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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-Lindhout, W 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
Jpn J Appl Phys, ISSN 0021-4922, 4/2013, Volume 52, Issue 4, pp. 04CA03 - 04CA03-6
In this work we provide a comprehensive evaluation of a novel, low-resistance Co--Al alloy vs W to fill aggressively scaled gates with high aspect-ratios [gate... 
TRANSISTORS | PHYSICS, APPLIED | TEMPERATURE | LOGIC TECHNOLOGY | Voids | Stability | Direct current | Tungsten base alloys | Instability | Devices | Cobalt | Tuning | Gates
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 09/2018, Volume 26, Issue 9, pp. 1272 - 1281
Au-Kline syndrome (AKS, OMIM 616580) is a multiple malformation syndrome, first reported in 2015, associated with intellectual disability. AKS has been... 
KABUKI-SYNDROME | HNRNP K | CRANIOSYNOSTOSIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | DELETION | Literature reviews | Ribonucleoprotein K | Phenotypes | Congenital defects | Craniosynostosis | Nose | Patients
Journal Article
Microelectronic Engineering, ISSN 0167-9317, 2006, Volume 83, Issue 11, pp. 2303 - 2308
In this paper, we report on the integration of a spin-on low- material (ENSEMBLE™ PMD) at the pre-metal dielectric (PMD) level of CMOS logic circuits processed... 
Ring oscillator circuits | Delay | Low- k | Pre-metal dielectric | Low-k | ring oscillator circuits | PHYSICS, APPLIED | delay | low-k | pre-metal dielectric | NANOSCIENCE & NANOTECHNOLOGY | OPTICS | ENGINEERING, ELECTRICAL & ELECTRONIC
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2012, Volume 158A, Issue 10, pp. 2641 - 2642
Journal Article
by Sifrim, Alejandro and Hitz, Marc-Phillip and Wilsdon, Anna and Breckpot, Jeroen and Turki, Saeed H. Al and Thienpont, Bernard and McRae, Jeremy and Fitzgerald, Tomas W and Singh, Tarjinder and Swaminathan, Ganesh Jawahar and Prigmore, Elena and Rajan, Diana and Abdul-Khaliq, Hashim and Banka, Siddharth and Bauer, Ulrike M.M and Bentham, Jamie and Berger, Felix and Bhattacharya, Shoumo and Bu'Lock, Frances and Canham, Natalie and Colgiu, Irina-Gabriela and Cosgrove, Catherine and Cox, Helen and Daehnert, Ingo and Daly, Allan and Danesh, John and Fryer, Alan and Gewillig, Marc and Hobson, Emma and Hoff, Kirstin and Homfray, Tessa and Kahlert, Anne-Karin and Ketley, Ami and Kramer, Hans-Heiner and Lachlan, Katherine and Lampe, Anne Katrin and Louw, Jacoba J and Manickara, Ashok Kumar and Manase, Dorin and McCarthy, Karen P and Metcalfe, Kay and Moore, Carmel and Newbury-Ecob, Ruth and Omer, Seham Osman and Ouwehand, Willem H and Park, Soo-Mi and Parker, Michael J and Pickardt, Thomas and Pollard, Martin O and Robert, Leema and Roberts, David J and Sambrook, Jennifer and Setchfield, Kerry and Stiller, Brigitte and Thornborough, Chris and Toka, Okan and Watkins, Hugh and Williams, Denise and Wright, Michael and Mital, Seema and Daubeney, Piers E.F and Keavney, Bernard and Goodship, Judith and Abu-Sulaiman, Riyadh Mahdi and Klaassen, Sabine and Wright, Caroline F and Firth, Helen V and Barrett, Jeffrey C and Devriendt, Koenraad and Fitzpatrick, David R and Brook, J David and Hurles, Matthew E and INTERVAL Study and Deciphering Dev Disorders Study and UK10K Consortium and the INTERVAL Study and the Deciphering Developmental Disorders Study and the UK10K Consortium
Nature Genetics, ISSN 1061-4036, 09/2016, Volume 48, Issue 9, pp. 1060 - 1065
Congenital heart defects (CHDs) have a neonatal incidence of 0.8-1% (refs. 1,2). Despite abundant examples of monogenic CHD in humans and mice, CHD has a low... 
