↓ Direkt till sidans innehåll
↓ Direkt till sidans sekundära innehåll (sidomenyn)

Träfflista för sökning "WFRF:(Superti Furga G.) srt2:(2015-2019)"

Search: WFRF:(Superti Furga G.) > (2015-2019)

Result 1-4 of 4

Sort/group result

Sort by: Hits per page:

Enumeration	Reference	Cover	Find
1.	Arrowsmith, CH, et al. (author) The promise and peril of chemical probes 2015 In: Nature chemical biology. - : Springer Science and Business Media LLC. - 1552-4469 .- 1552-4450. ; 11:8, s. 536-541 Journal article (peer-reviewed)
2.	Li, J, et al. (author) Artemisinins Target GABAA Receptor Signaling and Impair α Cell Identity 2017 In: Cell. - : Elsevier BV. - 1097-4172 .- 0092-8674. ; 168:1-2, s. 86- Journal article (peer-reviewed)
3.	Peter, Virginie G., et al. (author) A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa 2019 In: Ophthalmic Genetics. - : Informa UK Limited. - 1381-6810 .- 1744-5094. ; 40:2, s. 177-181 Journal article (peer-reviewed)abstract Background: Inherited retinal degenerations (IRDs) encompass a wide spectrum of genetic ocular diseases characterized by considerable genetic and clinical heterogeneity. Methods: Complete ophthalmic examination and next-generation sequencing. Results: We describe a patient with no family history of vision loss, who at the age of 28 years developed visual impairment consistent with a severe form of retinitis pigmentosa. Genetic testing by means of whole exome sequencing identified a homozygous variant in the gene IDH3A. To date, only three papers have reported mutations in IDH3A, in families with early-onset retinal degeneration with or without the presence of macular pseudocoloboma. Conclusion: This study highlights the importance of including this rarely-mutated gene in the molecular diagnostic set-ups for IRDs, and further delineates the phenotypic spectrum elicited by mutations in IDH3A.
4.	Vladimer, GI, et al. (author) Global survey of the immunomodulatory potential of common drugs 2017 In: Nature chemical biology. - : Springer Science and Business Media LLC. - 1552-4469 .- 1552-4450. ; 13:6, s. 681- Journal article (peer-reviewed)

Skapa referenser, mejla, bekava och länka

Permalink

Result 1-4 of 4

Refine your search

Type of publication: journal article (4)

Type of content: peer-reviewed (4)

Author/Editor: Huber, KVM (3); Bock, C. (1); Howe, T. (1); Li, J. (1); Gray, N. (1); Andréasson, Sten (1); show more...; Edwards, AM (1); Arrowsmith, CH (1); Schapira, M (1); Willson, TM (1); Brown, PJ (1); Knapp, S (1); Owen, DR (1); Sundstrom, M (1); Cohen, P (1); Vieira, A (1); Jin, J (1); Harkany, T (1); Cravatt, B (1); Muller, S. (1); Helleday, T (1); Austin, C (1); Romanov, RA (1); Farinelli, Pietro (1); Audia, JE (1); Baell, J (1); Bennett, J (1); Blagg, J (1); Bountra, C (1); Brennan, PE (1); Bunnage, ME (1); Buser-Doepner, C (1); Campbell, RM (1); Carter, AJ (1); Copeland, RA (1); Dahlin, JL (1); Dhanak, D (1); Frye, SV (1); Grimshaw, CE (1); Hepworth, D (1); Kotz, JD (1); Kruger, RG (1); Lowe, D (1); Mader, MM (1); Marsden, B (1); Mueller-Fahrnow, A (1); O'Hagan, RC (1); Overington, JP (1); Rosenberg, SH (1); Roth, B (1); show less...

University: Karolinska Institutet (3); Lund University (1)

Language: English (4)

Research subject (UKÄ/SCB): Medical and Health Sciences (1)

Year

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

Copyright © LIBRIS - National Library Systems
LIBRIS.kb.se

pil uppåt

Close

Copy and save the link in order to return to this view