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by Postmus, Iris and Trompet, Stella and Deshmukh, Harshal A and Barnes, Michael R and Li, Xiaohui and Warren, Helen R and Chasman, Daniel I and Zhou, Kaixin and Arsenault, Benoit J and Donnelly, Louise A and Wiggins, Kerri L and Avery, Christy L and Griffin, Paula and Feng, QiPing and Taylor, Kent D and Li, Guo and Evans, Daniel S and Smith, Albert V and de Keyser, Catherine E and Johnson, Anew D and de Craen, Anton J. M and Stott, David J and Buckley, Brendan M and Ford, Ian and Westendorp, Rudi G. J and Slagboom, P. Eline and Sattar, Naveed and Munroe, Patricia B and Sever, Peter and Poulter, Neil and Stanton, Alice and Shields, Denis C and O'Brien, Eoin and Shaw-Hawkins, Sue and Chen, Y.-D. Ida and Nickerson, Deborah A and Smith, Joshua D and Dubé, Marie Pierre and Boekholdt, S. Matthijs and Hovingh, G. Kees and Kastelein, John J. P and McKeigue, Paul M and Betteridge, John and Neil, Anew and Durrington, Paul N and Doney, Alex and Carr, Fiona and Morris, Anew and McCarthy, Mark I and Groop, Leif and Welcome Trust Case Control Consort and Welcome Trust Case Control Consortium and Data and Analysis Group and DNA, Genotyping, Data QC and Informatics Group and Membership of Wellcome Trust Case Control Consortium and Publications Committee and Sahlgrenska akademin and Göteborgs universitet and Institutionen för medicin, avdelningen för samhällsmedicin och folkhälsa, enheten för arbets-och miljömedicin and Gothenburg University and Institute of Medicine, Department of Public Health and Community Medicine, Section of Occupational and environmental medicine and Sahlgrenska Academy
Nature communications, ISSN 2041-1723, 2014, Volume 5, Issue 1, p. 5068
Journal Article
by Hu, H and Haas, S.A and Chelly, J and Esch, H. Van and Raynaud, M and Brouwer, A.P. de and Weinert, S and Froyen, G and Frints, S.G and Laumonnier, F and Zemojtel, T and Love, M.I and Richard, H and Emde, A.K and Bienek, M and Jensen, C and Hambrock, M and Fischer, U and Langnick, C and Feldkamp, M and Wissink, W.M and Lebrun, N and Castelnau, L and Rucci, J and Montjean, R and Dorseuil, O and Billuart, P and Stuhlmann, T and Shaw, M and Corbett, M.A and Gardner, A and Willis-Owen, S and Tan, C and Friend, K.L and Belet, S and Roozendaal, K.E. van and Jimenez-Pocquet, M and Moizard, M.P and Ronce, N and Sun, R and O'Keeffe, S and Chenna, R and Bommel, A. van and Goke, J and Hackett, A and Field, M and Christie, L and Boyle, J and Haan, E and Nelson, J and Turner, G and Baynam, G and Gillessen-Kaesbach, G and Muller, U and Steinberger, D and Budny, B and Badura-Stronka, M and Latos-Bielenska, A and Ousager, L.B and Wieacker, P and Roiguez Criado, G and Bondeson, M.L and Anneren, G and Dufke, A and Cohen, M and Maldergem, L. Van and Vincent-Delorme, C and Echenne, B and Simon-Bouy, B and Kleefstra, T and Willemsen, M.H and Fryns, J.P and Devriendt, K and Ullmann, R and Vingron, M and Wrogemann, K and Wienker, T.F and Tzschach, A and Bokhoven, H. van and Gecz, J and Jentsch, T.J and Chen, W and Ropers, H.H and Kalscheuer, V.M and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Uppsala universitet and Medicinsk genetik och genomik
Molecular Psychiatry, ISSN 1359-4184, 2016, Volume 21, Issue 1, pp. 133 - 148
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID... 
