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Human mutation, ISSN 1059-7794, 2011, Volume 32, Issue 4, pp. 407 - 414
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 07/2008, Volume 16, Issue 7, pp. 804 - 811
Journal Article
by Thompson, Bryony A and Spurdle, Amanda B and Plazzer, John-Paul and Greenblatt, Marc S and Akagi, Kiwamu and Al-Mulla, Fahd and Bapat, Bharati and Bernstein, Inge and Capellá, Gabriel and den Dunnen, Johan T and du Sart, Desiree and Fabre, Aurelie and Farrell, Michael P and Farrington, Susan M and Frayling, Ian M and Frebourg, Thierry and Goldgar, David E and Heinen, Christopher D and Holinski-Feder, Elke and Kohonen-Corish, Maija and Robinson, Kristina Lagerstedt and Leung, Suet Yi and Martins, Alexana and Moller, Pal and Morak, Monika and Nystrom, Minna and Peltomaki, Paivi and Pineda, Marta and Qi, Ming and Ramesar, Rajkumar and Rasmussen, Lene Juel and Royer-Pokora, Brigitte and Scott, Rodney J and Sijmons, Rolf and Tavtigian, Sean V and Tops, Carli M and Weber, Thomas and Wijnen, Juul and Woods, Michael O and Macrae, Finlay and Genuardi, Maurizio and Castillejo, Adela and Sexton, Aienne and Chan, Anthony K. W and Viel, Alessana and Blanco, Amie and French, Amy and Laner, Aneas and Wagner, Anja and van den Ouweland, Ans and Mensenkamp, Arjen and Payá, Artemio and Betz, Beate and Redeker, Bert and Smith, Betsy and Espenschied, Carin and Cummings, Carole and Engel, Christoph and Fornes, Claudia and Valenzuela, Cristian and Alenda, Cristina and Buchanan, Daniel and Barana, Daniela and Konstantinova, Darina and Cairns, Dianne and Glaser, Elizabeth and Silva, Felipe and Lalloo, Fiona and Crucianelli, Francesca and Hogervorst, Frans and Casey, Graham and Tomlinson, Ian and Blanco, Ignacio and Villar, Isabel López and Garcia-Planells, Javier and Bigler, Jeanette and Shia, Jinru and Martinez-Lopez, Joaquin and Gille, Johan J. P and Hopper, John and Potter, John and Soto, José Luis and Kantelinen, Jukka and Ellis, Kate and Mann, Kirsty and Varesco, Liliana and Zhang, Liying and Le Marchand, Loic and Marafie, Makia J and Nordling, Margareta and Tibiletti, Maria Grazia and Kahan, Mariano Ariel and Ligtenberg, Marjolijn and Clendenning, Mark and Jenkins, Mark and Speevak, Marsha and Digweed, Martin and Kloor, Matthias and Hitchins, Megan and Myers, Megan and ... and InSiGHT and on behalf of InSiGHT and Sahlgrenska akademin and Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik and Göteborgs universitet and Gothenburg University and Institute of Biomedicine, Department of Medical and Clinical Genetics and Sahlgrenska Academy
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 2, pp. 107 - 115
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 6, p. e20464
Journal Article
2001, The Kluwer international series in engineering and computer science, ISBN 9780792372431, Volume SECS 600, xvii, 431
Current database technology and computer hardware allow us to gather, store, access, and manipulate massive volumes of raw data in an efficient and inexpensive... 
Data mining | Database searching | Knowledge acquisition (Expert systems) | Data structures (Computer scienc | IT in Business | Information technology | Artificial intelligence | Data Structures and Information Theory
Book
BMC Gastroenterology, ISSN 1471-230X, 09/2010, Volume 10, Issue 1, pp. 112 - 112
Journal Article
Blood, ISSN 0006-4971, 12/2016, Volume 128, Issue 22, pp. 3447 - 3447
Abstract Introduction An "ideal" marker to monitor MRD after allo-SCT should be informative in the majority of pts and facilitate the use of a method with high... 
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2013, Volume 161, Issue 6, pp. 1453 - 1458
We describe a female patient with mild lissencephaly (pachygyria), severe intellectual disability, and facial dysmorphisms with an inverted 1.4 Mb... 
YWHAE | lissencephaly | 17p13.3 duplication | PAFAH1B1 | Lissencephaly | NEURONAL MIGRATION | DUPLICATIONS | TIBIA | MILLER-DIEKER-SYNDROME | GENE | MOLECULAR DIAGNOSIS | MICRODELETIONS | GENETICS & HEREDITY | MALFORMATION-SEVERITY | MUTATIONS | DELETIONS | Lissencephaly - diagnosis | Sequence Inversion - genetics | Microtubule-Associated Proteins - genetics | Humans | DNA, Complementary - genetics | Infant | Developmental Disabilities - genetics | Chromosome Duplication - genetics | Nervous System Malformations - diagnostic imaging | Lissencephaly - diagnostic imaging | Classical Lissencephalies and Subcortical Band Heterotopias - diagnostic imaging | Intellectual Disability - genetics | RNA - genetics | Developmental Disabilities - diagnostic imaging | 1-Alkyl-2-acetylglycerophosphocholine Esterase - genetics | Chromosome Disorders - diagnosis | Chromosome Disorders - diagnostic imaging | Female | Muscle Hypotonia | Nervous System Malformations - genetics | Developmental Disabilities - diagnosis | 14-3-3 Proteins - genetics | Classical Lissencephalies and Subcortical Band Heterotopias - genetics | Introns - genetics | Classical Lissencephalies and Subcortical Band Heterotopias - diagnosis | In Situ Hybridization, Fluorescence | Sequence Analysis, DNA | Haploinsufficiency | DNA - genetics | Radiography | DNA - chemistry | Phenotype | Comparative Genomic Hybridization | Intellectual Disability - diagnosis | Nervous System Malformations - diagnosis | Lissencephaly - genetics | DNA, Complementary - chemistry | Chromosome Disorders - genetics | Encephalopathy | Autism
Journal Article
Oncotarget, ISSN 1949-2553, 06/2018, Volume 9, Issue 45, pp. 27882 - 27894
Azacitidine is the first drug to demonstrate a survival benefit for patients with MDS. However, only half of patients respond and almost all patients... 
Azacitidine | Targeted therapy | Hypomethylating agents | Myelodysplastic syndromes | Response prediction
Journal Article
International Journal of Cancer, ISSN 0020-7136, 04/2009, Volume 124, Issue 7, pp. 1727 - 1735
Journal Article