Resultats de la cerca - Reardon, William 

Medical genetics: advances in brief: Maternal inheritance of atopic IgE responsiveness on chromosome 11q per Reardon, William

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Essential Medical Genetics per Reardon, William

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IVF and Justice: Moral, Social and Legal Issues Related to In Vitro Fertilisation per Reardon, William

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A Dictionary of Genetics per Reardon, William

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Dysmorphology demystified per Reardon, William, Donnai, Dian

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Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Ab... per Vrečar, Irena, Innes, Josie, Jones, Elizabeth A., Kingston, Helen, Reardon, William, Kerr, Bronwyn, Clayton-Smith, Jill, Douzgou, Sofia

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Filamin A Is Mutated in X-Linked Chronic Idiopathic Intestinal Pseudo-Obstruction with Central Nervous System Involvement per Gargiulo, Annagiusi, Auricchio, Renata, Barone, Maria Vittoria, Cotugno, Gabriella, Reardon, William, Milla, Peter J., Ballabio, Andrea, Ciccodicola, Alfredo, Auricchio, Alberto

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Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis per Huang, Ningwu, Pandey, Amit V., Agrawal, Vishal, Reardon, William, Lapunzina, Pablo D., Mowat, David, Jabs, Ethylin Wang, Vliet, Guy Van, Sack, Joseph, Flück, Christa E., Miller, Walter L.

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Extracranial and Intracranial Vasculopathy With “Moyamoya Phenomenon” in Association With Alagille Syndrome per Delaney, Siobhan, O'Connor, Ged, Reardon, William, Murphy, Stephen J. X., Tierney, Sean, Ryan, Barbara M., Delaney, Holly, Doherty, Colin P., Guiney, Michael, Brennan, Paul, Tobin, W. Oliver, McCabe, Dominick J. H.

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Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis per Feenstra, Ilse, Hanemaaijer, Nicolien, Sikkema-Raddatz, Birgit, Yntema, Helger, Dijkhuizen, Trijnie, Lugtenberg, Dorien, Verheij, Joke, Green, Andrew, Hordijk, Roel, Reardon, William, Vries, Bert de, Brunner, Han, Bongers, Ernie, Leeuw, Nicole de, van Ravenswaaij-Arts, Conny

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Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 per Bondurand, Nadege , Dastot-Le Moal, Florence , Stanchina, Laure , Collot, Nathalie , Baral, Viviane , Marlin, Sandrine , Attie-Bitach, Tania , Giurgea, Irina , Skopinski, Laurent , Reardon, William , Toutain, Annick , Sarda, Pierre , Echaieb, Anis , Lackmy-Port-Lis, Marilyn , Touraine, Renaud , Amiel, Jeanne , Goossens, Michel , Pingault, Veronique 

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Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome) per Zweier, Christiane, Peippo, Maarit M., Hoyer, Juliane, Sousa, Sérgio, Bottani, Armand, Clayton-Smith, Jill, Reardon, William, Saraiva, Jorge, Cabral, Alexandra, Göhring, Ina, Devriendt, Koen, de Ravel, Thomy, Bijlsma, Emilia K., Hennekam, Raoul C. M., Orrico, Alfredo, Cohen, Monika, Dreweke, Alexander, Reis, André, Nürnberg, Peter, Rauch, Anita

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Classic and Atypical FOP Phenotypes are Caused by Mutations in the BMP Type I Receptor ACVR1 per Kaplan, Frederick S., Xu, Meiqi, Seemann, Petra, Connor, Michael, Glaser, David L., Carroll, Liam, Delai, Patricia, Fastnacht-Urban, Elisabeth, Forman, Stephen J., Gillessen-Kaesbach, Gabriele, Hoover-Fong, Julie, Köster, Bernhard, Pauli, Richard M., Reardon, William, Zaidi, Syed-Adeel, Zasloff, Michael, Morhart, Rolf, Mundlos, Stefan, Groppe, Jay, Shore, Eileen M.

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Mutations in PIK3R1 Cause SHORT Syndrome per Dyment, David A., Smith, Amanda C., Alcantara, Diana, Schwartzentruber, Jeremy A., Basel-Vanagaite, Lina, Curry, Cynthia J., Temple, I. Karen, Reardon, William, Mansour, Sahar, Haq, Mushfequr R., Gilbert, Rodney, Lehmann, Ordan J., Vanstone, Megan R., Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Boycott, Kym M., Innes, A. Micheil

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CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions per Butcher, Darci T., Cytrynbaum, Cheryl, Turinsky, Andrei L., Siu, Michelle T., Inbar-Feigenberg, Michal, Mendoza-Londono, Roberto, Chitayat, David, Walker, Susan, Machado, Jerry, Caluseriu, Oana, Dupuis, Lucie, Grafodatskaya, Daria, Reardon, William, Gilbert-Dussardier, Brigitte, Verloes, Alain, Bilan, Frederic, Milunsky, Jeff M., Basran, Raveen, Papsin, Blake, Stockley, Tracy L., Scherer, Stephen W., Choufani, Sanaa, Brudno, Michael, Weksberg, Rosanna