LYSOSOMAL STORAGE DISEASE | HOMEODOMAIN TRANSCRIPTION FACTORS | PSYCHIATRY | BIOCHEMISTRY & MOLECULAR BIOLOGY | SPINE MORPHOGENESIS | AUTISM SPECTRUM DISORDERS | RIBOSOME BIOGENESIS | NEUROSCIENCES | LINKED MENTAL-RETARDATION | DE-NOVO MUTATIONS | NEURITE OUTGROWTH | MARTIN-PROBST SYNDROME | CHLORIDE CHANNEL | Neurons - pathology | Humans | Histone Acetyltransferases - genetics | Male | Chloride Channels - genetics | RNA, Messenger - metabolism | Genetic Variation | Transcription Factor TFIID - genetics | Mental Retardation, X-Linked - genetics | Adult | Neurons - metabolism | Cyclin-Dependent Kinases - genetics | Nuclear Proteins - genetics | Intracellular Signaling Peptides and Proteins - genetics | Microfilament Proteins - genetics | Cells, Cultured | TATA-Binding Protein Associated Factors - genetics | Mice, Knockout | Chloride Channels - metabolism | Animals | Adaptor Proteins, Signal Transducing - genetics | Adolescent | High-Throughput Nucleotide Sequencing | Ubiquitin-Protein Ligases - genetics | Cohort Studies | Complications and side effects | Usage | Care and treatment | Genetic aspects | Nucleotide sequencing | Mental retardation | DNA sequencing | Original | Basic Medicine | Neurosciences | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinsk bioteknologi | Klinisk medicin | Medical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy) | Medicinsk bioteknologi (med inriktning mot cellbiologi (inklusive stamcellsbiologi), molekylärbiologi, mikrobiologi, biokemi eller biofarmaci) | Medical Biotechnology | Clinical Medicine | Medicinska och farmaceutiska grundvetenskaper | Psykiatri | Psychiatry | Neurovetenskaper
Journal Article
by Ghoussaini, Maya and Fletcher, Olivia and Michailidou, Kyriaki and Turnbull, Clare and Schmidt, Marjanka K and Dicks, Ed and Dennis, Joe and Wang, Qin and Humphreys, Manjeet K and Luccarini, Craig and Baynes, Caroline and Conroy, Don and Maranian, Melanie and Ahmed, Shahana and ver, Kristy and Johnson, Nichola and Orr, Nicholas and dos Santos Silva, Isabel and Waisfisz, Quinten and Meijers-Heijboer, Hanne and Uitterlinden, Ane G and Rivadeneira, Fernando and Hall, Per and Czene, Kamila and Irwanto, Astrid and Liu, Jianjun and Nevanlinna, Heli and Aittomäki, Kristiina and Blomqvist, Carl and Meindl, Alfons and Schmutzler, Rita K and Müller-Myhsok, Bertram and Lichtner, Peter and Chang-Claude, Jenny and Hein, Rebecca and Nickels, Stefan and Flesch-Janys, Dieter and Tsimiklis, Helen and Makalic, Enes and Schmidt, Daniel and Bui, Minh and Hopper, John L and Apicella, Carmel and Park, Daniel J and Southey, Melissa and Hunter, David J and Chanock, Stephen J and Broeks, Annegien and Verhoef, Senno and Hogervorst, Frans B. L and Fasching, Peter A and Lux, Michael P and Beckmann, Matthias W and Ekici, Arif B and Sawyer, Elinor and Tomlinson, Ian and Kerin, Michael and Marme, Frederik and Schneeweiss, Aneas and Sohn, Christof and Burwinkel, Barbara and Guénel, Pascal and Truong, Thérèse and Cordina-Duverger, Emilie and Menegaux, Florence and Bojesen, Stig E and Nordestgaard, Børge G and Nielsen, Sune F and Flyger, Henrik and Milne, Roger L and Alonso, M. Rosario and González-Neira, Anna and Benítez, Javier and Anton-Culver, Hoda and Ziogas, Argyrios and Bernstein, Leslie and Dur, Christina Clarke and Brenner, Hermann and Müller, Heiko and Arndt, Volker and Stegmaier, Christa and Justenhoven, Christina and Brauch, Hiltrud and Brüning, Thomas and Wang-Gohrke, Shan and Eilber, Ursula and Dörk, Thilo and Schürmann, Peter and Bremer, Michael