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by Taylor, Jenny C and Martin, Hilary C and Lise, Stefano and Broxholme, John and Cazier, Jean-Baptiste and Rimmer, Andy and Kanapin, Alexander and Lunter, Gerton and Fiddy, Simon and Allan, Chris and Aricescu, A. Radu and Attar, Moustafa and Babbs, Christian and Becq, Jennifer and Beeson, David and Bento, Celeste and Bignell, Patricia and Blair, Edward and Buckle, Veronica J and Bull, Katherine and Cais, Ondrej and Cario, Holger and Chapel, Helen and Copley, Richard R and Cornall, Richard and Craft, Jude and Dahan, Karin and Davenport, Emma E and Dendrou, Calliope and Devuyst, Olivier and Fenwick, Aimée L and Flint, Jonathan and Fugger, Lars and Gilbert, Rodney D and Goriely, Anne and Green, Angie and Greger, Ingo H and Grocock, Russell and Gruszczyk, Anja V and Hastings, Robert and Hatton, Edouard and Higgs, Doug and Hill, Adrian and Holmes, Chris and Howard, Malcolm and Hughes, Linda and Humburg, Peter and Johnson, David and Karpe, Fredrik and Kingsbury, Zoya and Kini, Usha and Knight, Julian C and Krohn, Jonathan and Lamble, Sarah and Langman, Craig and Lonie, Lorne and Luck, Joshua and McCarthy, Davis and McGowan, Simon J and McMullin, Mary Frances and Miller, Kerry A and Murray, Lisa and Németh, Andrea H and Nesbit, M. Andrew and Nutt, David and Ormondroyd, Elizabeth and Bang Oturai, Annette and Pagnamenta, Alistair and Patel, Smita Y and Percy, Melanie and Petousi, Nayia and Piazza, Paolo and Piret, Sian E and Polanco-Echeverry, Guadalupe and Popitsch, Niko and Powrie, Fiona and Pugh, Chris and Quek, Lynn and Robbins, Peter A and Robson, Kathryn and Russo, Alexandra and Sahgal, Natasha and Van Schouwenburg, Pauline A and Schuh, Anna and Silverman, Earl and Simmons, Alison and Sorensen, Per Soelberg and Sweeney, Elizabeth and Taylor, John and Thakker, Rajesh V and Tomlinson, Ian and Trebes, Amy and Twigg, Stephen R. F and Uhlig, Holm H and Vyas, Paresh and Vyse, Tim and Wall, Steven A and Watkins, Hugh and Whyte, Michael P and Witty, Lorna and ...
Nature Genetics, ISSN 1061-4036, 06/2015, Volume 47, Issue 7, pp. 717 - 726
Journal Article
by Mark D. Adams and Susan E. Celniker and Robert A. Holt and Cheryl A. Evans and Jeannine D. Gocayne and Peter G. Amanatides and Steven E. Scherer and Peter W. Li and Roger A. Hoskins and Richard F. Galle and Reed A. George and Suzanna E. Lewis and Stephen Richards and Michael Ashburner and Scott N. Henderson and Granger G. Sutton and Jennifer R. Wortman and Mark D. Yandell and Qing Zhang and Lin X. Chen and Rhonda C. Brandon and Yu-Hui C. Rogers and Robert G. Blazej and Mark Champe and Barret D. Pfeiffer and Kenneth H. Wan and Clare Doyle and Evan G. Baxter and Gregg Helt and Catherine R. Nelson and George L. Gabor Miklos and Josep F. Abril and Anna Agbayani and Hui-Jin An and Cynthia Andrews-Pfannkoch and Danita Baldwin and Richard M. Ballew and Anand Basu and James Baxendale and Leyla Bayraktaroglu and Ellen M. Beasley and Karen Y. Beeson and P. V. Benos and Benjamin P. Berman and Deepali Bhandari and Slava Bolshakov and Dana Borkova and Michael R. Botchan and John Bouck and Peter Brokstein and Phillipe Brottier and Kenneth C. Burtis and Dana A. Busam and Heather Butler and Edouard Cadieu and Angela Center and Ishwar Chandra and J. Michael Cherry and Simon Cawley and Carl Dahlke and Lionel B. Davenport and Peter Davies and Beatriz de Pablos and Arthur Delcher and Zuoming Deng and Anne Deslattes Mays and Ian Dew and Suzanne M. Dietz and Kristina Dodson and Lisa E. Doup and Michael Downes and Shannon Dugan-Rocha and Boris C. Dunkov and Patrick Dunn and Kenneth J. Durbin and Carlos C. Evangelista and Concepcion Ferraz and Steven Ferriera and Wolfgang Fleischmann and Carl Fosler and Andrei E. Gabrielian and Neha S. Garg and William M. Gelbart and Ken Glasser and Anna Glodek and Fangcheng Gong and J. Harley Gorrell and Zhiping Gu and Ping Guan and Michael Harris and Nomi L. Harris and Damon Harvey and Thomas J. Heiman and Judith R. Hernandez and Jarrett Houck and Damon Hostin and Kathryn A. Houston and Timothy J. Howland and Ming-Hui Wei and Chinyere Ibegwam and ...
