Results
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NEK1 loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons. [electronic resource] by
- Higelin, Julia
- Catanese, Alberto
- Semelink-Sedlacek, Lena Luisa
- Oeztuerk, Sertap
- Lutz, Anne-Kathrin
- Bausinger, Julia
- Barbi, Gotthold
- Speit, Günter
- Andersen, Peter M
- Ludolph, Albert C
- Demestre, Maria
- Boeckers, Tobias M
Producer: 20190208
In:
Stem cell research vol. 30
Availability: No items available.
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Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations. [electronic resource] by
- Wang, Zheng
- Horemuzova, Eva
- Iida, Aritoshi
- Guo, Long
- Liu, Ying
- Matsumoto, Naomichi
- Nishimura, Gen
- Nordgren, Ann
- Miyake, Noriko
- Tham, Emma
- Grigelioniene, Giedre
- Ikegawa, Shiro
Producer: 20170613
In:
Journal of human genetics vol. 62
Availability: No items available.
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Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese. [electronic resource] by
- Gratten, Jacob
- Zhao, Qiongyi
- Benyamin, Beben
- Garton, Fleur
- He, Ji
- Leo, Paul J
- Mangelsdorf, Marie
- Anderson, Lisa
- Zhang, Zong-Hong
- Chen, Lu
- Chen, Xiang-Ding
- Cremin, Katie
- Deng, Hong-Weng
- Edson, Janette
- Han, Ying-Ying
- Harris, Jessica
- Henders, Anjali K
- Jin, Zi-Bing
- Li, Zhongshan
- Lin, Yong
- Liu, Xiaolu
- Marshall, Mhairi
- Mowry, Bryan J
- Ran, Shu
- Reutens, David C
- Song, Sharon
- Tan, Li-Jun
- Tang, Lu
- Wallace, Robyn H
- Wheeler, Lawrie
- Wu, Jinyu
- Yang, Jian
- Xu, Huji
- Visscher, Peter M
- Bartlett, Perry F
- Brown, Matthew A
- Wray, Naomi R
- Fan, Dongsheng
Producer: 20180713
In:
Genome medicine vol. 9
Availability: No items available.
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Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome). [electronic resource] by
- Monroe, Glen R
- Kappen, Isabelle Fpm
- Stokman, Marijn F
- Terhal, Paulien A
- van den Boogaard, Marie-José H
- Savelberg, Sanne Mc
- van der Veken, Lars T
- van Es, Robert Jj
- Lens, Susanne M
- Hengeveld, Rutger C
- Creton, Marijn A
- Janssen, Nard G
- Mink van der Molen, Aebele B
- Ebbeling, Michelle B
- Giles, Rachel H
- Knoers, Nine V
- van Haaften, Gijs
Producer: 20170711
In:
European journal of human genetics : EJHG vol. 24
Availability: No items available.
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NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. [electronic resource] by
- Kenna, Kevin P
- van Doormaal, Perry T C
- Dekker, Annelot M
- Ticozzi, Nicola
- Kenna, Brendan J
- Diekstra, Frank P
- van Rheenen, Wouter
- van Eijk, Kristel R
- Jones, Ashley R
- Keagle, Pamela
- Shatunov, Aleksey
- Sproviero, William
- Smith, Bradley N
- van Es, Michael A
- Topp, Simon D
- Kenna, Aoife
- Miller, Jack W
- Fallini, Claudia
- Tiloca, Cinzia
- McLaughlin, Russell L
- Vance, Caroline
- Troakes, Claire
- Colombrita, Claudia
- Mora, Gabriele
- Calvo, Andrea
- Verde, Federico
- Al-Sarraj, Safa
- King, Andrew
- Calini, Daniela
- de Belleroche, Jacqueline
- Baas, Frank
- van der Kooi, Anneke J
- de Visser, Marianne
- Ten Asbroek, Anneloor L M A
- Sapp, Peter C
- McKenna-Yasek, Diane
- Polak, Meraida
- Asress, Seneshaw
- Muñoz-Blanco, José Luis
- Strom, Tim M
- Meitinger, Thomas
- Morrison, Karen E
- Lauria, Giuseppe
- Williams, Kelly L
- Leigh, P Nigel
- Nicholson, Garth A
- Blair, Ian P
- Leblond, Claire S
- Dion, Patrick A
- Rouleau, Guy A
- Pall, Hardev
- Shaw, Pamela J
- Turner, Martin R
- Talbot, Kevin
- Taroni, Franco
- Boylan, Kevin B
- Van Blitterswijk, Marka
- Rademakers, Rosa
- Esteban-Pérez, Jesús
- García-Redondo, Alberto
- Van Damme, Phillip
- Robberecht, Wim
- Chio, Adriano
- Gellera, Cinzia
- Drepper, Carsten
- Sendtner, Michael
- Ratti, Antonia
- Glass, Jonathan D
- Mora, Jesús S
- Basak, Nazli A
- Hardiman, Orla
- Ludolph, Albert C
- Andersen, Peter M
- Weishaupt, Jochen H
- Brown, Robert H
- Al-Chalabi, Ammar
- Silani, Vincenzo
- Shaw, Christopher E
- van den Berg, Leonard H
- Veldink, Jan H
- Landers, John E
Producer: 20170907
In:
Nature genetics vol. 48
Availability: No items available.
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