and Hillemanns, Peter and Bogdanova, Natalia V and Antonenkova, Natalia N and Rogov, Yuri I and Karstens, Johann H and Bermisheva, Marina and Prokofieva, Darya and Khusnutdinova, Elza and Lindblom, Annika and Margolin, Sara and Mannermaa, Arto and ... and Netherlands Collaborative Grp Here and Gene Environm Interaction Breast C and Australian Ovarian Canc Study Grp and kConFab Investigators and FBCS and Australian Ovarian Cancer Study Group and Netherlands Collaborative Group on Hereditary Breast and Ovarian Cancer (HEBON) and Familial Breast Cancer Study (FBCS) and Gene Environment Interaction of Breast Cancer in Germany (GENICA) Network and The Gene Environment Interaction of Breast Cancer in Germany (GENICA) Network
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 3, pp. 312 - U120
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2012, Volume 49, Issue 10, pp. 660 - 668
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 05/2016, Volume 374, Issue 19, pp. 1831 - 1841
Journal Article
Journal Article
American Journal of Respiratory and Critical Care Medicine, ISSN 1073-449X, 10/2016, Volume 194, Issue 7, pp. 831 - 844
Journal Article
by Sodergren, Erica and Weinstock, George M and Davidson, Eric H and Cameron, R. Andrew and Gibbs, Richard A and Angerer, Robert C and Angerer, Lynne M and Arnone, Maria Ina and Burgess, David R and Burke, Robert D and Coffman, James A and Dean, Michael and Elphick, Maurice R and Ettensohn, Charles A and Foltz, Kathy R and Hamdoun, Amro and Hynes, Richard O and Klein, William H and Marzluff, William and McClay, David R and Morris, Robert L and Mushegian, Arcady and Rast, Jonathan P and Smith, L. Courtney and Thorndyke, Michael C and Vacquier, Victor D and Wessel, Gary M and Wray, Greg and Zhang, Lan and Elsik, Christine G and Ermolaeva, Olga and Hlavina, Wratko and Hofmann, Gretchen and Kitts, Paul and Landrum, Melissa J and Mackey, Aaron J and Maglott, Donna and Panopoulou, Georgia and Poustka, Albert J and Pruitt, Kim and Sapojnikov, Victor and Song, Xingzhi and Souvorov, Alexandre and Solovyev, Victor and Wei, Zheng and Whittaker, Charles A and Worley, Kim and Durbin, K. James and Shen, Yufeng and Fedrigo, Olivier and Garfield, David and Haygood, Ralph and Primus, Alexander and Satija, Rahul and Severson, Tonya and Gonzalez-Garay, Manuel L and Jackson, Andrew R and Milosavljevic, Aleksandar and Tong, Mark and Killian, Christopher E and Livingston, Brian T and Wilt, Fred H and Adams, Nikki and Bellé, Robert and Carbonneau, Seth and Cheung, Rocky and Cormier, Patrick and Cosson, Bertrand and Croce, Jenifer and Fernandez-Guerra, Antonio and Genevière, Anne-Marie and Goel, Manisha and Kelkar, Hemant and Morales, Julia and Mulner-Lorillon, Odile and Robertson, Anthony J and Goldstone, Jared V and Cole, Bryan and Epel, David and Gold, Bert and Hahn, Mark E and Howard-Ashby, Meredith and Scally, Mark and Stegeman, John J and Allgood, Erin L and Cool, Jonah and Judkins, Kyle M and McCafferty, Shawn S and Musante, Ashlan M and Obar, Robert A and Rawson, Amanda P and Rossetti, Blair J and Gibbons, Ian R and Hoffman, Matthew P and Leone, Andrew and Istrail, Sorin and Materna, Stefan C and Samanta, Manoj P and Stolc, Viktor and Tongprasit, Waraporn and ... and Sea Urchin Genome Sequencing Consortium and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Medicinsk utvecklingsbiologi and Uppsala universitet and Institutionen för neurovetenskap
Science, ISSN 0036-8075, 11/2006, Volume 314, Issue 5801, pp. 941 - 952
Journal Article