Performance Characteristics of the Digital Autofluoroscope von Grenier, Raymond P., Di Rocco, James V.

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Panoramic radiation detector having a multiplicity of isolated gas chambers von SPERGEL PHILIP, ROCCO JAMES V. DI, GRENIER RAYMOND P

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Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability von Grozeva, Detelina, Carss, Keren, Spasic-Boskovic, Olivera, Tejada, Maria-Isabel, Gecz, Jozef, Shaw, Marie, Corbett, Mark, Haan, Eric, Thompson, Elizabeth, Friend, Kathryn, Hussain, Zaamin, Hackett, Anna, Field, Michael, Renieri, Alessandra, Stevenson, Roger, Schwartz, Charles, Floyd, James A.B., Bentham, Jamie, Cosgrove, Catherine, Keavney, Bernard, Bhattacharya, Shoumo, Hurles, Matthew, Raymond, F. Lucy

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A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function von Lam, Michael T, Coppola, Simona, Krumbach, Oliver H F, Prencipe, Giusi, Insalaco, Antonella, Cifaldi, Cristina, Brigida, Immacolata, Zara, Erika, Scala, Serena, Di Cesare, Silvia, Martinelli, Simone, Di Rocco, Martina, Pascarella, Antonia, Niceta, Marcello, Pantaleoni, Francesca, Ciolfi, Andrea, Netter, Petra, Carisey, Alexandre F, Diehl, Michael, Akbarzadeh, Mohammad, Conti, Francesca, Merli, Pietro, Pastore, Anna, Levi Mortera, Stefano, Camerini, Serena, Farina, Luciapia, Buchholzer, Marcel, Pannone, Luca, Cao, Tram N, Coban-Akdemir, Zeynep H, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Basso-Ricci, Luca, Chiriaco, Maria, Dvorsky, Radovan, Putignani, Lorenza, Carsetti, Rita, Janning, Petra, Stray-Pedersen, Asbjorg, Erichsen, Hans Christian, Horne, AnnaCarin, Bryceson, Yenan T, Torralba-Raga, Lamberto, Ramme, Kim, Rosti, Vittorio, Bracaglia, Claudia, Messia, Virginia, Palma, Paolo, Finocchi, Andrea, Locatelli, Franco, Chinn, Ivan K, Lupski, James R, Mace, Emily M, Cancrini, Caterina, Aiuti, Alessandro, Ahmadian, Mohammad R, Orange, Jordan S, De Benedetti, Fabrizio, Tartaglia, Marco

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Mutations in VPS33B , encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome von Stapelbroek, Janneke M, Morgan, Neil V, Johnson, Colin A, Lo, Bryan, Karet, Fiona E, McKiernan, Patrick J, Knisely, A S, Forshew, Tim, Morris, Andrew A M, Trembath, Richard C, Houwen, Roderick H J, Wraith, James E, Quarrell, Oliver W, Cooper, Wendy N, Maher, Eamonn R, Klomp, Leo W J, Thompson, Richard J, Wali, S, Gissen, Paul, Kelly, Deirdre A, McClean, Patricia, Di Rocco, Maja, Mandel, Hanna, Lynch, Sally A

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