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Proceedings of the Hawaii International Conference on System Sciences, ISSN 1060-3425, 2004, Volume 37, pp. 531 - 542
Conference Proceeding
JAMA - Journal of the American Medical Association, ISSN 0098-7484, 07/2018, Volume 320, Issue 1, pp. 33 - 34
The article discusses the personal experiences of the author, a physician, while riding home on a bicycle against a 30-mile-per-hour headwind. The importance... 
MEDICINE, GENERAL & INTERNAL | Health counseling | Personal narratives | Congenital heart disease | Physicians | Medical genetics | Pediatrics | Medical treatment | Cytogenetics | Child care | Chromosomes | Gestational age | Chromosome aberrations | Index Medicus | Abridged Index Medicus
Journal Article
PLOS ONE, ISSN 1932-6203, 02/2018, Volume 13, Issue 2
Nephronophthisis-related ciliopathies (NPHP-RC) are a group of disorders that present with end-stage renal failure in childhood/adolescence, kidney cysts,... 
JOUBERT-SYNDROME | GENE | PSEUDOMONAS-AERUGINOSA | MULTIDISCIPLINARY SCIENCES | BARDET-BIEDL-SYNDROME | NEPHRONOPHTHISIS | CILIOPATHY | EPILYSIN MMP-28 | MICE | MUTATIONS | CENTROSOMAL PROTEIN
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 08/2017, Volume 26, Issue 1, pp. R1 - R1
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 05/2012, Volume 21, Issue 9, pp. 1945 - 1953
There are numerous genes for which loss-of-function mutations do not produce apparent phenotypes even though statistically significant quantitative changes to... 
COUPLED-RECEPTORS | POLYCYSTIC KIDNEY-DISEASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | HUMAN OBESITY SYNDROME | MOUSE MODEL | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | PLANAR CELL POLARITY | SYNDROME GENE | INTRAFLAGELLAR TRANSPORT | HEDGEHOG SIGNAL-TRANSDUCTION | PRIMARY CILIA | Bardet-Biedl Syndrome - metabolism | Microtubule-Associated Proteins - genetics | Receptors, G-Protein-Coupled - metabolism | Microtubule-Associated Proteins - metabolism | Humans | Hedgehog Proteins - metabolism | Male | Transfection | Hedgehog Proteins - genetics | Smoothened Receptor | Tumor Suppressor Proteins - genetics | Bardet-Biedl Syndrome - genetics | Female | Patched Receptors | Recombinant Proteins - metabolism | Tumor Suppressor Proteins - metabolism | Signal Transduction | Cells, Cultured | Mutant Proteins - genetics | Receptors, Cell Surface - metabolism | Mutant Proteins - metabolism | Recombinant Proteins - genetics | Cilia - metabolism | Mice, Knockout | Pregnancy | Phenotype | Animals | Mice | Receptors, G-Protein-Coupled - genetics | Patched-1 Receptor | Receptors, Cell Surface - genetics | Edema | Limbs | Obesity | retinal degeneration | Retinopathy | Statistical analysis | Diabetes mellitus | Bardet-Biedl syndrome | Lethality | Embryos | Kidney | Patched protein | Hereditary diseases | Embryogenesis | Hedgehog protein | Infertility | Exencephaly | Polydactyly | Cilia | Index Medicus
Journal Article
MOLECULAR PSYCHIATRY, ISSN 1359-4184, 03/2005, Volume 10, Issue 3, pp. 287 - 298
The catechol-O-methyl transferase ( COMT) gene is considered a leading schizophrenia candidate gene. Although its role in increasing schizophrenia... 
