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Träfflista för sökning "WFRF:(Foulds N) "

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1.	O'Donnell-Luria, AH, et al. (author) Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy 2019 In: American journal of human genetics. - : Elsevier BV. - 1537-6605 .- 0002-9297. ; 104:6, s. 1210-1222 Journal article (peer-reviewed)
2.	Cossarizza, A., et al. (author) Guidelines for the use of flow cytometry and cell sorting in immunological studies (second edition) 2019 In: European Journal of Immunology. - : Wiley. - 0014-2980 .- 1521-4141. ; 49:10, s. 1457-1973 Journal article (peer-reviewed)abstract These guidelines are a consensus work of a considerable number of members of the immunology and flow cytometry community. They provide the theory and key practical aspects of flow cytometry enabling immunologists to avoid the common errors that often undermine immunological data. Notably, there are comprehensive sections of all major immune cell types with helpful Tables detailing phenotypes in murine and human cells. The latest flow cytometry techniques and applications are also described, featuring examples of the data that can be generated and, importantly, how the data can be analysed. Furthermore, there are sections detailing tips, tricks and pitfalls to avoid, all written and peer-reviewed by leading experts in the field, making this an essential research companion.
3.	Eggens, Veerle Rc, et al. (author) EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. 2014 In: Orphanet journal of rare diseases. - : Springer Science and Business Media LLC. - 1750-1172. ; 9:1 Journal article (peer-reviewed)abstract Pontocerebellar hypoplasia (PCH) represents a group of neurodegenerative disorders with prenatal onset. Eight subtypes have been described thus far (PCH1-8) based on clinical and genetic features. Common characteristics include hypoplasia and atrophy of the cerebellum, variable pontine atrophy, and severe mental and motor impairments. PCH1 is distinctly characterized by the combination with degeneration of spinal motor neurons. Recently, mutations in the exosome component 3 gene (EXOSC3) have been identified in approximately half of the patients with PCH subtype 1.
4.	Cossarizza, A, et al. (author) Guidelines for the use of flow cytometry and cell sorting in immunological studies 2017 In: European journal of immunology. - : Wiley. - 1521-4141 .- 0014-2980. ; 47:10, s. 1584-1797 Journal article (peer-reviewed)
5.	Fourati, S, et al. (author) Modulation of RAS Pathways as a Biomarker of Protection against HIV and as a Means to Improve Vaccine Efficacy 2014 In: AIDS RESEARCH AND HUMAN RETROVIRUSES. - : Mary Ann Liebert Inc. - 0889-2229 .- 1931-8405. ; 30, s. A99-A99 Conference paper (other academic/artistic)
6.	Hart, AR, et al. (author) Antenatal counselling for prospective parents whose fetus has a neurological anomaly: part 1, experiences and recommendations for service design 2022 In: Developmental medicine and child neurology. - : Wiley. - 1469-8749 .- 0012-1622. ; 64:1, s. 14-22 Journal article (peer-reviewed)
7.	Hart, AR, et al. (author) Antenatal counselling for prospective parents whose fetus has a neurological anomaly: part 2, risks of adverse outcome in common anomalies 2022 In: Developmental medicine and child neurology. - : Wiley. - 1469-8749 .- 0012-1622. ; 64:1, s. 23-39 Journal article (peer-reviewed)
8.	Ryghaug, M, et al. (author) 100 Social Sciences and Humanities priority research questions for transport and mobility in Horizon Europe 2020 Reports (other academic/artistic)
9.	Sharkey, Freddie H., et al. (author) The 12q14 microdeletion syndrome, 6 new cases confirming the role of HMGA2 in growth 2010 In: Journal of Medical Genetics. - 0022-2593 .- 1468-6244. ; 47:Suppl. 1, s. S90-S90 Journal article (other academic/artistic)
10.	Vaccari, M, et al. (author) Adjuvant-dependent innate and adaptive immune signatures of risk of SIVmac251 acquisition 2016 In: Nature medicine. - : Springer Science and Business Media LLC. - 1546-170X .- 1078-8956. ; 22:7, s. 762-770 Journal article (peer-reviewed)

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Type of publication: journal article (8); reports (1); conference paper (1)

Type of content: peer-reviewed (7); other academic/artistic (3)

Author/Editor: Schmitt, S. (2); Zhao, Y. (2); Veldhoen, M. (2); Herrera, G. (2); Thompson, D. (2); Clerici, M (2); show more...; Franchini, G (2); Moretta, L (2); Robert-Guroff, M (2); Roederer, M (2); Tartaglia, J (2); Wiedemann, A (2); McDermott, A. (2); Keller, B. (2); Hahn, J. (2); Venzon, D (2); Blanco, A (2); Radstake, TRDJ (2); Gori, A (2); Khan, S (2); Foster, J (2); Lore, K (2); Koup, RA (2); Baumgart, S. (2); Buscher, M. (2); Kim, JH (2); Akdis, M (2); Muller, S. (2); Rao, M (2); Montefiori, DC (2); Deniz, G (2); Becher, B. (2); Zimmermann, J (2); Lam, W (2); IANNONE, A (2); Moore, J (2); Vollmer, B (2); Matarese, G (2); Ferrari, G. (2); Everts, B (2); Engelhardt, B (2); Alter, G. (2); Dorner, T (2); Lugli, E (2); Peterson, P (2); Stockinger, H (2); Lopez, L (2); Huang, B. (2); Stehle, C (2); Fillatreau, S (2); show less...

University: Karolinska Institutet (7); University of Gothenburg (2); Linköping University (2); Royal Institute of Technology (1); Uppsala University (1); Lund University (1)

Language: English (10)

Research subject (UKÄ/SCB): Medical and Health Sciences (3); Natural sciences (1); Social Sciences (1)

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