Výsledky vyhledávání - "Hellström Pigg, Maritta"

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Akademický článek

Genotypic and Clinical Spectrum of Self-Improving Collodion Ichthyosis: ALOX12B, ALOXE3, and TGM1 Mutations in Scandinavian Patients

Autor: Vahlquist, Anders ^*, Bygum, Anette, Gånemo, Agneta, Virtanen, Marie, Hellström-Pigg, Maritta, Strauss, Gitte, Brandrup, Flemming, Fischer, Judith ^*

Publikováno v: In Journal of Investigative Dermatology February 2010 130(2):438-443

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Additional file 1 of Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Autor: Stranneheim, Henrik, Lagerstedt-Robinson, Kristina, Magnusson, Måns, Kvarnung, Malin, Nilsson, Daniel, Lesko, Nicole, Engvall, Martin, Britt-Marie Anderlid, Arnell, Henrik, Johansson, Carolina Backman, Barbaro, Michela, Björck, Erik, Bruhn, Helene, Eisfeldt, Jesper, Freyer, Christoph, Giedre Grigelioniene, Gustavsson, Peter, Hammarsjö, Anna, Hellström-Pigg, Maritta, Iwarsson, Erik, Jemt, Anders, Laaksonen, Mikael, Enoksson, Sara Lind, Malmgren, Helena, Naess, Karin, Nordenskjöld, Magnus, Oscarson, Mikael, Pettersson, Maria, Rasi, Chiara, Rosenbaum, Adam, Ellika Sahlin, Sardh, Eliane, Stödberg, Tommy, Tesi, Bianca, Tham, Emma, Thonberg, Håkan, Töhönen, Virpi, Döbeln, Ulrika Von, Vassiliou, Daphne, Vonlanthen, Sofie, Ann-Charlotte Wikström, Wincent, Josephine, Winqvist, Ola, Wredenberg, Anna, Ygberg, Sofia, Zetterström, Rolf H., Marits, Per, Soller, Maria Johansson, Nordgren, Ann, Wirta, Valtteri, Lindstrand, Anna, Wedell, Anna

Additional file 1: Supplementary methods, Table S1. List of SNPs used for genotyping, Table S2. In house developed open source software used, Table S3. Publicly available open source software used, Table S4. Publicly available databases used, Table S

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43dd2a6cf8c7a54b135452d5d3440c36