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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Page: 1 2 Hits 1 – 20 of 26 1 The Role of Teacher Education in Teaching Science to Emergent Bilingual Learners Lyon E; Tolbert, Sara. - : Routledge, 2021 BASE Show details 2 Effect of Constant versus Variable Small-Group Facilitators on Student Basic Science Knowledge in an Enquiry-Based Dental Curriculum Zahra, D; Bennett, J; Belfield, L. - : Wiley, 2019 BASE Show details 3 Inscopix Annotated One-photon Calcium Imaging Datasets ... : CRCNS.org ix1p-1 ... Schachter, Michael J.; Fowler, Boyd; Wang, Lucas. - : CRCNS.org, 2018 BASE Show details 4 The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature Piard, J; Hawkes, L; Milh, M; Villard, L; Borgatti, R; Romaniello, R; Fradin, M; Capri, Y; Héron, D; Nougues, M-C; Nava, C; Arsene, OT; Shears, D; Taylor, J; Pagnamenta, A; Taylor, JC; Sogawa, Y; Johnson, D; Firth, H; Vasudevan, P; Jones, G; Nguyen-Morel, M-A; Busa, T; Roubertie, A; Van Den Born, M; Brischoux-Boucher, E; Koenig, M; Mignot, C; Ddd Study,; Kini, U; Philippe, C. - 2018 Abstract: Purpose Germline WWOX pathogenic variants have been associated with disorder of sex differentiation (DSD), spinocerebellar ataxia (SCA), and WWOX-related epileptic encephalopathy (WOREE syndrome). We review clinical and molecular data on WWOX-related disorders, further describing WOREE syndrome and phenotype/genotype correlations. Methods We report clinical and molecular findings in 20 additional patients from 18 unrelated families with WOREE syndrome and biallelic pathogenic variants in the WWOX gene. Different molecular screening approaches were used (quantitative polymerase chain reaction/multiplex ligation-dependent probe amplification [qPCR/MLPA], array comparative genomic hybridization [array-CGH], Sanger sequencing, epilepsy gene panel, exome sequencing), genome sequencing. Results Two copy-number variations (CNVs) or two single-nucleotide variations (SNVs) were found respectively in four and nine families, with compound heterozygosity for one SNV and one CNV in five families. Eight novel missense pathogenic variants have been described. By aggregating our patients with all cases reported in the literature, 37 patients from 27 families with WOREE syndrome are known. This review suggests WOREE syndrome is a very severe epileptic encephalopathy characterized by absence of language development and acquisition of walking, early-onset drug-resistant seizures, ophthalmological involvement, and a high likelihood of premature death. The most severe clinical presentation seems to be associated with null genotypes. Conclusion Germline pathogenic variants in WWOX are clearly associated with a severe early-onset epileptic encephalopathy. We report here the largest cohort of individuals with WOREE syndrome. URL: https://doi.org/10.1038/s41436-018-0339-3 BASE Hide details 5 CLEF 2017 NewsREEL overview: A stream-based recommender task for evaluation and education Lommatzsch, A.; Kille, B.; Hopfgartner, F.. - : Springer, 2017 BASE Show details 6 Neural ensemble dynamics underlying a long-term associative memory Grewe, Benjamin F.; Gründemann, Jan; Kitch, Lacey J.. - 2017 BASE Show details 7 Simulating Developmental Changes in Noun Richness through Performance-limited Distributional Analysis Freudenthal, D; Pine, JM; Jones, G. - 2016 BASE Show details 8 Experimental IR Meets Multilinguality, Multimodality, and Interaction : 6th International Conference of the CLEF Association, CLEF'15, Toulouse, France, September 8-11, 2015, Proceedings Mothe, Josiane; Savoy, Jacques; Kamps, Jaap. - : HAL CCSD, 2015. : Springer, 2015 In: 6th International Conference of the CLEF Association (CLEF 2015) ; https://hal.archives-ouvertes.fr/hal-03198249 ; Mothe, Josiane; Savoy, Jacques; Kamps, J.; Pinel-Sauvagnat, Karen; Jones, G.; SanJuan, E.; Cappellato, L.; Wolf, I. 6th International Conference of the CLEF Association (CLEF 2015), 9283, Springer, 564 pp., 2015, Lecture Notes in Computer Science (LNCS), 978-3-319-24026-8 ; https://www.springer.com/gp/book/9783319240268 (2015) BASE Show details 9 Defaulting effects contribute to the simulation of cross-linguistic differences in Optional Infinitive errors Pine, J; Freudenthal, D; Jones, G. - 2015 BASE Show details 10 Measurement of the muon reconstruction performance of the ATLAS detector using 2011 and 2012 LHC proton-proton collision data. Aad, G; Abbott, B; Abdallah, J... In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2014) BASE Show details 11 Basal insulin and cardiovascular and other outcomes in dysglycemia. Gerstein, H.C.; Bosch, J.; Dagenais, G.R.... In: New England Journal of Medicine, vol. 367, no. 4, pp. 319-328 (2012) BASE Show details 12 n-3 fatty acids and cardiovascular outcomes in patients with dysglycemia. Bosch, J.; Gerstein, H.C.; Dagenais, G.R.... In: New England Journal of Medicine, vol. 367, no. 4, pp. 309-318 (2012) BASE Show details 13 Mildness and the Density of Rational Points on Certain Transcendental Curves. Jones, G O; Miller, D J; Thomas, M E M In: Notre Dame journal of formal logic. - Durham, NC : Duke University Press 52 (2011) 1, 67-74 OLC Linguistik Show details 14 Article 12 (30 pages) Sub-Word Indexing and Blind Relevance Feedback for English, Bengali, Hindi, and Marathi IR Leveling, J; Jones, G J F In: Association for Computing Machinery. ACM transactions on Asian language information processing. - New York, NY : ACM 9 (2010) 3 OLC Linguistik Show details 15 Oral contraceptive pill containing drospirenone and the professional voice: An electrolaryngographic analysis Lã, FMB; Howard, D. M.; Ledger, W.L.. - : Informa Healthcare, 2009 BASE Show details 16 Linking working memory and long-term memory: A computational model of the learning of new words Jones, G; Gobet, F; Pine, J M. - : Blackwell Publishing. The definitive version is available at onlinelibrary.wiley.com, 2007 BASE Show details 17 The CLEF 2004 cross-language image retrieval track Clough, P.; Sanderson, M.; Müller, H.. - : Heidelberg, Germany: Springer, 2005 BASE Show details 18 40th EASD Annual Meeting of the European Association for the Study of Diabetes : Munich, Germany, 5-9 September 2004. Veitenhansl M, Stegner K; Chatellier G, Group D.E.S.I.R.; DIABHYCAR Study Group, Nichols GA. - : Springer, 2004. : country:DEU, 2004. : place:Berli, 2004 BASE Show details 19 Learning novel sound patterns Jones, G; Gobet, F; Pine, J M. - : Universal Press, 2000 BASE Show details 20 A process model of children's early verb use Jones, G; Gobet, F; Pine, J M. - : Erlbaum, 2000 BASE Show details Page: 1 2

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