DORSOLATERAL PREFRONTAL CORTEX | COMT GENE | MRI | RHESUS-MONKEYS | PSYCHIATRY | DOPAMINERGIC RECEPTORS | BIOCHEMISTRY & MOLECULAR BIOLOGY | endophenotype | NO EVIDENCE | NEUROSCIENCES | COGNITIVE FUNCTION | TWINS DISCORDANT | candidate gene | association study | ANTIPSYCHOTIC-DRUGS | HUMAN-BRAIN | METHYLTRANSFERASE-GENE | dopamine | PET
Journal Article
Cell, ISSN 0092-8674, 2011, Volume 145, Issue 4, pp. 513 - 528
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 09/2011, Volume 121, Issue 9, pp. 3542 - 3553
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2012, Volume 109, Issue 48, pp. 19691 - 19696
Journal Article
by Aad, G and Abbott, B and Abdallah, J and Abdinov, O and Aben, R and Abolins, M and AbouZeid, OS and Abramowicz, H and Abreu, H and Abreu, R and Abulaiti, Y and Acharya, BS and Adamczyk, L and Adams, DL and Adelman, J and Adomeit, S and Adye, T and Affolder, AA and Agatonovic-Jovin, T and Aguilar-Saavedra, JA and Ahlen, SP and Ahmadov, F and Aielli, G and Akerstedt, H and Akesson, TPA and Akimoto, G and Akimov, AV and Alberghi, GL and Albert, J and Albrand, S and Verzini, MJA and Aleksa, M and Aleksandrov, IN and Alexa, C and Alexander, G and Alexopoulos, T and Alhroob, M and Alimonti, G and Alio, L and Alison, J and Alkire, SP and Allbrooke, BMM and Allport, PP and Aloisi, A and Alonso, A and Alonso, F and Alpigiani, C and Altheimer, A and Gonzalez, BA and Piqueras, DA and Alviggi, MG and Amadio, BT and Amako, K and Coutinho, YA and Amelung, C and Amidei, D and Dos Santos, SPA and Amorim, A and Amoroso, S and Amram, N and Amundsen, G and Anastopoulos, C and Ancu, LS and Andari, N and Andeen, T and Anders, CF and Anders, G and Anders, JK and Anderson, KJ and Andreazza, A and Andrei, V and Angelidakis, S and Angelozzi, I and Anger, P and Angerami, A and Anghinolfi, F and Anisenkov, AV and Anjos, N and Annovi, A and Antonelli, M and Antonov, A and Antos, J and Anulli, F and Aoki, M and Bella, LA and Arabidze, G and Arai, Y and Araque, JP and Arce, ATH and Arduh, FA and Arguin, JF and Argyropoulos, S and Arik, M and Armbruster, AJ and Arnaez, O and Arnal, V and Arnold, H and Arratia, M and Arslan, O and Artamonov, A and ... and Fysikum and Naturvetenskapliga fakulteten and Stockholms universitet and Oskar Klein-centrum för kosmopartikelfysik (OKC)
PHYSICAL REVIEW LETTERS, ISSN 0031-9007, 05/2015, Volume 114, Issue 19
A measurement of the Higgs boson mass is presented based on the combined data samples of the ATLAS and CMS experiments at the CERN LHC in the H -> gamma gamma... 
PHYSICS, MULTIDISCIPLINARY | BROKEN SYMMETRIES | GAUGE | Fysik | Physical Sciences | Naturvetenskap | Natural Sciences
Journal Article
by Gillberg, Christopher and Kolevzon, Alexander and Nelson, Stanley F and Sansom, Katherine and Casallo, Guillermo and Miller, Judith and Brennan, Sean and Leboyer, Marion and Bacchelli, Elena and Delorme, Richard and Fombonne, Eric and Hallmayer, Joachim and Green, Jonathan and Pickles, Andrew and Heron, Elizabeth A and Salt, Jeff and Battaglia, Agatino and Klauck, Sabine M and McDougle, Christopher J and Mahoney, William and Noor, Abdul and Cytrynbaum, Cheryl and Sato, Daisuke and Almeida, Joana and Korvatska, Olena and Dawson, Geraldine and Bierut, Laura J and Coon, Hilary and Rickaby, Jessica and Freitag, Christine M and Roeder, Kathryn and Bader, Gary D and Wijsman, Ellen M and Vincent, John B and Hakonarson, Hakon and Segurado, Ricardo and Paton, Tara and Roge, Bernadette and Ennis, Sean and Kim, Cecilia and Monaco, Anthony P and Paterson, Andrew D and Crossett, Andrew and McGrath, Jane and Carson, Andrew R and Le Couteur, Ann and Cook, Edwin H and Chung, Brian H.Y and Cuccaro, Michael L and Van Engeland, Herman and Conroy, Judith and Holt, Richard and Strawbridge, Christina and Kustanovich, Vlad and Migita, Ohsuke and Stoppioni, Vera and Igliozzi, Roberta and Poustka, Fritz and Stein, Olaf and Posey, David J and Sheffield, Val C and Duque, Frederico and Parrini, Barbara and Berney, Tom and Hus, Vanessa and Baird, Gillian and Duketis, Eftichia and Soorya, Latha and Corsello, Christina and Drmic, Irene and Sousa, Inês and Abrahams, Brett S and Thomson, Susanne and Lajonchere, Clara M and Tsiantis, John and Pinto, Dalila and Green, Andrew and Hughes, Gillian and Mantoulan, Carine and Betancur, Catalina and Volkmar, Fred and Poustka, Annemarie and Shah, Naisha and Bryson, Susan E and Munson, Jeff and Tancredi, Raffaella and Nygren, Gudrun and Wittemeyer, Kerstin and Merikangas, Alison and Oliveira, Guiomar and Farrar, Penny and Maestrini, Elena and Liu, Xiao-Qing and Gallagher, Louise and McConachie, Helen and Zurawiecki, Danielle and Schellenberg, Gerard D and Glessner, Joseph T and Lord, Catherine and Piven, Joseph and ... and Sahlgrenska akademin and Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi and Göteborgs universitet and Gothenburg University and Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry and Sahlgrenska Academy
Nature, ISSN 0028-0836, 07/2010, Volume 466, Issue 7304, pp. 368 - 372
Journal Article