المؤلفون: Wong, Keit Men, Wegener, Eike, Baradaran-Heravi, Alireza, Huppke, Brenda, Gärtner, Jutta, Huppke, Peter

المساهمون: Papavassiliou, Athanasios G.

مصطلحات موضوعية: article, ScholarlyArticle, ddc:610, Rett syndrome, readthrough, aminoglycosides, nonsense suppression therapy, methyl-CpG-binding protein

وصف الملف: 17 Seiten

Relation: International journal of molecular sciences -- 1422-0067 -- 1661-6596 -- http://uri.gbv.de/document/gvk:ppn:316340715 -- 2019364-6 -- http://www.bibliothek.uni-regensburg.de/ezeit/?2019364 -- https://www.mdpi.com/journal/ijms -- https://www.ncbi.nlm.nih.gov/pmc/journals/808; https://doi.org/10.3390/ijms241411665

الاتاحة: https://doi.org/10.3390/ijms241411665
https://nbn-resolving.org/urn:nbn:de:gbv:27-dbt-20230808-170026-009
https://www.db-thueringen.de/receive/dbt_mods_00058387
https://www.db-thueringen.de/servlets/MCRZipServlet/dbt_derivate_00061136

المؤلفون: Huppke, Peter, Wegener, Eike, Gilley, Jonathan, Angeletti, Carlo, Kurth, Ingo, Drenth, Joost PH, Stadelmann, Christine, Barrantes-Freer, Alonso, Brück, Wolfgang, Thiele, Holger, Nürnberg, Peter, Gärtner, Jutta, Orsomando, Giuseppe, Coleman, Michael P

مصطلحات موضوعية: Erythromelalgia, NAD, NMNAT2, Polyneuropathy, Wallerian degeneration, Female, Homozygote, Humans, Mutation, Missense, Nicotinamide-Nucleotide Adenylyltransferase, Pedigree, Polyneuropathies, Siblings

وصف الملف: Print-Electronic; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/292980

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/292980
https://doi.org/10.17863/CAM.40131

المؤلفون: Kettwig, Matthias, Elpeleg, Orly, Wegener, Eike, Dreha-Kulaczewski, Steffi, Henneke, Marco, Gärtner, Jutta, Huppke, Peter

المصدر: BMC Neurology ; volume 16, issue 1 ; ISSN 1471-2377

الاتاحة: http://dx.doi.org/10.1186/s12883-016-0602-7
http://link.springer.com/content/pdf/10.1186/s12883-016-0602-7

المؤلفون: Wegener, Eike, Brendel, Cornelia, Fischer, Andre, Huelsmann, Swen, Gärtner, Jutta, Huppke, Peter

Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/3379; 000347239900045; 3141995; https://resolver.sub.uni-goettingen.de/purl?gs-1/11433

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/3379
https://resolver.sub.uni-goettingen.de/purl?gs-1/11433
https://doi.org/10.1371/journal.pone.0115444

المؤلفون: Huppke, Peter, Wegener, Eike, Böhrer-Rabel, Helena, Bolz, Hanno J, Zoll, Barbara, Gärtner, Jutta, Bergmann, Carsten

المصدر: European Journal of Human Genetics ; volume 23, issue 5, page 616-620 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2014.160
http://www.nature.com/articles/ejhg2014160.pdf
http://www.nature.com/articles/ejhg2014160

المؤلفون: Brendel, Cornelia, Belakhov, Valery, Werner, Hauke, Wegener, Eike, Gärtner, Jutta, Nudelman, Igor, Baasov, Timor, Huppke, Peter

المصدر: Journal of Molecular Medicine ; volume 91, issue 6, page 775-775 ; ISSN 0946-2716 1432-1440

الاتاحة: http://dx.doi.org/10.1007/s00109-013-1029-x
http://link.springer.com/content/pdf/10.1007/s00109-013-1029-x.pdf
http://link.springer.com/article/10.1007/s00109-013-1029-x/fulltext.html
http://link.springer.com/content/pdf/10.1007/s00109-013-1029-x