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Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations per Rudnik-Schöneborn, Sabine, Senderek, Jan, Jen, Joanna C., Houge, Gunnar, Seeman, Pavel, Puchmajerová, Alena, Graul-Neumann, Luitgard, Seidel, Ulrich, Korinthenberg, Rudolf, Kirschner, Janbernd, Seeger, Jürgen, Ryan, Monique M., Muntoni, Francesco, Steinlin, Maja, Sztriha, Laszlo, Colomer, Jaume, Hübner, Christoph, Brockmann, Knut, Van Maldergem, Lionel, Schiff, Manuel, Holzinger, Andreas, Barth, Peter, Reardon, William, Yourshaw, Michael, Nelson, Stanley F., Eggermann, Thomas, Zerres, Klaus

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Pathogenic Variants in GPC4 Cause Keipert Syndrome per Amor, David J., Stephenson, Sarah E.M., Mustapha, Mirna, Mensah, Martin A., Ockeloen, Charlotte W., Lee, Wei Shern, Tankard, Rick M., Phelan, Dean G., Shinawi, Marwan, de Brouwer, Arjan P.M., Pfundt, Rolph, Dowling, Cari, Toler, Tomi L., Sutton, V. Reid, Agolini, Emanuele, Rinelli, Martina, Capolino, Rossella, Martinelli, Diego, Zampino, Giuseppe, Dumić, Miroslav, Reardon, William, Shaw-Smith, Charles, Leventer, Richard J., Delatycki, Martin B., Kleefstra, Tjitske, Mundlos, Stefan, Mortier, Geert, Bahlo, Melanie, Allen, Nicola J., Lockhart, Paul J.

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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum per Banka, Siddharth, Veeramachaneni, Ratna, Reardon, William, Howard, Emma, Bunstone, Sancha, Ragge, Nicola, Parker, Michael J, Crow, Yanick J, Kerr, Bronwyn, Kingston, Helen, Metcalfe, Kay, Chandler, Kate, Magee, Alex, Stewart, Fiona, McConnell, Vivienne P M, Donnelly, Deirdre E, Berland, Siren, Houge, Gunnar, Morton, Jenny E, Oley, Christine, Revencu, Nicole, Park, Soo-Mi, Davies, Sally J, Fry, Andrew E, Lynch, Sally Ann, Gill, Harinder, Schweiger, Susann, Lam, Wayne W K, Tolmie, John, Mohammed, Shehla N, Hobson, Emma, Smith, Audrey, Blyth, Moira, Bennett, Christopher, Vasudevan, Pradeep C, García-Miñaúr, Sixto, Henderson, Alex, Goodship, Judith, Wright, Michael J, Fisher, Richard, Gibbons, Richard, Price, Susan M, C de Silva, Deepthi, Temple, I Karen, Collins, Amanda L, Lachlan, Katherine, Elmslie, Frances, McEntagart, Meriel, Castle, Bruce, Clayton-Smith, Jill, Black, Graeme C, Donnai, Dian

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Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes per Mefford, Heather C., Sharp, Andrew J., Baker, Carl, Itsara, Andy, Jiang, Zhaoshi, Buysse, Karen, Huang, Shuwen, Maloney, Viv K., Crolla, John A., Baralle, Diana, Collins, Amanda, Mercer, Catherine, Norga, Koen, de Ravel, Thomy, Devriendt, Koen, Bongers, Ernie M.H.F., de Leeuw, Nicole, Reardon, William, Gimelli, Stefania, Bena, Frederique, Hennekam, Raoul C., Male, Alison, Gaunt, Lorraine, Clayton-Smith, Jill, Simonic, Ingrid, Park, Soo Mi, Mehta, Sarju G., Nik-Zainal, Serena, Woods, C. Geoffrey, Firth, Helen V., Parkin, Georgina, Fichera, Marco, Reitano, Santina, Giudice, Mariangela Lo, Li, Kelly E., Casuga, Iris, Broomer, Adam, Conrad, Bernard, Schwerzmann, Markus, Räber, Lorenz, Gallati, Sabina, Striano, Pasquale, Coppola, Antonietta, Tolmie, John L., Tobias, Edward S., Lilley, Chris, Armengol, Lluis, Spysschaert, Yves, Verloo, Patrick, De Coene, Anja, Goossens, Linde, Mortier, Geert, Speleman, Frank, van Binsbergen, Ellen, Nelen, Marcel R., Hochstenbach, Ron, Poot, Martin, Gallagher, Louise, Gill, Michael, McClellan, Jon, King, Mary-Claire, Regan, Regina, Skinner, Cindy, Stevenson, Roger E., Antonarakis, Stylianos E., Chen, Caifu, Estivill, Xavier, Menten, Björn, Gimelli, Giorgio, Gribble, Susan, Schwartz, Stuart, Sutcliffe, James S., Walsh, Tom, Knight, Samantha J.L., Sebat, Jonathan, Romano, Corrado, Schwartz, Charles E., Veltman, Joris A., de Vries, Bert B.A., Vermeesch, Joris R., Barber, John C.K., Willatt, Lionel, Tassabehji, May, Eichler, Evan E.

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