Discordant structural chromosomal aberrations in chorionic villi and amniotic fluid leading to a formation of an isochromosome 21: a case report

by Eini Westenius, Maria Pettersson, Erik Björck
Published 2021-06-01

Collaborative knotworking – transforming clinical teaching practice through faculty development

by Agnes Elmberger, Erik Björck, Juha Nieminen, Matilda Liljedahl, Klara Bolander Laksov
Published 2020-12-01

C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome

by Rebekka Gröbner, Ines Kapferer-Seebacher, Albert Amberger, Rita Redolfi, Fabien Dalonneau, Erik Björck, Erik Björck, Di Milnes, Isabelle Bally, Veronique Rossi, Nicole Thielens, Heribert Stoiber, Christine Gaboriaud, Johannes Zschocke
Published 2019-11-01

Corrigendum: C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome

by Rebekka Gröbner, Ines Kapferer-Seebacher, Albert Amberger, Rita Redolfi, Fabien Dalonneau, Erik Björck, Erik Björck, Di Milnes, Isabelle Bally, Veronique Rossi, Nicole Thielens, Heribert Stoiber, Christine Gaboriaud, Johannes Zschocke
Published 2019-12-01

Room for improvement: One third of Lynch syndrome patients presenting for genetic testing in a highly specialised centre in Stockholm already have cancer

by Sophie Walton Bernstedt, Jan Björk, Kaisa Fritzell, Allan D. Spigelman, Erik Björck, Ann-Sofie Backman
Published 2021-02-01

A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families

by Masoud Karimi, Jenny von Salomé, Christos Aravidis, Gustav Silander, Marie Stenmark Askmalm, Isabelle Henriksson, Samuel Gebre-Medhin, Jan-Erik Frödin, Erik Björck, Kristina Lagerstedt-Robinson, Annika Lindblom, Emma Tham
Published 2018-10-01

European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

by Ingrid M. B. H. van de Laar, Eloisa Arbustini, Bart Loeys, Erik Björck, Lise Murphy, Maarten Groenink, Marlies Kempers, Janneke Timmermans, Jolien Roos-Hesselink, Kalman Benke, Guglielmina Pepe, Barbara Mulder, Zoltan Szabolcs, Gisela Teixidó-Turà, Leema Robert, Yaso Emmanuel, Arturo Evangelista, Alessandro Pini, Yskert von Kodolitsch, Guillaume Jondeau, Julie De Backer
Published 2019-11-01

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

by Henrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, Malin Kvarnung, Daniel Nilsson, Nicole Lesko, Martin Engvall, Britt-Marie Anderlid, Henrik Arnell, Carolina Backman Johansson, Michela Barbaro, Erik Björck, Helene Bruhn, Jesper Eisfeldt, Christoph Freyer, Giedre Grigelioniene, Peter Gustavsson, Anna Hammarsjö, Maritta Hellström-Pigg, Erik Iwarsson, Anders Jemt, Mikael Laaksonen, Sara Lind Enoksson, Helena Malmgren, Karin Naess, Magnus Nordenskjöld, Mikael Oscarson, Maria Pettersson, Chiara Rasi, Adam Rosenbaum, Ellika Sahlin, Eliane Sardh, Tommy Stödberg, Bianca Tesi, Emma Tham, Håkan Thonberg, Virpi Töhönen, Ulrika von Döbeln, Daphne Vassiliou, Sofie Vonlanthen, Ann-Charlotte Wikström, Josephine Wincent, Ola Winqvist, Anna Wredenberg, Sofia Ygberg, Rolf H. Zetterström, Per Marits, Maria Johansson Soller, Ann Nordgren, Valtteri Wirta, Anna Lindstrand, Anna Wedell
Published 2021-03-01