المؤلفون: Kolanczyk, Mateusz, Mautner, Victor, Kossler, Nadine, Nguyen, Rosa, Kühnisch, Jirko, Zemojtel, Tomasz, Jamsheer, Aleksander, Wegener, Eike, Thurisch, Boris, Tinschert, Sigrid, Holtkamp, Nikola, Park, Su-Jin, Birch, Patricia, Kendler, David, Harder, Anja, Mundlos, Stefan, Kluwe, Lan

Relation: BMC Medicine. 2011 Jul 04;9(1):82; http://hdl.handle.net/2429/54526

الاتاحة: http://hdl.handle.net/2429/54526
https://doi.org/10.1186/1741-7015-9-82

المؤلفون: Brendel, Cornelia, Belakhov, Valery, Werner, Hauke, Wegener, Eike, Gärtner, Jutta, Nudelman, Igor, Baasov, Timor, Huppke, Peter

المصدر: Journal of Molecular Medicine ; volume 89, issue 4, page 389-398 ; ISSN 0946-2716 1432-1440

الاتاحة: http://dx.doi.org/10.1007/s00109-010-0704-4
http://www.springerlink.com/index/pdf/10.1007/s00109-010-0704-4

المؤلفون: Kettwig, Matthias, Elpeleg, Orly, Wegener, Eike, Dreha-Kulaczewski, Steffi, Henneke, Marco, GäRtner, Jutta, Huppke, Peter

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6164fb28ef873d92f79c7c2c952585e3

المؤلفون: Huppke, Peter, Wegener, Eike, Böhrer-Rabel, Helena, Bolz, Hanno J, Zoll, Barbara, Gärtner, Jutta, Bergmann, Carsten

المصدر: European Journal of Human Genetics; May2015, Vol. 23 Issue 5, p616-620, 5p

مصطلحات موضوعية: JOUBERT syndrome, GENETIC mutation, HUMAN genetic variation, INTELLECTUAL disabilities, PSYCHOMOTOR disorders, HUMAN phenotype, GENETICS

المؤلفون: Wegener, Eike, Brendel, Cornelia, Fischer, Andre, Hülsmann, Swen, Gärtner, Jutta, Huppke, Peter

المصدر: PLoS ONE; Dec2014, Vol. 9 Issue 12, p1-14, 14p

مصطلحات موضوعية: RETT syndrome, INTELLECTUAL disabilities, X chromosome, GENETIC mutation, LABORATORY mice, WOMEN patients

المؤلفون: Brendel, Cornelia, Belakhov, Valery, Werner, Hauke, Wegener, Eike, Gärtner, Jutta, Nudelman, Igor, Baasov, Timor, Huppke, Peter

المصدر: Journal of Molecular Medicine; Apr2011, Vol. 89 Issue 4, p389-398, 10p

مصطلحات موضوعية: RETT syndrome, UTERINE cancer, GENTAMICIN, ANTIBACTERIAL agents, FIBROBLASTS, IMMUNOFLUORESCENCE

المؤلفون: Peter Huppke, Eike Wegener, Jonathan Gilley, Carlo Angeletti, Ingo Kurth, Joost P. H. Drenth, Christine Stadelmann, Alonso Barrantes-Freer, Wolfgang Brück, Holger Thiele, Peter Nürnberg, Jutta Gärtner, Giuseppe Orsomando, Michael P. Coleman

المساهمون: Peter Huppke, Eike Wegener, Jonathan Gilley, Carlo Angeletti, Ingo Kurth, Joost P.H. Drenth, Christine Stadelmann, Alonso Barrantes-Freer, Wolfgang Brück, Holger Thiele, Peter Nürnberg, Jutta Gärtner, Giuseppe Orsomando, Michael P. Coleman, Huppke, Peter, Wegener, Eike, Gilley, Jonathan, Angeletti, Carlo, Kurth, Ingo, Drenth, Joost P. H., Stadelmann, Christine, Barrantes-Freer, Alonso, Brück, Wolfgang, Thiele, Holger, Nürnberg, Peter, Gärtner, Jutta, Orsomando, Giuseppe, Coleman, Michael P.

وصف الملف: ELETTRONICO

Relation: ispartofbook:BioRxiv - The Preprint Server for Biology; http://hdl.handle.net/11566/294733; https://www.biorxiv.org/content/10.1101/610907v1

الاتاحة: http://hdl.handle.net/11566/294733
https://doi.org/10.1101/610907
https://www.biorxiv.org/content/10.1101/610907v1