Expanding the ataxia with oculomotor apraxia type 4 phenotype

by Paucar, Martin, Malmgren, Helena, Taylor, Malcolm, Reynolds, John J., Svenningsson, Per, Press, Rayomand, Nordgren, Ann
Published 2016

Erratum

by Wincent, Josephine, Luthman, Aron, van Belzen, Martine, van der Lans, Christian, Albert, Johanna, Nordgren, Ann, Anderlid, Britt‐Marie
Published 2016

CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome

by Wincent, Josephine, Luthman, Aron, van Belzen, Martine, van der Lans, Christian, Albert, Johanna, Nordgren, Ann, Anderlid, Britt‐Marie
Published 2015

Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association

by Winberg, Johanna, Gustavsson, Peter, Papadogiannakis, Nikos, Sahlin, Ellika, Bradley, Frideborg, Nordenskjöld, Edvard, Svensson, Pär-Johan, Annerén, Göran, Iwarsson, Erik, Nordgren, Ann, Nordenskjöld, Agneta
Published 2014

Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries

by Lundin, Catarina, Forestier, Erik, Klarskov Andersen, Mette, Autio, Kirsi, Barbany, Gisela, Cavelier, Lucia, Golovleva, Irina, Heim, Sverre, Heinonen, Kristiina, Hovland, Randi, Johannsson, Johann H, Kjeldsen, Eigil, Nordgren, Ann, Palmqvist, Lars, Johansson, Bertil
Published 2014

Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease

by Laurell, Tobias, Nilsson, Daniel, Hofmeister, Wolfgang, Lindstrand, Anna, Ahituv, Nadav, Vandermeer, Julia, Amilon, Anders, Annerén, Göran, Arner, Marianne, Pettersson, Maria, Jäntti, Nina, Rosberg, Hans-Eric, Cattini, Peter A, Nordenskjöld, Agneta, Mäkitie, Outi, Grigelioniene, Giedre, Nordgren, Ann
Published 2014

DNA methylation-based subtype prediction for pediatric acute lymphoblastic leukemia

by Nordlund, Jessica, Bäcklin, Christofer L, Zachariadis, Vasilios, Cavelier, Lucia, Dahlberg, Johan, Öfverholm, Ingegerd, Barbany, Gisela, Nordgren, Ann, Övernäs, Elin, Abrahamsson, Jonas, Flaegstad, Trond, Heyman, Mats M, Jónsson, Ólafur G, Kanerva, Jukka, Larsson, Rolf, Palle, Josefine, Schmiegelow, Kjeld, Gustafsson, Mats G, Lönnerholm, Gudmar, Forestier, Erik, Syvänen, Ann-Christine
Published 2015

A SWI/SNF related autism syndrome caused by de novo mutations in ADNP

by Helsmoortel, Céline, Vulto-van Silfhout, Anneke T., Coe, Bradley P., Vandeweyer, Geert, Rooms, Liesbeth, van den Ende, Jenneke, Schuurs-Hoeijmakers, Janneke H.M., Marcelis, Carlo L., Willemsen, Marjolein H., Vissers, Lisenka E.L.M., Yntema, Helger G., Bakshi, Madhura, Wilson, Meredith, Witherspoon, Kali T, Malmgren, Helena, Nordgren, Ann, Annerén, Göran, Fichera, Marco, Bosco, Paolo, Romano, Corrado, de Vries, Bert B.A., Kleefstra, Tjitske, Kooy, R. Frank, Eichler, Evan E., Van der Aa, Nathalie
Published 2014

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

by Ockeloen, Charlotte W, Willemsen, Marjolein H, de Munnik, Sonja, van Bon, Bregje WM, de Leeuw, Nicole, Verrips, Aad, Kant, Sarina G, Jones, Elizabeth A, Brunner, Han G, van Loon, Rosa LE, Smeets, Eric EJ, van Haelst, Mieke M, van Haaften, Gijs, Nordgren, Ann, Malmgren, Helena, Grigelioniene, Giedre, Vermeer, Sascha, Louro, Pedro, Ramos, Lina, Maal, Thomas JJ, van Heumen, Celeste C, Yntema, Helger G, Carels, Carine EL, Kleefstra, Tjitske
Published 2015

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

by Ockeloen, Charlotte W, Willemsen, Marjolein H, de Munnik, Sonja, van Bon, Bregje WM, de Leeuw, Nicole, Verrips, Aad, Kant, Sarina G, Jones, Elizabeth A, Brunner, Han G, van Loon, Rosa LE, Smeets, Eric EJ, van Haelst, Mieke M, van Haaften, Gijs, Nordgren, Ann, Malmgren, Helena, Grigelioniene, Giedre, Vermeer, Sascha, Louro, Pedro, Ramos, Lina, Maal, Thomas JJ, van Heumen, Celeste C, Yntema, Helger G, Carels, Carine EL, Kleefstra, Tjitske
Published 2015