Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development von Benko, Sabina, Gordon, Christopher T, Mallet, Delphine, Sreenivasan, Rajini, Thauvin-Robinet, Christel, Brendehaug, Atle, Thomas, Sophie, Bruland, Ove, David, Michel, Nicolino, Marc, Labalme, Audrey, Sanlaville, Damien, Callier, Patrick, Malan, Valerie, Huet, Frédéric, Molven, Anders, Dijoud, Frédérique, Munnich, Arnold, Faivre, Laurence, Amiel, Jeanne, Harley, Vincent, Houge, Gunnar, Morel, Yves, Lyonnet, Stanislas

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Randomized, controlled trial of miglustat in Gaucher's disease type 3 von Schiffmann, Raphael, FitzGibbon, Edmond J., Harris, Chris, DeVile, Catherine, Davies, Elin H., Abel, Larry, Van Schaik, Ivo N., Benko, William S., Timmons, Margaret, Ries, Markus, Vellodi, Ashok

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The hyperfluidization of mammalian cell membranes acts as a signal to initiate the heat shock protein response von Balogh, Gábor, Horváth, Ibolya, Nagy, Enikõ, Hoyk, Zsófia, Benkõ, Sándor, Bensaude, Olivier, Vígh, László

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Long-range regulation at the SOX9 locus in development and disease von Gordon, C T, Tan, T Y, Benko, S, FitzPatrick, D, Lyonnet, S, Farlie, P G

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CSF and Blood Levels of GFAP in Alexander Disease von Jany, Paige L, Agosta, Guillermo E, Benko, William S, Eickhoff, Jens C, Keller, Stephanie R, Köehler, Wolfgang, Koeller, David, Mar, Soe, Naidu, Sakkubai, Marie Ness, Jayne, Pareyson, Davide, Renaud, Deborah L, Salsano, Ettore, Schiffmann, Raphael, Simon, Julie, Vanderver, Adeline, Eichler, Florian, van der Knaap, Marjo S, Messing, Albee

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Continuous infusion versus intermittent administration of ceftazidime in critically ill patients with suspected gram-negative infections von BENKO, A. S, CAPPELLETTY, D. M, KRUSE, J. A, RYBAK, M. J

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UNIPARENTAL DISOMY OF CHROMOSOME 1 CAUSING CONCURRENT CHARCOT-MARIE-TOOTH AND GAUCHER DISEASE TYPE 3 von BENKO, W. S, HRUSKA, K. S, NAGAN, N, GOKER-ALPAN, O, HART, P. S, SCHIFFMANN, R, SIDRANSKY, E

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Membrane Physical State Controls the Signaling Mechanism of the Heat Shock Response in Synechocystis PCC 6803: Identification of hsp17 as a ``Fluidity Gene von Horvath, Ibolya, Glatz, Attila, Varvasovszki, Viktoria, Torok, Zsolt, Pali, Tibor, Balogh, Gabor, Kovacs, Eszter, Nadasdi, Levente, Benko, Sandor, Joo, Ferenc, Vigh, Laszlo

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The NLRP3 inflammasome - interleukin 1 pathway as a therapeutic target in gout von Szekanecz, Zoltán, Szamosi, Szilvia, Kovács, Gergő E., Kocsis, Elek, Benkő, Szilvia

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Hospital Utilization Among Rural Children Served by Pediatric Neurology Telemedicine Clinics von Dayal, Parul, Chang, Celia H, Benko, William S, Pollock, Brad H, Crossen, Stephanie S, Kissee, Jamie, Ulmer, Aaron M, Hoch, Jeffrey S, Warner, Leslie, Marcin, James P

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Appointment completion in pediatric neurology telemedicine clinics serving underserved patients von Dayal, Parul, Chang, Celia H, Benko, William S, Ulmer, Aaron M, Crossen, Stephanie S, Pollock, Brad H, Hoch, Jeffrey S, Kissee, Jamie L, Warner, Leslie, Marcin, James P

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34 Our Growing Challenge: Urban Emergency Department Workplace Violence Based on Gender, Healthcare Role, and Barriers to Reporting von Bradley, M., Rabin, S., Redpath, S., Cozzi, N., Benko, S., Akinfemiwa, O., Mati, W., Clayton, C., Ward, E., Gottleib, M., Purim-ShemTov, Y.

