Search Results - Reardon, William 

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

Get full text

Essential Medical Genetics by Reardon, William

Get full text

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

Get full text

A Dictionary of Genetics by Reardon, William

Get full text

Dysmorphology demystified by Reardon, William, Donnai, Dian

Get full text Get full text Get full text

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

Get full text Get full text Get full text

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

Get full text Get full text

Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis by 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.

Get full text Get full text

Extracranial and Intracranial Vasculopathy With “Moyamoya Phenomenon” in Association With Alagille Syndrome by 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.

Get full text Get full text Get full text

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis by 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

Get full text Get full text Get full text

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 by 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 

Get full text Get full text

Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome) by 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

Get full text Get full text

Classic and Atypical FOP Phenotypes are Caused by Mutations in the BMP Type I Receptor ACVR1 by 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.

Get full text Get full text Get full text

Mutations in PIK3R1 Cause SHORT Syndrome by 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

Get full text Get full text Get full text

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions by 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

Get full text Get full text Get full text

Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations by 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

Get full text Get full text Get full text

Pathogenic Variants in GPC4 Cause Keipert Syndrome by 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.

Get full text Get full text Get full text

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum by 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

Get full text Get full text Get full text

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes by 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.

Get full text Get full text Get full text