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1. Full Text Recurrent structural malformations identified among Mowat-Wilson syndrome fetuses
: Malformations of Mowat-Wilson fetuses
by Zhou, Yan and Huang, Jin and Cheng, Yvonne Kwun Yue and Leung, Tak Yeung and Pooh, Ritsuko K and Lo, Fai Man and Choy, Kwong Wai
Prenatal Diagnosis, ISSN 0197-3851, 03/2014, Volume 34, Issue 3, pp. 296 - 298
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2. Full Text Recurrent structural malformations identified among Mowat–Wilson syndrome fetuses
by Zhou, Yan and Huang, Jin and Cheng, Yvonne Kwun Yue and Leung, Tak Yeung and Pooh, Ritsuko K and Lo, Fai Man and Choy, Kwong Wai
Prenatal Diagnosis, ISSN 0197-3851, 03/2014, Volume 34, Issue 3, pp. 296 - 298
What ' s already known about this topic ? Mowat–Wilson syndrome (MWS) (OMIM#235730) is a genetic disease caused by mutations or deletions of the ZEB2 gene and... 
PHENOTYPE | DELINEATION | DISEASE | GENETICS & HEREDITY | OBSTETRICS & GYNECOLOGY | Pregnancy | Young Adult | Hirschsprung Disease - diagnosis | Humans | Intellectual Disability - diagnosis | Prenatal Diagnosis | Facies | Microcephaly - diagnosis | Female | Fetuses | Down syndrome
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3. Full Text Second-Trimester Detection of Mowat-Wilson Syndrome Using Comparative Genomic Hybridization Microarray Testing
by Choy, Kwong Wai and To, Ka Fai and Chan, Anthony Wing Hung and Lau, Tze Kin and Leung, Tak Yeung
Obstetrics & Gynecology, ISSN 0029-7844, 02/2010, Volume 115, Issue 2, Part 2 Suppl, pp. 462 - 465
BACKGROUND:Fetuses with increased nuchal translucency but apparently normal karyotypes may have small genetic defects that are undetectable by conventional... 
INCREASED NUCHAL TRANSLUCENCY | RESOLUTION ARRAY CGH | OBSTETRICS & GYNECOLOGY | Pregnancy Trimester, Second | Humans | Repressor Proteins - genetics | Zinc Finger E-box Binding Homeobox 2 | Homeodomain Proteins - genetics | Syndrome | Abortion, Induced | Pregnancy | Comparative Genomic Hybridization | Microarray Analysis | Abnormalities, Multiple - diagnosis | Gene Deletion | Karyotyping | Nuchal Translucency Measurement | Adult | Female | Chromosomes, Human, Pair 1 - genetics | Abnormalities, Multiple - genetics | Chromosome Inversion - genetics
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4. Full Text Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity
by Mak, Chloe Miu and Lam, Ching-Wan and Tam, Sidney and Lai, Ching-Lung and Chan, Lik-Yuen and Fan, Sheung-Tat and Lau, Yu-Lung and Lai, Jak-Yiu and Yuen, Patrick and Hui, Joannie and Fu, Chun-Cheung and Wong, Ka-Sing and Mak, Wing-Lai and Tze, Kong and Tong, Sui-Fan and Lau, Abby and Leung, Nancy and Hui, Aric and Cheung, Ka-Ming and Ko, Chun-Hung and Chan, Yiu-Ki and Ma, Oliver and Chau, Tai-Nin and Chiu, Alexander and Chan, Yan-Wo
Journal of Human Genetics, ISSN 1434-5161, 01/2008, Volume 53, Issue 1, pp. 55 - 63
Wilson disease (WD), an autosomal recessive disorder of copper transport, is the most common inherited liver disorder in Hong Kong Chinese. This was the first... 