DE-NOVO MUTATIONS | GENOTYPE | DISEASE | GENETICS & HEREDITY | FRAMEWORK | RECURRENCE | DISCOVERY | Genetic variation | Exome sequencing | Development and progression | Congenital heart disease | Genetic aspects | Identification and classification | Health aspects | Methods | Heart | Medical research | Biomedical research | Congenital diseases | Funding | Genes | Genomics | Genomes | RNA polymerase | Kinases | Defects | Autism | Mutation
Journal Article
by Mefford, Heather C and Sharp, Anew J and Baker, Carl and Itsara, Andy and Jiang, Zhaoshi and Buysse, Karen and Huang, Shuwen and Maloney, Viv K and Crolla, John A and Baralle, Diana and Collins, Amanda and Mercer, Catherine and Norga, Koen and de Ravel, Thomy and Devriendt, Koen and Bongers, Ernie M. H. F and de Leeuw, Nicole and Reardon, William and Gimelli, Stefania and Bena, Frederique and Hennekam, Raoul C and Male, Alison and Gaunt, Lorraine and Clayton-Smith, Jill and Simonic, Ingrid and Park, Soo Mi and Mehta, Sarju G and Nik-Zainal, Serena and Woods, C. Geoffrey and Firth, Helen V and Parkin, Georgina and Fichera, Marco and Reitano, Santina and Lo Giudice, Mariangela and Li, Kelly E and Casuga, Iris and Broomer, Adam and Conrad, Bernard and Schwerzmann, Markus and Raber, Lorenz and Gallati, Sabina and Striano, Pasquale and Coppola, Antonietta and Tolmie, John L and Tobias, Edward S and Lilley, Chris and Armengol, Lluis and Spysschaert, Yves and Verloo, Patrick and de Coene, Anja and Goossens, Linde and Mortier, Geert and Speleman, Frank and van Binsbergen, Ellen and Nelen, Marcel R and Hochstenbach, Ron and Poot, Martin and Gallagher, Louise and Gill, Michael and McClellan, Jon and King, Mary-Claire and Regan, Regina and Skinner, Cindy and Stevenson, Roger E and Antonarakis, Stylianos E and Chen, Caifu and Estivill, Xavier and Menten, Bjorn and Gimelli, Giorgio and Gribble, Susan and Schwartz, Stuart and Sutcliffe, James S and Walsh, Tom and Knight, Samantha J. L and Sebat, Jonathan and Romano, Corrado and Schwartz, Charles E and Veltman, Joris A and de Vries, Bert B. A and Vermeesch, Joris R and Barber, John C. K and Willatt, Lionel and Tassabehji, May and Eichler, Evan E
New England journal of medicine, ISSN 0028-4793, 2008, Volume 359, Issue 16, pp. 1685 - U130
Journal Article
by Bateman, R M and Sharpe, M D and Jagger, J E and Ellis, C G and Solé-Violán, J and López-Rodríguez, M and Herrera-Ramos, E and Ruíz-Hernández, J and Borderías, L and Horcajada, J and González-Quevedo, N and Rajas, O and Briones, M and Rodríguez de Castro, F and Rodríguez Gallego, C and Esen, F and Orhun, G and Ergin Ozcan, P and Senturk, E and Ugur Yilmaz, C and Orhan, N and Arican, N and Kaya, M and Kucukerden, M and Giris, M and Akcan, U and Bilgic Gazioglu, S and Tuzun, E and Riff, R and Naamani, O and Douvdevani, A and Takegawa, R and Yoshida, H and Hirose, T and Yamamoto, N and Hagiya, H and Ojima, M and Akeda, Y and Tasaki, O and Tomono, K and Shimazu, T and Ono, S and Kubo, T and Suda, S and Ueno, T and Ikeda, T and Ogura, H and Takahashi, H and Kang, J and Nakamura, Y and Kojima, T and Ikeda, T and Suda, S and Izutani, Y and Ueno, T and Ono, S and Taniguchi, T and O, M and Dinter, C and Lotz, J and Eilers, B and Wissmann, C and Lott, R and Meili, M M and Schuetz, P S and Hawa, H and Sharshir, M and Aburageila, M and Salahuddin, N and Chantziara, V and Georgiou, S and Tsimogianni, A and Alexandropoulos, P and Vassi, A and Lagiou, F and Valta, M and Micha, G and Chinou, E and Michaloudis, G and Kodaira, A and Ikeda, T and Ono, S and Ueno, T and Suda, S and Izutani, Y and Imaizumi, H and De la Torre-Prados, M V and Garcia-De la Torre, A and Enguix-Armada, A and Puerto-Morlan, A and Perez-Valero, V and Garcia-Alcantara, A and Bolton, N and Dudziak, J and Bonney, S and Tridente, A and Nee, P and Nicolaes, G and Wiewel, M and Schultz, M and ...
Critical care (London, England), ISSN 1364-8535, 2016, Volume 20, Issue 1, p. 347
[This corrects the article DOI: 10.1186/s13054-016-1208-6.]. 
Journal Article
Critical Care, ISSN 1364-8535, 10/2016, Volume 20, Issue 1
  The online version of the original article can be found under doi:10.1186/s13054-016-1208-6. 
Journal Article