Výsledky vyhledávání - Blouin, Jean‐Louis

Pure interstitial dup(6)(q22.31q22.31) – a case report Autor Sheth, Frenny, Trivedi, Sunil, Andrieux, Joris, Blouin, Jean-Louis, Sheth, Jayesh

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Genetic variability of the μ-opioid receptor influences intrathecal fentanyl analgesia requirements in laboring women Autor Landau, Ruth, Kern, Christian, Columb, Malachy O., Smiley, Richard M., Blouin, Jean-Louis

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Precision medicine in diabetes: A non‐invasive prenatal diagnostic test for the determination of fetal glucokinase mutations Autor Nouspikel, Thierry, Blouin, Jean‐Louis, Puder, Jardena J, Köhler Ballan, Bettina, Schwitzgebel, Valerie M

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The Effect of Maternal and Fetal β2-Adrenoceptor and Nitric Oxide Synthase Genotype on Vasopressor Requirement and Fetal Acid-Base Status During Spinal Anesthesia For Cesarean Deli... Autor Landau, Ruth, Liu, Shih-Kai, Blouin, Jean-Louis, Smiley, Richard M., Ngan Kee, Warwick D.

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Next generation diagnostics on cardiomyopathy Autor Blouin, Jean-Louis, Bevillard, Jeremy, Makrythanasis, Periklis, Guipponi, Michel, Santoni, Federico, Antonarakis, Stylianos E, Fokstuen, Siv

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Beta-2 adrenoceptor genotype and progress in term and late preterm active labor Autor MILLER, Russell S., SMILEY, Richard M., DANIEL, Danette, WENG, Chunhua, EMALA, Charles W., BLOUIN, Jean-Louis, FLOOD, Pamela D.

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Unusually stable abnormal karyotype in a highly aggressive melanoma negative for telomerase activity Autor Gagos, Sarantis, Papaioannou, George, Chiourea, Maria, Merk-Loretti, Sophie, Jefford, Charles-Edward, Mikou, Panagiota, Irminger-Finger, Irmgard, Liossi, Anna, Blouin, Jean-Louis, Dahoun, Sophie

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Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients Autor Laurent, Sacha, Gehrig, Corinne, Nouspikel, Thierry, Amr, Sami S, Oza, Andrea, Murphy, Elissa, Vannier, Anne, Béna, Frédérique Sloan, Carminho-Rodrigues, Maria Teresa, Blouin, Jean-Louis, Van, Hélène Cao, Abramowicz, Marc, Paoloni-Giacobino, Ariane, Guipponi, Michel

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Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia Autor Bartoloni, Lucia, Blouin, Jean-Louis, Pan, Yanzhen, Gehrig, Corinne, Maiti, Amit K., Scamuffa, Nathalie, Rossier, Colette, Jorissen, Mark, Armengot, Miguel, Meeks, Maggie, Mitchison, Hannah M., Chung, Eddie M. K., Delozier-Blanchet, Celia D., Craigen, William J., Antonarakis, Stylianos E.

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Bi‐allelic loss of ERGIC1 causes relatively mild arthrogryposis Autor Marconi, Caterina, Lemmens, Laure, Masclaux, Frédéric, Mattioli, Francesca, Fluss, Joël, Extermann, Philippe, Mendez, Purificacion, Leuchter, Russia Ha‐Vinh, Stathaki, Elissavet, Laurent, Sacha, Hammar, Eva, Vannier, Anne, Varvagiannis, Konstantinos, Guipponi, Michel, Sloan‐Bena, Frédérique, Blouin, Jean‐Louis, Abramowicz, Marc, Fokstuen, Siv

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DNAH5 Mutations Are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects Autor Hornef, Nada, Olbrich, Heike, Horvath, Judit, Zariwala, Maimoona A., Fliegauf, Manfred, Loges, Niki Tomas, Wildhaber, Johannes, Noone, Peadar G., Kennedy, Marcus, Antonarakis, Stylianos E., Blouin, Jean-Louis, Bartoloni, Lucia, Nüsslein, Thomas, Ahrens, Peter, Griese, Matthias, Kuhl, Heiner, Sudbrak, Ralf, Knowles, Michael R., Reinhardt, Richard, Omran, Heymut

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Multicenter Linkage Study of Schizophrenia Candidate Regions on Chromosomes 5q, 6q, 10p, and 13q: Schizophrenia Linkage Collaborative Group III Autor Levinson, Douglas F., Holmans, Peter, Straub, Richard E., Owen, Michael J., Wildenauer, Dieter B., Gejman, Pablo V., Pulver, Ann E., Laurent, Claudine, Kendler, Kenneth S., Walsh, Dermot, Norton, N., Williams, Nigel M., Schwab, Sibylle G., Lerer, Bernard, Mowry, Bryan J., Sanders, Alan R., Antonarakis, Stylianos E., Blouin, Jean-Louis, DeLeuze, Jean-Francois, Mallet, and Jacques

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Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia Autor Moore, Daniel J., Onoufriadis, Alexandros, Shoemark, Amelia, Simpson, Michael A., zur Lage, Petra I., de Castro, Sandra C., Bartoloni, Lucia, Gallone, Giuseppe, Petridi, Stavroula, Woollard, Wesley J., Antony, Dinu, Schmidts, Miriam, Didonna, Teresa, Makrythanasis, Periklis, Bevillard, Jeremy, Mongan, Nigel P., Djakow, Jana, Pals, Gerard, Lucas, Jane S., Marthin, June K., Nielsen, Kim G., Santoni, Federico, Guipponi, Michel, Hogg, Claire, Antonarakis, Stylianos E., Emes, Richard D., Chung, Eddie M.K., Greene, Nicholas D.E., Blouin, Jean-Louis, Jarman, Andrew P., Mitchison, Hannah M.