Human Genetics | Neurosciences | Wilson disease | Genotype | Cell Biology | Novel mutation | Biomedicine | Immunology | ATP7B | p.R778L founder mutation | Cancer Research | Molecular Medicine | Hong Kong Chinese | Haplotype | P.R778L founder mutation | POPULATION | DIAGNOSIS | haplotype | ARG778LEU MUTATION | KOREAN PATIENTS | genotype | PHENOTYPE CORRELATION | novel mutation | MOLECULAR PATHOLOGY | FREQUENCY | GENETICS & HEREDITY | JAPANESE PATIENTS | ATP7B GENE | Haplotypes | Asian Continental Ancestry Group | Hong Kong | DNA Mutational Analysis | Gene Frequency | Humans | Hepatolenticular Degeneration - genetics | Mutation | Genetic Heterogeneity | Linkage Disequilibrium | Polymerase chain reaction | Genetic research | Genetic aspects | Gene mutations | Analysis
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5. Full Text Performance of the ATLAS Trigger System in 2010
by Aad, G and et al., [Unknown] and Bentvelsen, S and Bobbink, G.J and Bos, K and Boterenbrood, H and Colijn, A.P and Daum, C and de Jong, P and de Nooij, L and Doxiadis, A.D and Ferrari, P and Garitaonandia, H and Geerts, D.A.A and Gosselink, M and Hartjes, F and Hessey, N.P and Igonkina, O and Kayl, M.S and Klous, S and Kluit, P and Koffeman, E and Koutsman, A and Lee, H and Linde, F and Luijckx, G and Massaro, G and Mechnich, J and Muijs, A and Mussche, I and Ottersbach, J.P and Peters, O and Reichold, A and Rijpstra, M and Ruckstuhl, N and Snuverink, J and Ta, D and Tsiakiris, M and Turlay, E and van der Graaf, H and van der Kraaij, E and van der Leeuw, R and van der Poel, E and van Eijk, B and van Kesteren, Z and van Vulpen, I and Verkerke, W and Vermeulen, J.C and Vreeswijk, M and ATLAS Collaboration and The ATLAS Collaboration and Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States) and Lund University and Partikelfysik and Lunds universitet and Particle Physics
European Physical Journal C, ISSN 1434-6044, 2012, Volume 72, Issue 1, pp. 1 - 61
Proton-proton collisions at √s = 7 TeV and heavy ion collisions at √(sNN) = 2.76 TeV were produced by the LHC and recorded using the ATLAS experiment’s trigger... 
Measurement Science and Instrumentation | Nuclear Physics, Heavy Ions, Hadrons | Nuclear Energy | Quantum Field Theories, String Theory | Physics | Elementary Particles, Quantum Field Theory | Astronomy, Astrophysics and Cosmology | PHYSICS, PARTICLES & FIELDS | Collisions (Nuclear physics) | Protons | Heavy ions | Leptons | Particle collisions | Ionic collisions | Signatures | Atomic collisions | Physics - High Energy Physics - Experiment | High Energy Physics - Experiment | PHYSICS OF ELEMENTARY PARTICLES AND FIELDS | Fysik | Subatomär fysik | Physical Sciences | Subatomic Physics | Naturvetenskap | Natural Sciences
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6. Full Text Electron performance measurements with the ATLAS detector using the 2010 LHC proton-proton collision data
by Aad, G and Chelstowska, M.A and Consonni, M and Groot, N. de and Filthaut, F and Klok, P.F and Konig, A.C and Koetsveld, F and Raas, M and Salvucci, A and Timmermans, C and ATLAS Collaboration and The ATLAS Collaboration and BROOKHAVEN NATIONAL LABORATORY (BNL) and Partikel- och astropartikelfysik and Skolan för teknikvetenskap (SCI) and KTH and Fysik
European Physical Journal C, ISSN 1434-6044, 2012, Volume 72, Issue 3, pp. 1 - 46
Detailed measurements of the electron performance of the ATLAS detector at the LHC are reported, using decays of the Z, W and J/ψ particles. Data collected in... 
Nuclear Physics, Heavy Ions, Hadrons | Measurement Science and Instrumentation | Nuclear Energy | Quantum Field Theories, String Theory | Physics | Elementary Particles, Quantum Field Theory | Astronomy, Astrophysics and Cosmology | ELECTROMAGNETIC CALORIMETER | PHYSICS, PARTICLES & FIELDS | Measurement | Electromagnetism | Collisions (Nuclear physics) | Detectors | Electrons | Protons | Large Hadron Collider | Particle collisions | Linearity | Particle decay | Luminosity | Sensors | Electron energy | Physics - High Energy Physics - Experiment | High Energy Physics - Experiment | LUMINOSITY | PHYSICS OF ELEMENTARY PARTICLES AND FIELDS | PROBABILITY | ELECTRONS | PERFORMANCE | RESOLUTION | Fysik | Subatomär fysik | Physical Sciences | Subatomic Physics | Naturvetenskap | Natural Sciences
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7. Full Text Search for dark matter candidates and large extra dimensions in events with a jet and missing transverse momentum with the ATLAS detector
by Aad, G and Besjes, G.J and Caron, S and Chelstowska, M.A and Groot, N. de and Filthaut, F and Klok, P.F and König, A.C and Koetsveld, F and Raas, M and Salvucci, A and The ATLAS collaboration and Partikel- och astropartikelfysik and Skolan för teknikvetenskap (SCI) and KTH and Fysik
Journal of High Energy Physics, ISSN 1126-6708, 2013, Volume 2013, Issue 4, pp. 1 - 51
A search for new phenomena in events with a high-energy jet and large missing transverse momentum is performed using data from proton-proton collisions at $... 