Science, ISSN 0036-8075, 3/2000, Volume 287, Issue 5461, pp. 2185 - 2195
Journal Article
1992, Studies on Voltaire and the eighteenth century, ISBN 0729404382, Volume 299, vii, 304
Book
by Braun, Daniela A and Rao, Jia and Mollet, Geraldine and Schapiro, David and Daugeron, Marie-Claire and Tan, Weizhen and Gribouval, Olivier and Boyer, Olivia and Revy, Patrick and Jobst-Schwan, Tilman and Schmidt, Johanna Magdalena and Lawson, Jennifer A and Schanze, Denny and Ashraf, Shazia and Ullmann, Jeremy F P and Hoogstraten, Charlotte A and Boddaert, Nathalie and Collinet, Bruno and Martin, Gaëlle and Liger, Dominique and Lovric, Svjetlana and Furlano, Monica and Guerrera, I Chiara and Sanchez-Ferras, Oraly and Hu, Jennifer F and Boschat, Anne-Claire and Sanquer, Sylvia and Menten, Björn and Vergult, Sarah and De Rocker, Nina and Airik, Merlin and Hermle, Tobias and Shril, Shirlee and Widmeier, Eugen and Gee, Heon Yung and Choi, Won-Il and Sadowski, Carolin E and Pabst, Werner L and Warejko, Jillian K and Daga, Ankana and Basta, Tamara and Matejas, Verena and Scharmann, Karin and Kienast, Sana D and Behnam, Babak and Beeson, Brendan and Begtrup, Amber and Bruce, Malcolm and Ch'ng, Gaik-Siew and Lin, Shuan-Pei and Chang, Jui-Hsing and Chen, Chao-Huei and Cho, Megan T and Gaffney, Patrick M and Gipson, Patrick E and Hsu, Chyong-Hsin and Kari, Jameela A and Ke, Yu-Yuan and Kiraly-Borri, Cathy and Lai, Wai-Ming and Lemyre, Emmanuelle and Littlejohn, Rebecca Okashah and Masri, Amira and Moghtaderi, Mastaneh and Nakamura, Kazuyuki and Ozaltin, Fatih and Praet, Marleen and Prasad, Chitra and Prytula, Agnieszka and Roeder, Elizabeth R and Rump, Patrick and Schnur, Rhonda E and Shiihara, Takashi and Sinha, Manish D and Soliman, Neveen A and Soulami, Kenza and Sweetser, David A and Tsai, Wen-Hui and Tsai, Jeng-Daw and Topaloglu, Rezan and Vester, Udo and Viskochil, David H and Vatanavicharn, Nithiwat and Waxler, Jessica L and Wierenga, Klaas J and Wolf, Matthias T F and Wong, Sik-Nin and Leidel, Sebastian A and Truglio, Gessica and Dedon, Peter C and Poduri, Annapurna and Mane, Shrikant and Lifton, Richard P and Bouchard, Maxime and Kannu, Peter and Chitayat, David and Magen, Daniella and Callewaert, Bert and van Tilbeurgh, Herman and Zenker, Martin and ...
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 10, pp. 1529 - 1529
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly... 
YEAST | UNFOLDED PROTEIN RESPONSE | TRANSFER-RNA MODIFICATION | DNA | KINASE | SECKEL-SYNDROME | GENOME MAINTENANCE | WDR73 | GALLOWAY-MOWAT SYNDROME | MASS-SPECTROMETRY | GENETICS & HEREDITY | Metalloendopeptidases - genetics | Protein-Serine-Threonine Kinases - deficiency | Microcephaly - genetics | Humans | Metalloendopeptidases - deficiency | Apoptosis - genetics | Multiprotein Complexes - genetics | Nephrotic Syndrome - genetics | DNA Repair - genetics | Telomere Homeostasis - genetics | Endoplasmic Reticulum Stress - genetics | Intracellular Signaling Peptides and Proteins - deficiency | Hernia, Hiatal - genetics | Intracellular Signaling Peptides and Proteins - genetics | Podocytes - metabolism | RNA, Transfer - metabolism | Protein-Serine-Threonine Kinases - genetics | Models, Molecular | Nephrotic Syndrome - pathology | Zebrafish | Cytoskeleton - ultrastructure | Nephrosis - genetics | Gene Knockout Techniques | Carrier Proteins - genetics | Podocytes - ultrastructure | Zebrafish Proteins - deficiency | Animals | RNA Processing, Post-Transcriptional - genetics | CRISPR-Cas Systems | Protein Conformation | Mice | Mutation | Zebrafish Proteins - genetics | Cell Movement | Genetic disorders | Gene mutations | Development and progression | Nephrotic syndrome | Genetic aspects | Microcephaly | Health aspects | Cell proliferation | Brain | CRISPR | Genes | DNA damage | Genomes | Lethality | Kinases | Proteins | Genotype & phenotype | Microencephaly | Actin | Biopsy | Cytoskeleton | Scientific imaging | Endoplasmic reticulum | Mass spectrometry | Deoxyribonucleic acid--DNA | Apoptosis | Life Sciences
