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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
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
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 1/2010, Volume 107, Issue 4, pp. 1488 - 1493
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
Proceedings of the National Academy of Sciences, ISSN 0027-8424, 08/2011, Volume 108, Issue 34, pp. E569 - E576
Retinitis pigmentosa (RP) is a genetically heterogeneous heritable disease characterized by apoptotic death of photoreceptor cells. We used exome sequencing to... 
Retinal degeneration | Photoreceptor differentiation | Disease modeling | Next generation sequencing | retinal degeneration | next generation sequencing | PROTEIN-KINASE | MULTIDISCIPLINARY SCIENCES | disease modeling | ABCR | DISCOVERY | DEGENERATION | ALIGNMENT | DATABASE | MUTATIONS | photoreceptor differentiation | STARGARDT-DISEASE | Humans | Molecular Sequence Data | Jews - genetics | Point Mutation - genetics | Retinal Cone Photoreceptor Cells - enzymology | Retinitis Pigmentosa - complications | Isoenzymes - metabolism | Retinal Cone Photoreceptor Cells - pathology | Retinal Rod Photoreceptor Cells - enzymology | Cell Differentiation | Alu Elements - genetics | Genealogy and Heraldry | Induced Pluripotent Stem Cells - metabolism | Biomarkers - metabolism | Amino Acid Sequence | Protein-Serine-Threonine Kinases - genetics | Retinitis Pigmentosa - genetics | Exons - genetics | Organ Specificity | Sequence Analysis, DNA | Mutagenesis, Insertional - genetics | Cilia - genetics | Retinitis Pigmentosa - enzymology | Protein-Serine-Threonine Kinases - chemistry | Retinal Degeneration - enzymology | Retinal Rod Photoreceptor Cells - pathology | Retinal Degeneration - complications | Eye diseases | Mutation | Kinases | Stem cells | Apoptosis | Immunohistochemistry | Alternative splicing | Transcription | Exons | Retinitis pigmentosa | Insertion | Retina | Pathogenicity | Axons | Cones | Donors | Photoreceptors | Skin | Cell body | Index Medicus | Biological Sciences | PNAS Plus
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 09/2011, Volume 121, Issue 9, pp. 3542 - 3553
Journal Article
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 2014, Volume 124, Issue 5, pp. 1956 - 1965
Journal Article
12.