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Cardiorespiratory Effects of Naloxone in Children von Hasan, Rashed A, Benko, Amy S, Nolan, Brian M, Campe, Julie, Duff, Jenny, Zureikat, George Y

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Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence von Vazquez, Marie-Paule, Fantes, Judy A, Vekemans, Michel, Holder-Espinasse, Muriel, Gordon, Christopher T, Kilpatrick, Nicky, Perry, Paul, Heaney, Simon, Thomas, Sophie, Ayuso, Carmen, Ramsay, Jacqueline, Lees, Melissa M, Crollius, Hugues Roest, Farlie, Peter G, Abadie, Véronique, Temple, I Karen, Lyonnet, Stanislas, Amiel, Jeanne, Fisher, Malcolm, Thomas, Paul, Kleinjan, Dirk-Jan, Etchevers, Heather C, Benko, Sabina, Jamshidi, Negar, Munnich, Arnold, Pelet, Anna, Essafi, Abdelkader, McBride, David, FitzPatrick, David R, Golzio, Christelle, Picard, Arnaud, Hastie, Nicholas D

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Genetics of congenitally corrected transposition of the great arteries: Whole-exome sequencing shows a mutation load effect in 156 genes involved in cardiac patterning von Benadjaoud, Y., Benko, S., Jabot Hanin, F., Bonnet, D., Lyonnet, S.

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Genetics of congenitally corrected transposition of the great arteries: Whole-exome sequencing shows a mutation load effect in 156 genes involved in cardiac patterning von Benadjaoud, Y., Benko, S., Jabot Hanin, F., Bonnet, D., Lyonnet, S.

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Transient receptor potential vanilloid-1 signaling inhibits differentiation and activation of human dendritic cells von Toth, B I, Benko, S, Szollosi, A G, Kovacs, L, Rajnavolgyi, E, Biro, T

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Free sialic acid storage disease without sialuria von Mochel, Fanny, Yang, Bingzhi, Barritault, Julie, Thompson, Jerry N., Engelke, Udo F. H., McNeill, Nathan H., Benko, William S., Kaneski, Christine R., Adams, David R., Tsokos, Maria, Abu-Asab, Mones, Huizing, Marjan, Seguin, Francois, Wevers, Ron A., Ding, Jiahuan, Verheijen, Frans W., Schiffmann, Raphael

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Sigmoid Th17 populations, the HIV latent reservoir, and microbial translocation in men on long-term antiretroviral therapy von CHEGE, Duncan, SHETH, Prameet M, KAUL, Rupert, KAIN, Taylor, KIM, Connie J, KOVACS, Colin, LOUTFY, Mona, HALPENNY, Roberta, KANDEL, Gabor, CHUN, Tae-Wook, OSTROWSKI, Mario

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A polymer-coated, paclitaxel-eluting stent (Eluvia) versus a polymer-free, paclitaxel-coated stent (Zilver PTX) for endovascular femoropopliteal intervention (IMPERIAL): a randomis... von Gray, William A, Keirse, Koen, Soga, Yoshimitsu, Benko, Andrew, Babaev, Anvar, Yokoi, Yoshiaki, Schroeder, Henrik, Prem, Jeffery T, Holden, Andrew, Popma, Jeffrey, Jaff, Michael R, Diaz-Cartelle, Juan, Müller-Hülsbeck, Stefan, Albrecht, Thomas, Ando, Kenji, Babaev, Anvar, Bacharach, Michael J, Bachinsky, William, Bajakian, Danielle, Beasley, Robert, Benenati, James, Benko, Andrew, Burket, Mark, Cardenas, Joseph, Das, Tony, De Martino, Randall, Deutschmann, Hannes, Dulas, Daniel, Feldman, Robert, Fugate, Mark, Garcia, Lawrence, Golzar, Jaafer, Gutta, Rao, Hall, Patrick, Hawkins, Stewart, Henao, Steve, Herdrich, Benjamin, Hirano, Keisuke, Holden, Andrew, Jaalouk, Safwan, Janzer, Sean, Kawasaki, Daizo, Keirse, Koen, Khatib, Yazan, Kichikawa, Kimihiko, Korngold, Ethan, Loewe, Christian, Lopez, Louis, Lui, Henry, Mano, Toshiaki, Mendes, Robert, Miyamoto, Akira, Müller-Hülsbeck, Stefan, Nakamura, Masato, O'Connor, David, Ohki, Takao, Park, James, Powell, Richard, Pratsos, Antonis, Prem, Jeffery, Rao, Vikram, Rashid, John, Rhee, Robert, Ricci, Jason, Scheinert, Dierk, Schroë, Herman, Schroeder, Henrik, Simon, Peter O, Singh, Gagan, Tan, Kongteng, Tolerico, Paul, Vasudevan, Thodur, Vermassen, Frank, Werner, Martin, Wiechmann, Bret, Yokoi, Hiroyoshi, Yokoi, Yoshiaki, Zeller, Thomas

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