Hakutulokset - Giltay, Jacques C

Attitudes of Klinefelter men and their relatives towards TESE-ICSI Tekijä Maiburg, Merel C., Hoppenbrouwers, Alissia C., van Stel, Henk F., Giltay, Jacques C.

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Further confirmation of the MED13L haploinsufficiency syndrome Tekijä van Haelst, Mieke M, Monroe, Glen R, Duran, Karen, van Binsbergen, Ellen, Breur, Johannes M, Giltay, Jacques C, van Haaften, Gijs

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A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder Tekijä Tessadori, Federico, Rehman, Atteeq U., Giltay, Jacques C., Xia, Fan, Streff, Haley, Duran, Karen, Bakkers, Jeroen, Lalani, Seema R., van Haaften, Gijs

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Linkage study of 14 candidate genes and loci in four large Dutch families with vesico-ureteral reflux Tekijä van Eerde, Albertien M., Koeleman, Bobby P. C., van de Kamp, Jiddeke M., de Jong, Tom P. V. M., Wijmenga, Cisca, Giltay, Jacques C.

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Tetraploid/Diploid Mosaicism in Cultured Genital Skin Fibroblasts: Is It Causally Related to Penoscrotal Hypospadias? Tekijä Giltay, Jacques C., Klijn, Aart J., de Jong, Tom P.V.M., Kats, Peter, van Breugel, Marjolijn, Lens, Susan, Vromans, Martijn, van der Veken, Lars T., Hochstenbach, Ron

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Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability Tekijä Willems, Anke P., Gundogdu, Mehmet, Kempers, Marlies J. E., Giltay, Jacques C., Pfundt, Rolph, Elferink, Martin, Loza, Bettina F., Fuijkschot, Joris, Ferenbach, Andrew T., van Gassen, Koen L. I., van Aalten, Daan M. F., Lefeber, Dirk J.

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The Clinical Spectrum of Missense Mutations of the First Aspartic Acid of cbEGF-like Domains in Fibrillin-1 Including a Recessive Family Tekijä Hilhorst-Hofstee, Yvonne, Rijlaarsdam, Marry EB, Scholte, Arthur JHA, Swart-van den Berg, Marietta, Versteegh, Michel IM, van der Schoot-van Velzen, Iris, Schäbitz, Hans-Joachim, Bijlsma, Emilia K, Baars, Marieke J, Kerstjens-Frederikse, Wilhelmina S, Giltay, Jacques C, Hamel, Ben C, Breuning, Martijn H, Pals, Gerard

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Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue Tekijä Theil, Arjan F, Mandemaker, Imke K, van den Akker, Emile, Swagemakers, Sigrid M A, Raams, Anja, Wüst, Tatjana, Marteijn, Jurgen A, Giltay, Jacques C, Colombijn, Richard M, Moog, Ute, Kotzaeridou, Urania, Ghazvini, Mehrnaz, von Lindern, Marieke, Hoeijmakers, Jan H J, Jaspers, Nicolaas G J, van der Spek, Peter J, Vermeulen, Wim

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Maternal risk associated with the VACTERL association: A case–control study Tekijä van de Putte, Romy, de Walle, Hermien E. K., van Hooijdonk, Kirsten J. M., de Blaauw, Ivo, Marcelis, Carlo L. M., van Heijst, Arno, Giltay, Jacques C., Renkema, Kirsten Y., Broens, Paul M. A., Brosens, Erwin, Sloots, Cornelius E. J., Bergman, Jorieke E. H., Roeleveld, Nel, van Rooij, Iris A. L. M.

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Genes in the Ureteric Budding Pathway: Association Study on Vesico-Ureteral Reflux Patients Tekijä van Eerde, Albertien M., Duran, Karen, van Riel, Els, de Kovel, Carolien G. F., Koeleman, Bobby P. C., Knoers, Nine V. A. M., Renkema, Kirsten Y., van der Horst, Henricus J. R., Bökenkamp, Arend, van Hagen, Johanna M., van den Berg, Leonard H., Wolffenbuttel, Katja P., van den Hoek, Joop, Feitz, Wouter F., de Jong, Tom P. V. M., Giltay, Jacques C., Wijmenga, Cisca

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Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux Tekijä Lu, Weining, van Eerde, Albertien M., Fan, Xueping, Quintero-Rivera, Fabiola, Kulkarni, Shashikant, Ferguson, Heather, Kim, Hyung-Goo, Fan, Yanli, Xi, Qiongchao, Li, Qing-gang, Sanlaville, Damien, Andrews, William, Sundaresan, Vasi, Bi, Weimin, Yan, Jiong, Giltay, Jacques C., Wijmenga, Cisca, de Jong, Tom P. V. M., Feather, Sally A., Woolf, Adrian S., Rao, Yi, Lupski, James R., Eccles, Michael R., Quade, Bradley J., Gusella, James F., Morton, Cynthia C., Maas, Richard L.