Journal Article
The Year book of medicine, ISSN 0093-3635
Journal
1977, Major problems in internal medicine, ISBN 9780721616506, Volume 14, xii, 269
Book
Journal of the National Cancer Institute, ISSN 0027-8874, 01/2007, Volume 99, Issue 19, pp. 1471 - 1483
Journal Article
by Lundqvist, Andreas and van Hoef, Vincent and Zhang, Xiaonan and Wennerberg, Erik and Lorent, Julie and Witt, Kristina and Sanz, Laia Masvidal and Liang, Shuo and Murray, Shannon and Larsson, Ola and Kiessling, Rolf and Mao, Yumeng and Sidhom, John-William and Bessell, Catherine A and Havel, Jonathan and Schneck, Jonathan and Chan, Timothy A and Sachsenmeier, Eliot and Woods, David and Berglund, Anders and Ramakrishnan, Rupal and Sodre, Andressa and Weber, Jeffrey and Zappasodi, Roberta and Li, Yanyun and Qi, Jingjing and Wong, Philip and Sirard, Cynthia and Postow, Michael and Newman, Walter and Koon, Henry and Velcheti, Vamsidhar and Callahan, Margaret K and Wolchok, Jedd D and Merghoub, Taha and Lum, Lawrence G and Choi, Minsig and Thakur, Archana and Deol, Abhinav and Dyson, Gregory and Shields, Anthony and Haymaker, Cara and Uemura, Marc and Murthy, Ravi and James, Marihella and Wang, Daqing and Brevard, Julie and Monaghan, Catherine and Swann, Suzanne and Geib, James and Cornfeld, Mark and Chunduru, Srinivas and Agrawal, Sudhir and Yee, Cassian and Wargo, Jennifer and Patel, Sapna P and Amaria, Rodabe and Tawbi, Hussein and Glitza, Isabella and Woodman, Scott and Hwu, Wen-Jen and Davies, Michael A and Hwu, Patrick and Overwijk, Willem W and Bernatchez, Chantale and Diab, Adi and Massarelli, Erminia and Segal, Neil H and Ribrag, Vincent and Melero, Ignacio and Gangadhar, Tara C and Urba, Walter and Schadendorf, Dirk and Ferris, Robert L and Houot, Roch and Morschhauser, Franck and Logan, Theodore and Luke, Jason J and Sharfman, William and Barlesi, Fabrice and Ott, Patrick A and Mansi, Laura and Kummar, Shivaani and Salles, Gilles and Carpio, Cecilia and Meier, Roland and Krishnan, Suba and McDonald, Dan and Maurer, Matthew and Gu, Xuemin and Neely, Jaclyn and Suryawanshi, Satyendra and Levy, Ronald and Khushalani, Nikhil and Wu, Jennifer and Zhang, Jinyu and Basher, Fahmin and Rubinstein, Mark and Bucsek, Mark and Qiao, Guanxi and ...
Journal for ImmunoTherapy of Cancer, ISSN 2051-1426, 11/2016, Volume 4, Issue S1
Journal Article
BMJ (British Medical Journal), ISSN 0959-535X, 11/2010, Volume 341, Issue 7782, pp. 1079 - 1079
Neurologists and paediatricians call for action on "massive" rises in the prices of orphan drugs. Adapted from the source document. 
Journal Article
Current Opinion in Neurology, ISSN 1350-7540, 2016, Volume 29, Issue 5, pp. 565 - 571
Purpose of reviewCongenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding proteins... 
Congenital myasthenic syndromes | Collagen 13A1 | N-glycosylation pathway | Salbutamol, presynaptic | collagen 13A1 | AGRIN | MUSK | presynaptic | salbutamol | GDP-MANNOSE PYROPHOSPHORYLASE | LRP4 | GLYCOSYLATION | NEUROSCIENCES | DEFICIENCY | CLINICAL NEUROLOGY | NEUROMUSCULAR-TRANSMISSION | LIMB | MUTATIONS CAUSE | congenital myasthenic syndromes
Journal Article
1988, ISBN 0262111225, x, 469
Book
1984, ISBN 9780312052249, 175
Book
2012, A Sage reference publication, ISBN 1412996023, xvii, 569
This issues-based reference work (available in both print and electronic formats) shines a spotlight on health care policy and practice in the United States.... 
Medical policy | Moral and ethical aspects | Medical economics | Public health | Politics & government | Public health - Moral and ethical aspects - United States
Book