Search Results - Osborn, Daniel P. S.
- Showing 1 - 17 results of 17
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The Bardet–Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex by Cardenas-Rodriguez, Magdalena, Irigoín, Florencia, Osborn, Daniel P.S., Gascue, Cecilia, Katsanis, Nicholas, Beales, Philip L., Badano, Jose L.
Published 2013Text -
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Loss of FTO Antagonises Wnt Signaling and Leads to Developmental Defects Associated with Ciliopathies by Osborn, Daniel P. S., Roccasecca, Rosa Maria, McMurray, Fiona, Hernandez-Hernandez, Victor, Mukherjee, Sriparna, Barroso, Inês, Stemple, Derek, Cox, Roger, Beales, Philip L., Christou-Savina, Sonia
Published 2014Text -
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Bi-allelic mutations in MYL1 cause a severe congenital myopathy by Ravenscroft, Gianina, Zaharieva, Irina T, Bortolotti, Carlo A, Lambrughi, Matteo, Pignataro, Marcello, Borsari, Marco, Sewry, Caroline A, Phadke, Rahul, Haliloglu, Goknur, Ong, Royston, Goullée, Hayley, Whyte, Tamieka, Consortium, UK10K, Manzur, Adnan, Talim, Beril, Kaya, Ulkuhan, Osborn, Daniel P S, Forrest, Alistair R R, Laing, Nigel G, Muntoni, Francesco
Published 2018Text -
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Mutations in the lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome by Rooryck, Caroline, Diaz-Font, Anna, Osborn, Daniel P.S., Chabchoub, Elyes, Hernandez-Hernandez, Victor, Shamseldin, Hanan, Kenny, Joanna, Waters, Aoife, Jenkins, Dagan, Kaissi, Ali Al, Leal, Gabriela F., Dallapiccola, Bruno, Carnevale, Franco, Bitner-Glindzicz, Maria, Lees, Melissa, Hennekam, Raoul, Stanier, Philip, Burns, Alan J., Peeters, Hilde, Alkuraya, Fowzan S, Beales, Philip L.
Published 2011Text -
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Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24 by Hedberg-Oldfors, Carola, Abramsson, Alexandra, Osborn, Daniel P S, Danielsson, Olof, Fazlinezhad, Afsoon, Nilipour, Yalda, Hübbert, Laila, Nennesmo, Inger, Visuttijai, Kittichate, Bharj, Jaipreet, Petropoulou, Evmorfia, Shoreim, Azza, Vona, Barbara, Ahangari, Najmeh, López, Marcela Dávila, Doosti, Mohammad, Banote, Rakesh Kumar, Maroofian, Reza, Edling, Malin, Taherpour, Mehdi, Zetterberg, Henrik, Karimiani, Ehsan Ghayoor, Oldfors, Anders, Jamshidi, Yalda
Published 2019Text -
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Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy by Osborn, Daniel P.S., Pond, Heather L., Mazaheri, Neda, Dejardin, Jeremy, Munn, Christopher J., Mushref, Khaloob, Cauley, Edmund S., Moroni, Isabella, Pasanisi, Maria Barbara, Sellars, Elizabeth A., Hill, R. Sean, Partlow, Jennifer N., Willaert, Rebecca K., Bharj, Jaipreet, Malamiri, Reza Azizi, Galehdari, Hamid, Shariati, Gholamreza, Maroofian, Reza, Mora, Marina, Swan, Laura E., Voit, Thomas, Conti, Francesco J., Jamshidi, Yalda, Manzini, M. Chiara
Published 2017Text -
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Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia by Wagner, Matias, Osborn, Daniel P. S., Gehweiler, Ina, Nagel, Maike, Ulmer, Ulrike, Bakhtiari, Somayeh, Amouri, Rim, Boostani, Reza, Hentati, Faycal, Hockley, Maryam M., Hölbling, Benedikt, Schwarzmayr, Thomas, Karimiani, Ehsan Ghayoor, Kernstock, Christoph, Maroofian, Reza, Müller-Felber, Wolfgang, Ozkan, Ege, Padilla-Lopez, Sergio, Reich, Selina, Reichbauer, Jennifer, Darvish, Hossein, Shahmohammadibeni, Neda, Tafakhori, Abbas, Vill, Katharina, Zuchner, Stephan, Kruer, Michael C., Winkelmann, Juliane, Jamshidi, Yalda, Schüle, Rebecca
Published 2019Text