Search Results - Reardon, Willie

Medical genetics: advances in brief: Detection of full fragile X mutation by Reardon, Willie

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Medical genetics: advances in brief: Fibrinogen genotype and risk of peripheral atherosclerosis by Reardon, Willie

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Medical genetics: advances in brief: Genetic determinants of airways' colonisation with Pseudomonas aeruginosa in cystic fibrosis by Reardon, Willie

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Medical genetics: advances in brief: Twin studies in medical research: can they tell us whether diseases are genetically determined? by Reardon, Willie

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Hereditary Hearing Loss and its Syndromes by Reardon, Willie

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Astroglial-mediated remodeling of the interhemispheric midline is required for the formation of the corpus callosum by Gobius, Ilan, Morcom, Laura, Suárez, Rodrigo, Bunt, Jens, Bukshpun, Polina, Reardon, Willie, Dobyns, William B., Rubenstein, John L.R., Barkovich, A. James, Sherr, Elliott H., Richards, Linda J.

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Novel clinical and genetic insight into CXorf56-associated intellectual disability by Rocha, Maria Eugenia, Silveira, Tainá Regina Damaceno, Sasaki, Erina, Sás, Daíse Moreno, Lourenço, Charles Marques, Kandaswamy, Krishna K., Beetz, Christian, Rolfs, Arndt, Bauer, Peter, Reardon, Willie, Bertoli-Avella, Aida M.

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Pierpont Syndrome: A Collaborative Study by Wright, Emma MM Burkitt, Suri, Mohnish, White, Susan M, de Leeuw, Nicole, Silfhout, Anneke T Vulto-van, Stewart, Fiona, McKee, Shane, Mansour, Sahar, Connell, Fiona C, Chopra, Maya, Kirk, Edwin P, Devriendt, Koen, Reardon, Willie, Brunner, Han, Donnai, Dian

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FBN1 Contributing to Familial Congenital Diaphragmatic Hernia by Beck, Tyler F., Campeau, Philippe M., Jhangiani, Shalini N., Gambin, Tomasz, Li, Alexander H., Abo-Zahrah, Reem, Jordan, Valerie K., Hernandez-Garcia, Andres, Wiszniewski, Wojciech K., Muzny, Donna, Gibbs, Richard A., Boerwinkle, Eric, Lupski, James R., Lee, Brendan, Reardon, Willie, Scott, Daryl A.

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De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome by Simpson, Michael A., Deshpande, Charu, Dafou, Dimitra, Vissers, Lisenka E.L.M., Woollard, Wesley J., Holder, Susan E., Gillessen-Kaesbach, Gabriele, Derks, Ronny, White, Susan M., Cohen-Snuijf, Ruthy, Kant, Sarina G., Hoefsloot, Lies H., Reardon, Willie, Brunner, Han G., Bongers, Ernie M.H.F., Trembath, Richard C.

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Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I by Astuto, Lisa M., Weston, Michael D., Carney, Carol A., Hoover, Denise M., Cremers, Cor W. R. J., Wagenaar, Mariette, Moller, Claes, Smith, Richard J. H., Pieke-Dahl, Sandra, Greenberg, Jacquie, Ramesar, Raj, Jacobson, Samuel G., Ayuso, Carmen, Heckenlively, John R., Tamayo, Marta, Gorin, Michael B., Reardon, Willie, Kimberling, William J.

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Mutations in HPSE2 Cause Urofacial Syndrome by Daly, Sarah B., Urquhart, Jill E., Hilton, Emma, McKenzie, Edward A., Kammerer, Richard A., Lewis, Malcolm, Kerr, Bronwyn, Stuart, Helen, Donnai, Dian, Long, David A., Burgu, Berk, Aydogdu, Ozgu, Derbent, Murat, Garcia-Minaur, Sixto, Reardon, Willie, Gener, Blanca, Shalev, Stavit, Smith, Rupert, Woolf, Adrian S., Black, Graeme C., Newman, William G.

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Mutations in HPSE2 Cause Urofacial Syndrome by Daly, Sarah B., Urquhart, Jill E., Hilton, Emma, McKenzie, Edward A., Kammerer, Richard A., Lewis, Malcolm, Kerr, Bronwyn, Stuart, Helen, Donnai, Dian, Long, David A., Burgu, Berk, Aydogdu, Ozgu, Derbent, Murat, Garcia-Minaur, Sixto, Reardon, Willie, Gener, Blanca, Shalev, Stavit, Smith, Rupert, Woolf, Adrian S., Black, Graeme C., Newman, William G.

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Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies by Nowakowska, Beata A, de Leeuw, Nicole, Ruivenkamp, Claudia AL, Sikkema-Raddatz, Birgit, Crolla, John A, Thoelen, Reinhilde, Koopmans, Marije, den Hollander, Nicolette, van Haeringen, Arie, van der Kevie-Kersemaekers, Anne-Marie, Pfundt, Rolph, Mieloo, Hanneke, van Essen, Ton, de Vries, Bert B A, Green, Andrew, Reardon, Willie, Fryns, Jean-Pierre, Vermeesch, Joris R

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Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies by Southgate, Laura, Machado, Rajiv D., Snape, Katie M., Primeau, Martin, Dafou, Dimitra, Ruddy, Deborah M., Branney, Peter A., Fisher, Malcolm, Lee, Grace J., Simpson, Michael A., He, Yi, Bradshaw, Teisha Y., Blaumeiser, Bettina, Winship, William S., Reardon, Willie, Maher, Eamonn R., FitzPatrick, David R., Wuyts, Wim, Zenker, Martin, Lamarche-Vane, Nathalie, Trembath, Richard C.