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Phenotype Delineation of ZNF462 related syndrome Tekijä Kruszka, Paul, Hu, Tommy, Hong, Sungkook, Signer, Rebecca, Cogné, Benjamin, Isidor, Betrand, Mazzola, Sarah E., Giltay, Jacques C., van Gassen, Koen L.I., England, Eleina M., Pais, Lynn, Ockeloen, Charlotte W., Sanchez-Lara, Pedro A., Kinning, Esther, Adams, Darius J, Treat, Kayla, Torres-Martinez, Wilfredo, Bedeschi, Maria Francesca, Iascone, Maria, Blaney, Stephanie, Bell, Oliver, Tan, Tiong Y., Delrue, Marie-Ange, Jurgens, Julie, Barry, Brenda J., Engle, Elizabeth C., Savage, Sarah K., Fleischer, Nicole, Martinez-Agosto, Julian A., Boycott, Kym, Zackai, Elaine H., Muenke, Maximilian

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Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood Tekijä Levy, Michael A., Beck, David B., Metcalfe, Kay, Douzgou, Sofia, Sithambaram, Sivagamy, Cottrell, Trudie, Ansar, Muhammad, Kerkhof, Jennifer, Mignot, Cyril, Nougues, Marie-Christine, Keren, Boris, Moore, Hannah W., Oegema, Renske, Giltay, Jacques C., Simon, Marleen, van Jaarsveld, Richard H., Bos, Jessica, van Haelst, Mieke, Motazacker, M. Mahdi, Boon, Elles M. J., Santen, Gijs W. E., Ruivenkamp, Claudia A. L., Alders, Marielle, Luperchio, Teresa Romeo, Boukas, Leandros, Ramsey, Keri, Narayanan, Vinodh, Schaefer, G. Bradley, Bonasio, Roberto, Doheny, Kimberly F., Stevenson, Roger E., Banka, Siddharth, Sadikovic, Bekim, Fahrner, Jill A.

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Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood Tekijä Levy, Michael A., Beck, David B., Metcalfe, Kay, Douzgou, Sofia, Sithambaram, Sivagamy, Cottrell, Trudie, Ansar, Muhammad, Kerkhof, Jennifer, Mignot, Cyril, Nougues, Marie-Christine, Keren, Boris, Moore, Hannah W., Oegema, Renske, Giltay, Jacques C., Simon, Marleen, van Jaarsveld, Richard H., Bos, Jessica, van Haelst, Mieke, Motazacker, M. Mahdi, Boon, Elles M. J., Santen, Gijs W. E., Ruivenkamp, Claudia A. L., Alders, Marielle, Luperchio, Teresa Romeo, Boukas, Leandros, Ramsey, Keri, Narayanan, Vinodh, Schaefer, G. Bradley, Bonasio, Roberto, Doheny, Kimberly F., Stevenson, Roger E., Banka, Siddharth, Sadikovic, Bekim, Fahrner, Jill A.

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The genetic basis of DOORS syndrome: an exome-sequencing study Tekijä Campeau, Philippe M, Kasperaviciute, Dalia, Lu, James T, Burrage, Lindsay C, Kim, Choel, Hori, Mutsuki, Powell, Berkley R, Stewart, Fiona, Félix, Têmis Maria, van den Ende, Jenneke, Wisniewska, Marzena, Kayserili, Hülya, Rump, Patrick, Nampoothiri, Sheela, Aftimos, Salim, Mey, Antje, Nair, Lal D V, Begleiter, Michael L, De Bie, Isabelle, Meenakshi, Girish, Murray, Mitzi L, Repetto, Gabriela M, Golabi, Mahin, Blair, Edward, Male, Alison, Giuliano, Fabienne, Kariminejad, Ariana, Newman, William G, Bhaskar, Sanjeev S, Dickerson, Jonathan E, Kerr, Bronwyn, Banka, Siddharth, Giltay, Jacques C, Wieczorek, Dagmar, Tostevin, Anna, Wiszniewska, Joanna, Cheung, Sau Wai, Hennekam, Raoul C, Gibbs, Richard A, Lee, Brendan H, Sisodiya, Sanjay M

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Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder Tekijä Küry, Sébastien, Ebstein, Frédéric, Mollé, Alice, Besnard, Thomas, Lee, Ming-Kang, Vignard, Virginie, Hery, Tiphaine, Nizon, Mathilde, Mancini, Grazia M.S., Giltay, Jacques C., Cogné, Benjamin, McWalter, Kirsty, Deb, Wallid, Mor-Shaked, Hagar, Li, Hong, Schnur, Rhonda E., Wentzensen, Ingrid M., Denommé-Pichon, Anne-Sophie, Fourgeux, Cynthia, Verheijen, Frans W., Faurie, Eva, Schot, Rachel, Stevens, Cathy A., Smits, Daphne J., Barr, Eileen, Sheffer, Ruth, Bernstein, Jonathan A., Stimach, Chandler L., Kovitch, Eliana, Shashi, Vandana, Schoch, Kelly, Smith, Whitney, van Jaarsveld, Richard H., Hurst, Anna C.E., Smith, Kirstin, Baugh, Evan H., Bohm, Suzanne G., Vyhnálková, Emílie, Ryba, Lukáš, Delnatte, Capucine, Neira, Juanita, Bonneau, Dominique, Toutain, Annick, Rosenfeld, Jill A., Audebert-Bellanger, Séverine, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Laumonnier, Frédéric, Berger, Seth I., Smith, Ann C.M., Bourdeaut, Franck, Stern, Marc-Henri, Redon, Richard, Krüger, Elke, Margueron, Raphaël, Bézieau, Stéphane, Poschmann, Jeremie, Isidor, Bertrand

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