Hadron-Hadron Scattering | Quantum Physics | Quantum Field Theories, String Theory | Classical and Quantum Gravitation, Relativity Theory | Physics | Elementary Particles, Quantum Field Theory | CONSTRAINTS | MODEL | SYMMETRY-BREAKING | PHYSICS, PARTICLES & FIELDS | Large Hadron Collider | Dark matter | Searching | Collisions | Kinematics | Transverse momentum | Luminosity | Physics - High Energy Physics - Experiment | High Energy Physics - Experiment | Fysik | Physical Sciences | Naturvetenskap | Natural Sciences
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8. Full Text The ATLAS simulation infrastructure
by Aad, G and et al., [Unknown] and Bentvelsen, S and Bobbink, G.J and Bos, K and Boterenbrood, H and Colijn, A.P and de Jong, P and Doxiadis, A and Ferrari, P and Garitaonandia, H and Gosselink, M and Hartjes, F and Hessey, N.P and Igonkina, O and Kayl, M.S and Klous, S and Kluit, P and Koffeman, E and Koutsman, A and Lee, H and Liebig, W and Mechnich, J and Mussche, I and Ottersbach, J.P and Rijpstra, M and Ruckstuhl, N and Salamanna, G and Sandstroem, R and Snuverink, J and Tsiakiris, M and Turlay, E and van der Graaf, H and van der Kraaij, E and van der Poel, E and van Kesteren, Z and van Vulpen, I and Verkerke, W and Vermeulen, J.C and Vreeswijk, M and ATLAS Collaboration and The ATLAS Collaboration and Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States) and Partikel- och astropartikelfysik and Skolan för teknikvetenskap (SCI) and KTH and Fysik
European Physical Journal C, ISSN 1434-6044, 2010, Volume 70, Issue 3, pp. 823 - 874
The simulation software for the ATLAS Experiment at the Large Hadron Collider is being used for large-scale production of events on the LHC Computing Grid.... 
Measurement Science and Instrumentation | Nuclear Physics, Heavy Ions, Hadrons | Quantum Field Theories, String Theory | Physics | Astronomy, Astrophysics and Cosmology | Elementary Particles, Quantum Field Theory | MONTE-CARLO | LIBRARY | PARTON | EVENT | TILE CALORIMETER | PHYSICS, PARTICLES & FIELDS | Usage | Software | Collisions (Nuclear physics) | Synthetic training devices | Infrastructure (Economics) | Models | Detectors | Simulation | Large Hadron Collider | Particle collisions | Computer simulation | Infrastructure | Hadrons | Packages | Computer programs | Instrumentation and Detectors | High Energy Physics - Experiment | PARTICLE ACCELERATORS | MATHEMATICS AND COMPUTING | Fysik | Physical Sciences | Naturvetenskap | Natural Sciences
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9. Full Text New genetic loci link adipose and insulin biology to body fat distribution
by Shungin, Dmitry and Winkler, Thomas W and Croteau-Chonka, Damien C and Ferreira, Teresa and Locke, Adam E and Mägi, Reedik and Strawbridge, Rona J and Pers, Tune H and Fischer, Krista and Justice, Anne E and Workalemahu, Tsegaselassie and Wu, Joseph M. W and Buchkovich, Martin L and Heard-Costa, Nancy L and Roman, Tamara S and ng, Alexander W and Song, Ci and Gustafsson, Stefan and Day, Felix R and Esko, Tonu and Fall, Tove and Kutalik, Zoltán and Luan, Jian'an and Randall, Joshua C and Scherag, Ané and Vedantam, Sailaja and Wood, Anew R and Chen, Jin and Fehrmann, Rudolf and Karjalainen, Juha and Kahali, Bratati and Liu, Ching-Ti and Schmidt, Ellen M and Absher, Devin and Amin, Najaf and Anderson, Denise and Beekman, Marian and Bragg-Gresham, Jennifer L and Buyske, Steven and Demirkan, Ayse and Ehret, Georg B and Feitosa, Mary F and Goel, Anuj and Jackson, Anne U and Johnson, Toby and Kleber, Marcus E and Kristiansson, Kati and Mangino, Massimo and Mateo Leach, Irene and Medina-Gomez, Carolina and Palmer, Cameron D and Pasko, Dorota and