, Rosa
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Esteban-Perez, J ...
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Garcia-Redondo, ...
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Van Damme, Phill ...
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Robberecht, Wim
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Chio, Adrian
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Gellera, Cinzia
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Drepper, Carsten
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Sendtner, Michae ...
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Ratti, Antonia
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Glass, Jonathan ...
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Mora, Jesus S.
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Basak, Nazli A.
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Hardiman, Orla
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Ludolph, Albert ...
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Andersen, Peter ...
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Weishaupt, Joche ...
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Brown, Robert H. ...
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Al-Chalabi, Amma ...
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Silani, Vincenzo
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Shaw, Christophe ...
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van den Berg, Le ...
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Veldink, Jan H.
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Landers, John E.
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D'Alfonso, Sandr ...
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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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Gagliardi, Stell ...
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Querin, Giorgia
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Bertolin, Cinzia
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Pensato, Viviana
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Castellotti, Bar ...
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Corti, Stefania
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Cereda, Cristina
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Corrado, Lucia
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Soraru, Gianni
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Nature Genetics
- By the university
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Umeå University