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Browsing by Author "Stefánsdóttir, Vigdís Fjóla"

Browsing by Author "Stefánsdóttir, Vigdís Fjóla"

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  • Högnason, Hákon Björn; Stefánsdóttir, Vigdís Fjóla; Þórólfsdóttir, Eirný Þöll; Jónsson, Jón Jóhannes; Björnsson, Hans Tómas (2022-01-04)
    INNGANGUR Formleg erfðaráðgjafareining hefur verið starfrækt á Landspítala við Hringbraut frá árinu 2006. Samhliða hefur áhugi og þörf á erfðalæknisfræði í almennri heilbrigðisþjónustu aukist til muna. Í þessari grein er starfsemi og útkoma erfðarannsókna ...
  • Thorsteinsson, Daniel A.; Stefánsdóttir, Vigdís Fjóla; Eysteinsson, Þór; Thorisdottir, Sigridur; Jónsson, Jón Jóhannes (2021-08)
    The study objective was to delineate the genetics of inherited retinal degenerations (IRDs) in Iceland, a small nation of 364.000 and a genetic isolate. Benefits include delineating novel pathogenic genetic variants and defining genetically homogenous ...
  • Milne, Richard; Morley, Katherine I; Almarri, Mohamed A; Atutornu, Jerome; Baranova, Elena E; Bevan, Paul; Cerezo, Maria; Cong, Yali; Costa, Alessia; Feijao, Carolina; de Freitas, Cláudia; Fernow, Josepine; Goodhand, Peter; Hasan, Qurratulain; Hibino, Aiko; Houeland, Gry; Howard, Heidi C; Hussain Sheikh, Zakir; Malmgren, Charlotta Ingvoldstad; Izhevskaya, Vera L; Jędrzejak, Aleksandra; Jinhong, Cao; Kimura, Megumi; Kleiderman, Erika; Liu, Keying; Mascalzoni, Deborah; Mendes, Álvaro; Minari, Jusaku; Nicol, Dianne; Niemiec, Emilia; Patch, Christine; Prainsack, Barbara; Rivière, Marie; Robarts, Lauren; Roberts, Jonathan; Romano, Virginia; Sheerah, Haytham A; Smith, James; Soulier, Alexandra; Steed, Claire; Stefánsdóttir, Vigdís Fjóla; Tandre, Cornelia; Thorogood, Adrian; Voigt, Torsten H; Wang, Nan; Yoshizawa, Go; Middleton, Anna (2022-05)
    PURPOSE: The aim of this study was to determine how attitudes toward the return of genomic research results vary internationally. METHODS: We analyzed the "Your DNA, Your Say" online survey of public perspectives on genomic data sharing including ...
  • Forzano, Francesca; Antonova, Olga; Clarke, Angus; de Wert, Guido; Hentze, Sabine; Jamshidi, Yalda; Moreau, Yves; Perola, Markus; Prokopenko, Inga; Read, Andrew; Reymond, Alexandre; Stefánsdóttir, Vigdís Fjóla; van El, Carla; Genuardi, Maurizio; Peterlin, Borut; Oliveira, Carla; Writzl, Karin; Houge, Gunnar Douzgos; Cordier, Christophe; Howard, Heidi; Macek, Milan; Melegh, Béla; Mendes, Alvaro; Radojkovic, Dragica; Rial-Sebbag, Emmanuelle; Ulph, Fiona; Jamshidi, Yalda (2022-05)
    Y Polygenic risk score analyses on embryos (PGT-P) are being marketed by some private testing companies to parents using in vitro fertilisation as being useful in selecting the embryos that carry the least risk of disease in later life. It appears that ...