檢索結果 - Blouin, Jean‐Louis

Pure interstitial dup(6)(q22.31q22.31) – a case report 由 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 由 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 由 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... 由 Landau, Ruth, Liu, Shih-Kai, Blouin, Jean-Louis, Smiley, Richard M., Ngan Kee, Warwick D.

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Next generation diagnostics on cardiomyopathy 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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