Pechlivanis, Sonali and Peters, Marjolein J and Prokopenko, Inga and Stančáková, Alena and Ju Sung, Yun and Tanaka, Toshiko and Teumer, Alexander and van Vliet-Ostaptchouk, Jana V and Yengo, Loïc and Zhang, Weihua and Albrecht, Eva and Ärnlöv, Johan and Arscott, Gillian M and Bandinelli, Stefania and Barrett, Amy and Bellis, Claire and Bennett, Amanda J and Berne, Christian and Blüher, Matthias and Böhringer, Stefan and Bonnet, Fabrice and Böttcher, Yvonne and Bruinenberg, Marcel and Carba, Delia B and Caspersen, Ida H and Clarke, Robert and Daw, E. Warwick and Deelen, Joris and Deelman, Ewa and Delgado, Graciela and Doney, Alex S. F and Eklund, Niina and Erdos, Michael R and Estrada, Karol and Eury, Elodie and Frieich, Nele and Garcia, Melissa E and Gieaitis, Vilmantas and Gigante, Bruna and Go, Alan S and Golay, Alain and Grallert, Harald and Grammer, Tanja B and Gräßler, Jürgen and Grewal, Jagvir and Groves, Christopher J and Haller, Toomas and Hallmans, Goran and ... and PAGE Consortium and LifeLines Cohort Study and CARDIOGRAMplusC4D Consortium and MuTHER Consortium and ICBP and ADIPOGEN Consortium and CKDGen Consortium and GEFOS Consortium and Int Endogene Consortium and GENIE Consortium and MAGIC Investigators and ReproGen Consortium and GLGC and ADIPOGen Consortium and International Endogene Consortium and The PAGE Consortium and The International Endogene Consortium and The MAGIC Investigators and The ReproGen Consortium and The CKDGen Consortium and The ADIPOGen Consortium and The ICBP and The CARDIOGRAMplusC4D Consortium and The GENIE Consortium and The GLGC and The GEFOS Consortium and The MuTHER Consortium and The LifeLines Cohort Study and Högskolan Dalarna and Akademin Utbildning, hälsa och samhälle and Medicinsk vetenskap
Nature, ISSN 0028-0836, 2015, Volume 518, Issue 7538, pp. 187 - U378
Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our... 
HUMAN HEIGHT | ABDOMINAL ADIPOSITY | MULTIDISCIPLINARY SCIENCES | COMMON SNPS | SUSCEPTIBILITY LOCI | GLYCEMIC TRAITS | FALSE DISCOVERY | MESENCHYMAL STEM-CELLS | GENOME-WIDE ASSOCIATION | ADIPOGENIC DIFFERENTIATION | SEXUAL-DIMORPHISM | Body Mass Index | Genome-Wide Association Study | Age Factors | Neovascularization, Physiologic - genetics | Epigenesis, Genetic | Humans | Male | Continental Population Groups - genetics | Sex Characteristics | Obesity - genetics | Europe - ethnology | Genome, Human - genetics | Adipose Tissue - metabolism | Insulin - metabolism | Models, Biological | Adipocytes - metabolism | Insulin Resistance - genetics | Polymorphism, Single Nucleotide - genetics | Female | Body Fat Distribution | Transcription, Genetic - genetics | Adipogenesis - genetics | Waist-Hip Ratio | Quantitative Trait Loci - genetics | Adipose tissues | Quantitative trait loci | Genetic research | Genetic aspects | Research | Metabolism | Health aspects | Studies | Body mass index | Genealogy | Body fat | Insulin resistance | Genetics | Genomes | Abdomen | Meta-analysis | Life Sciences | Adipocytes/metabolism Adipogenesis/genetics Adipose Tissue/metabolism Age Factors Body Fat Distribution Body Mass Index Continental Population Groups/genetics Epigenesis, Genetic Europe/ethnology Female Genome, Human/genetics Genome-Wide Association Study Humans Insulin/metabolism Insulin Resistance/genetics Male Models, Biological Neovascularization, Physiologic/genetics Obesity/genetics Polymorphism, Single Nucleotide/genetics Quantitative Trait Loci/genetics Sex Characteristics Transcription, Genetic/genetics Waist-Hip Ratio | Clinical Medicine | Hälsa och välfärd | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap | Health and Welfare
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