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Results 1-10 of 10 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2017
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Geisheker, M.
;
Heymann, G.
;
Wang, T.
;
Coe, B.
;
Turner, T.
;
Stessman, H.
;
Hoekzema, K.
;
Kvarnung, M.
;
Shaw, M.
;
Friend, K.
;
Liebelt, J.
;
Barnett, C.
;
Thompson, E.
;
Haan, E.
;
Guo, H.
;
Anderlid, B.
;
Nordgren, A.
;
Lindstrand, A.
;
Vandeweyer, G.
;
Alberti, A.
;
et al.
2017
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing
Jansen, I.E.
;
Ye, H.
;
Heetveld, S.
;
Lechler, M.C.
;
Michels, H.
;
Seinstra, R.I.
;
Lubbe, S.J.
;
Drouet, V.
;
Lesage, S.
;
Majounie, E.
;
Gibbs, J.R.
;
Nalls, M.A.
;
Ryten, M.
;
Botia, J.A.
;
Vandrovcova, J.
;
Simon-Sanchez, J.
;
Castillo-Lizardo, M.
;
Rizzu, P.
;
Blauwendraat, C.
;
Chouhan, A.K.
;
et al.
2017
Mapping complex traits in a diversity outbred f1 mouse population identifies germline modifiers of metastasis in human prostate cancer
Winter, J.
;
Gildea, D.
;
Andreas, J.
;
Gatti, D.
;
Williams, K.
;
Lee, M.
;
Hu, Y.
;
Zhang, S.
;
Mullikin, J.
;
Wolfsberg, T.
;
McDonnell, S.
;
Fogarty, Z.
;
Larson, M.
;
French, A.
;
Schaid, D.
;
Thibodeau, S.
;
Churchill, G.
;
Crawford, N.
2017
Sharing data to build a medical information commons: from Bermuda to the Global Alliance
Cook-Deegan, R.
;
Ankeny, R.A.
;
Jones, K.M.
;
Chakravarti, A.
;
Green, E.D.
2017
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Stessman, H.
;
Xiong, B.
;
Coe, B.
;
Wang, T.
;
Hoekzema, K.
;
Fenckova, M.
;
Kvarnung, M.
;
Gerdts, J.
;
Trinh, S.
;
Cosemans, N.
;
Vives, L.
;
Lin, J.
;
Turner, T.
;
Santen, G.
;
Ruivenkamp, C.
;
Kriek, M.
;
Van Haeringen, A.
;
Aten, E.
;
Friend, K.
;
Liebelt, J.
;
et al.
2017
Mitochondrion to endoplasmic reticulum apposition length in zebrafish embryo spinal progenitors is unchanged in response to perturbations associated with Alzheimer’s disease
Newman, M.
;
Halter, L.
;
Lim, A.
;
Lardelli, M.
;
Lakshmana, M.
2017
A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repair
Brickner, J.
;
Soll, J.
;
Lombardi, P.
;
Vågbø, C.
;
Mudge, M.
;
Oyeniran, C.
;
Rabe, R.
;
Jackson, J.
;
Sullender, M.
;
Blazosky, E.
;
Byrum, A.
;
Zhao, Y.
;
Corbett, M.
;
Gécz, J.
;
Field, M.
;
Vindigni, A.
;
Slupphaug, G.
;
Wolberger, C.
;
Mosammaparast, N.
2017
Modelling predictors of molecular response to frontline imatinib for patients with chronic myeloid leukaemia
Banjar, H.
;
Ranasinghe, D.
;
Brown, F.
;
Adelson, D.
;
Kroger, T.
;
Leclercq, T.
;
White, D.
;
Hughes, T.
;
Chaudhri, N.
;
Speletas, M.
2017
Single-nucleotide variant proportion in genes: a new concept to explore major depression based on DNA sequencing data
Yu, C.
;
Baune, B.
;
Licinio, J.
;
Wong, M.
2017
Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy
Ewans, L.J.
;
Field, M.
;
Zhu, Y.
;
Turner, G.
;
Leffler, M.
;
Dinger, M.E.
;
Cowley, M.J.
;
Buckley, M.F.
;
Scheffer, I.E.
;
Jackson, M.R.
;
Roscioli, T.
;
Shoubridge, C.
Discover
Author
3
et al.
2
Coe, B.
2
Field, M.
2
Friend, K.
2
Hoekzema, K.
2
Kvarnung, M.
2
Liebelt, J.
2
Stessman, H.
2
Turner, T.
2
Wang, T.
.
next >
Subject
2
Child
2
Disease Models, Animal
2
Endoplasmic Reticulum
2
Germ-Line Mutation
2
High-Throughput Nucleotide Sequen...
2
Intellectual Disability
2
Mice
2
Middle Aged
2
Phenotype
2
Polymorphism, Single Nucleotide
.
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