Resultados de procura - Ann Nordgren
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p53 controls genomic stability and temporal differentiation of human neural stem cells and affects neural organization in human brain organoids por Ana Marín Navarro, Robin Pronk, Astrid Tjitske van der Geest, Ganna Oliynyk, Ann Nordgren, Marie Arsenian‐Henriksson, Anna Falk, Margareta Wilhelm
Publicado 2020Artigo -
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The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia por Kajsa Paulsson, Henrik Lilljebjörn, Andrea Biloglav, Linda Olsson, Marianne Rissler, Anders Castor, Gisela Barbany, Linda Fogelstrand, Ann Nordgren, Helene Sjögren, Thoas Fioretos, Bertil Johansson
Publicado 2015Artigo -
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The clinical impact of <i><scp>IKZF</scp>1</i> deletions in paediatric B‐cell precursor acute lymphoblastic leukaemia is independent of minimal residual disease stratification in N... por Linda Olsson, Ingegerd Öfverholm, Ulrika Norén‐Nyström, Vasilios Zachariadis, Jessica Nordlund, Helene Sjögren, Irina Golovleva, Ann Nordgren, Kajsa Paulsson, Mats Heyman, Gisela Barbany, Bertil Johansson
Publicado 2015Artigo -
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Precision medicine in rare diseases: What is next? por Bianca Tesi, Cathérine Boileau, Kym M. Boycott, Guillaume Canaud, Mark J. Caulfield, Daniela Choukair, Sue Hill, Malte Spielmann, Anna Wedell, Valtteri Wirta, Ann Nordgren, Anna Lindstrand
Publicado 2023Revisão -
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Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features por Emma Tham, Anna Lindstrand, Avni Santani, Helena Malmgren, Addie I. Nesbitt, Holly Dubbs, Elaine H. Zackai, Michael Parker, Francisca Millan, Kenneth N. Rosenbaum, Golder N. Wilson, Ann Nordgren
Publicado 2015Artigo -
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Outcome of <i>ETV6/RUNX1</i>‐positive childhood acute lymphoblastic leukaemia in the NOPHO‐ALL‐1992 protocol: frequent late relapses but good overall survival por Erik Forestier, Mats Heyman, Mette K. Andersen, K. Autio, Elisabeth Blennow, Georg Borgström, Irina Golovleva, Sverre Heim, Kristina Heinonen, Randi Hovland, Jóhann Heiðar Jóhannsson, Gitte Kerndrup, Ann Nordgren, Richard Rosenquist, Birgitta Swolin, Bertil Johansson
Publicado 2008Artigo -
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High modal number and triple trisomies are highly correlated favorable factors in childhood B-cell precursor high hyperdiploid acute lymphoblastic leukemia treated according to the... por Kajsa Paulsson, Erik Forestier, Mette Klarskov Andersen, K. Autio, Gisela Barbany, G.H. Borgström, Lucia Cavelier, Irina Golovleva, Sverre Heim, Kristiina Heinonen, Randi Hovland, Jóhann Heiðar Jóhannsson, Eigil Kjeldsen, Ann Nordgren, Lars Palmqvist, Bertil Johansson
Publicado 2013Artigo -
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Molecular and clinical delineation of the 17q22 microdeletion phenotype por Tobias Laurell, Johanna Lundin, Britt-Marie Anderlid, Jerome L. Gorski, Giedre Grigelioniené, Samantha J.L. Knight, Ana Cristina Victorino Krepischi, Agneta Nordenskjöld, Susan Price, Carla Rosenberg, Peter D. Turnpenny, Angela Maria Vianna‐Morgante, Ann Nordgren
Publicado 2013Artigo -
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The Roots of Autism and ADHD Twin Study in Sweden (RATSS) por Sven Bölte, Charlotte Willfors, Steve Berggren, Joakim Norberg, Lina Poltrago, Katell Mevel, Christina Coco, Peter Fransson, Jacqueline Borg, Rouslan Sitnikov, Roberto Toro, Kristiina Tammimies, Britt‐Marie Anderlid, Ann Nordgren, Anna Falk, Urs Meyer, Juha Kere, Mikael Landén, Christina Dalman, Angelica Ronald, Henrik Anckarsäter, Paul Lichtenstein
Publicado 2014Artigo -