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Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations by Voigt, Claudia, Mégarbané, André, Neveling, Kornelia, Czeschik, Johanna Christina, Albrecht, Beate, Callewaert, Bert, von Deimling, Florian, Hehr, Andreas, Falkenberg Smeland, Marie, König, Rainer, Kuechler, Alma, Marcelis, Carlo, Puiu, Maria, Reardon, Willie, Riise Stensland, Hilde Monica Frostad, Schweiger, Bernd, Steehouwer, Marloes, Teller, Christopher, Martin, Marcel, Rahmann, Sven, Hehr, Ute, Brunner, Han G, Lüdecke, Hermann-Josef, Wieczorek, Dagmar

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Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort by Meester, Josephina A.N., Sukalo, Maja, Schröder, Kim C., Schanze, Denny, Baynam, Gareth, Borck, Guntram, Bramswig, Nuria C., Duman, Duygu, Gilbert‐Dussardier, Brigitte, Holder‐Espinasse, Muriel, Itin, Peter, Johnson, Diana S., Joss, Shelagh, Koillinen, Hannele, McKenzie, Fiona, Morton, Jenny, Nelle, Heike, Reardon, Willie, Roll, Claudia, Salih, Mustafa A., Savarirayan, Ravi, Scurr, Ingrid, Splitt, Miranda, Thompson, Elizabeth, Titheradge, Hannah, Travers, Colm P., Van Maldergem, Lionel, Whiteford, Margo, Wieczorek, Dagmar, Vandeweyer, Geert, Trembath, Richard, Van Laer, Lut, Loeys, Bart L., Zenker, Martin, Southgate, Laura, Wuyts, Wim

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Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort by Bertoli-Avella, Aida M., Beetz, Christian, Ameziane, Najim, Rocha, Maria Eugenia, Guatibonza, Pilar, Pereira, Catarina, Calvo, Maria, Herrera-Ordonez, Natalia, Segura-Castel, Monica, Diego-Alvarez, Dan, Zawada, Michal, Kandaswamy, Krishna K., Werber, Martin, Paknia, Omid, Zielske, Susan, Ugrinovski, Dimitar, Warnack, Gitte, Kampe, Kapil, Iurașcu, Marius-Ionuț, Cozma, Claudia, Vogel, Florian, Alhashem, Amal, Hertecant, Jozef, Al-Shamsi, Aisha M., Alswaid, Abdulrahman Faiz, Eyaid, Wafaa, Al Mutairi, Fuad, Alfares, Ahmed, Albalwi, Mohammed A., Alfadhel, Majid, Al-Sannaa, Nouriya Abbas, Reardon, Willie, Alanay, Yasemin, Rolfs, Arndt, Bauer, Peter

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Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis by de Munnik, Sonja A, Bicknell, Louise S, Aftimos, Salim, Al-Aama, Jumana Y, van Bever, Yolande, Bober, Michael B, Clayton-Smith, Jill, Edrees, Alaa Y, Feingold, Murray, Fryer, Alan, van Hagen, Johanna M, Hennekam, Raoul C, Jansweijer, Maaike C E, Johnson, Diana, Kant, Sarina G, Opitz, John M, Ramadevi, A Radha, Reardon, Willie, Ross, Alison, Sarda, Pierre, Schrander-Stumpel, Constance T R M, Schoots, Jeroen, Temple, I Karen, Terhal, Paulien A, Toutain, Annick, Wise, Carol A, Wright, Michael, Skidmore, David L, Samuels, Mark E, Hoefsloot, Lies H, Knoers, Nine V A M, Brunner, Han G, Jackson, Andrew P, Bongers, Ernie M H F

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De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia by Haijes, Hanneke A., Koster, Maria J.E., Rehmann, Holger, Li, Dong, Hakonarson, Hakon, Cappuccio, Gerarda, Hancarova, Miroslava, Lehalle, Daphne, Reardon, Willie, Schaefer, G. Bradley, Lehman, Anna, van de Laar, Ingrid M.B.H., Tesselaar, Coranne D., Turner, Clesson, Goldenberg, Alice, Patrier, Sophie, Thevenon, Julien, Pinelli, Michele, Brunetti-Pierri, Nicola, Prchalová, Darina, Havlovicová, Markéta, Vlckova, Markéta, Sedláček, Zdeněk, Lopez, Elena, Ragoussis, Vassilis, Pagnamenta, Alistair T., Kini, Usha, Vos, Harmjan R., van Es, Robert M., van Schaik, Richard F.M.A., van Essen, Ton A.J., Kibaek, Maria, Taylor, Jenny C., Sullivan, Jennifer, Shashi, Vandana, Petrovski, Slave, Fagerberg, Christina, Martin, Donna M., van Gassen, Koen L.I., Pfundt, Rolph, Falk, Marni J., McCormick, Elizabeth M., Timmers, H.T. Marc, van Hasselt, Peter M.

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