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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 Autor Olcese, Chiara, Patel, Mitali P., Shoemark, Amelia, Kiviluoto, Santeri, Legendre, Marie, Williams, Hywel J., Vaughan, Cara K., Hayward, Jane, Goldenberg, Alice, Emes, Richard D., Munye, Mustafa M., Dyer, Laura, Cahill, Thomas, Bevillard, Jeremy, Gehrig, Corinne, Guipponi, Michel, Chantot, Sandra, Duquesnoy, Philippe, Thomas, Lucie, Jeanson, Ludovic, Copin, Bruno, Tamalet, Aline, Thauvin-Robinet, Christel, Papon, Jean- François, Garin, Antoine, Pin, Isabelle, Vera, Gabriella, Aurora, Paul, Fassad, Mahmoud R., Jenkins, Lucy, Boustred, Christopher, Cullup, Thomas, Dixon, Mellisa, Onoufriadis, Alexandros, Bush, Andrew, Chung, Eddie M. K., Antonarakis, Stylianos E., Loebinger, Michael R., Wilson, Robert, Armengot, Miguel, Escudier, Estelle, Hogg, Claire, Amselem, Serge, Sun, Zhaoxia, Bartoloni, Lucia, Blouin, Jean-Louis, Mitchison, Hannah M.

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Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part II: Schizophrenia Autor Lewis, Cathryn M., Levinson, Douglas F., Wise, Lesley H., DeLisi, Lynn E., Straub, Richard E., Hovatta, Iiris, Williams, Nigel M., Schwab, Sibylle G., Pulver, Ann E., Faraone, Stephen V., Brzustowicz, Linda M., Kaufmann, Charles A., Garver, David L., Gurling, Hugh M. D., Lindholm, Eva, Coon, Hilary, Moises, Hans W., Byerley, William, Shaw, Sarah H., Mesen, Andrea, Sherrington, Robin, O’Neill, F. Anthony, Walsh, Dermot, Kendler, Kenneth S., Ekelund, Jesper, Paunio, Tiina, Lönnqvist, Jouko, Peltonen, Leena, O’Donovan, Michael C., Owen, Michael J., Wildenauer, Dieter B., Maier, Wolfgang, Nestadt, Gerald, Blouin, Jean-Louis, Antonarakis, Stylianos E., Mowry, Bryan J., Silverman, Jeremy M., Crowe, Raymond R., Cloninger, C. Robert, Tsuang, Ming T., Malaspina, Dolores, Harkavy-Friedman, Jill M., Svrakic, Dragan M., Bassett, Anne S., Holcomb, Jennifer, Kalsi, Gursharan, McQuillin, Andrew, Brynjolfson, Jon, Sigmundsson, Thordur, Petursson, Hannes, Jazin, Elena, Zoëga, Tomas, Helgason, Tomas

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Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part III: Bipolar Disorder Autor Segurado, Ricardo, Detera-Wadleigh, Sevilla D., Levinson, Douglas F., Lewis, Cathryn M., Gill, Michael, Nurnberger, Jr., John I., Craddock, Nick, DePaulo, J. Raymond, Baron, Miron, Gershon, Elliot S., Ekholm, Jenny, Cichon, Sven, Turecki, Gustavo, Claes, Stephan, Kelsoe, John R., Schofield, Peter R., Badenhop, Renee F., Morissette, J., Coon, Hilary, Blackwood, Douglas, McInnes, L. Alison, Foroud, Tatiana, Edenberg, Howard J., Reich, Theodore, Rice, John P., Goate, Alison, McInnis, Melvin G., McMahon, Francis J., Badner, Judith A., Goldin, Lynn R., Bennett, Phil, Willour, Virginia L., Zandi, Peter P., Liu, Jianjun, Gilliam, Conrad, Juo, Suh-Hang, Berrettini, Wade H., Yoshikawa, Takeo, Peltonen, Leena, Lönnqvist, Jouko, Nöthen, Markus M., Schumacher, Johannes, Windemuth, Christine, Rietschel, Marcella, Propping, Peter, Maier, Wolfgang, Alda, Martin, Grof, Paul, Rouleau, Guy A., Del-Favero, Jurgen, Van Broeckhoven, Christine, Mendlewicz, Julien, Adolfsson, Rolf, Spence, M. Anne, Luebbert, Hermann, Adams, Linda J., Donald, Jennifer A., Mitchell, Philip B., Barden, Nicholas, Shink, Eric, Byerley, William, Muir, Walter, Visscher, Peter M., Macgregor, Stuart, Gurling, Hugh, Kalsi, Gursharan, McQuillin, Andrew, Escamilla, Michael A., Reus, Victor I., Leon, Pedro, Freimer, Nelson B., Ewald, Henrik, Kruse, Torben A., Mors, Ole, Radhakrishna, Uppala, Blouin, Jean-Louis, Antonarakis, Stylianos E., Akarsu, Nurten

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