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DNA methylation-based subtype prediction for pediatric acute lymphoblastic leukemia por Jessica Nordlund, Christofer Bäcklin, Vasilios Zachariadis, Lucia Cavelier, Johan Dahlberg, Ingegerd Öfverholm, Gisela Barbany, Ann Nordgren, Elin Övernäs, Jonas Abrahamsson, Trond Flægstad, Mats Heyman, Ólafur G. Jónsson, Jukka Kanerva, Rolf Larsson, Josefine Palle, Kjeld Schmiegelow, Mats G. Gustafsson, Gudmar Lönnerholm, Erik Forestier, Ann‐Christine Syvänen
Publicado 2015Artigo -
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Gain-of-function mutation of microRNA-140 in human skeletal dysplasia por Giedre Grigelioniené, Hiroshi Suzuki, Fulya Taylan, Fatemeh Mirzamohammadi, Zvi Borochowitz, Ugur M. Ayturk, Shay Tzur, Eva Horemuzova, Anna Lindstrand, Mary Ann Weis, Gintautas Grigelionis, Anna Hammarsjö, Elin Marsk, Ann Nordgren, Magnus Nordenskjöld, David W. Eyre, Matthew L. Warman, Gen Nishimura, Phillip A. Sharp, Tatsuya Kobayashi
Publicado 2019Artigo -
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The transcriptional regulator <i>ADNP</i> links the BAF (SWI/SNF) complexes with autism por Geert Vandeweyer, Céline Helsmoortel, Anke Van Dijck, Anneke T. Vulto‐van Silfhout, Bradley P. Coe, Raphael Bernier, Jennifer Gerdts, Liesbeth Rooms, Jenneke van den Ende, Madhura Bakshi, Meredith Wilson, Ann Nordgren, Laura G. Hendon, Omar Abdul‐Rahman, Corrado Romano, Bert B.A. de Vries, Tjitske Kleefstra, Evan E. Eichler, Nathalie Van der Aa, R. Frank Kooy
Publicado 2014Artigo -
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Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability por Paul R. Kasher, Katherine E. Schertz, Megan Thomas, Adam Jackson, Silvia Annunziata, María Juliana Ballesta‐Martínez, Philippe M. Campeau, Peter Clayton, Jennifer L. Eaton, Tiziana Granata, Encarna Guillén‐Navarro, Cristina Hernándo, Caroline E. Laverriere, Agne Liedén, Olaya Villa-Marcos, Meriel McEntagart, Ann Nordgren, Chiara Pantaleoni, Céline Pebrel‐Richard, Catherine Sarret, Francesca L. Sciacca, Ronnie Wright, Bronwyn Kerr, Eric Glasgow, Siddharth Banka
Publicado 2016Artigo -
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From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intell... por Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson, Claudia M.B. Carvalho, Malin Kvarnung, Giedre Grigelioniené, Britt‐Marie Anderlid, Olof Bjerin, Peter Gustavsson, Anna Hammarsjö, Patrik Georgii‐Hemming, Erik Iwarsson, Maria Soller, Kristina Lagerstedt‐Robinson, Agne Liedén, Måns Magnusson, Marcel Martin, Helena Malmgren, Magnus Nordenskjöld, Ameli Norling, Ellika Sahlin, Henrik Stranneheim, Emma Tham, Josephine Wincent, Sofia Ygberg, Anna Wedell, Valtteri Wirta, Ann Nordgren, Johanna Lundin, Daniel Nilsson
Publicado 2019Artigo -
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Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway por Rocío Acuña‐Hidalgo, Denny Schanze, Ariana Kariminejad, Ann Nordgren, Mohamad Hasan Kariminejad, Peter Conner, Giedre Grigelioniené, Daniel Nilsson, Magnus Nordenskjöld, Anna Wedell, Christoph Freyer, Anna Wredenberg, Dagmar Wieczorek, Gabriele Gillessen‐Kaesbach, Hülya Kayserili, Nursel Elçioğlu, Siavash Ghaderi‐Sohi, Payman Goodarzi, Hamidreza Setayesh, Maartje van de Vorst, Marloes Steehouwer, Rolph Pfundt, Birgit Krabichler, Cynthia J. Curry, Malcolm G. MacKenzie, Kym M. Boycott, Christian Gilissen, Andreas Janecke, Alexander Hoischen, Martin Zenker
Publicado 2014Artigo
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Biology
Genetics
Gene
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Autism
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Autism spectrum disorder
Intellectual disability
Neurodevelopmental disorder
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