Resultados da busca - Jacques C. Giltay

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  1. 1
    The genetic origin of Klinefelter syndrome and its effect on spermatogenesis

    The genetic origin of Klinefelter syndrome and its effect on spermatogenesis por Merel C. Maiburg, Sjoerd Repping, Jacques C. Giltay

    Publicado em 2012
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  2. 2
    A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome

    A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome por Deniz Kanber, Jacques C. Giltay, Dagmar Wieczorek, Corinna Zogel, Ron Hochstenbach, Almuth Caliebe, Alma Kuechler, Bernhard Horsthemke, Karin Buiting

    Publicado em 2008
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  3. 3
    Further confirmation of the MED13L haploinsufficiency syndrome

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

    Publicado em 2014
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  4. 4
    Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability

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

    Publicado em 2017
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  5. 5
    Erythematous nodes, urticarial rash and arthralgias in a large pedigree with <i> <scp>NLRC</scp> 4 </i> ‐related autoinflammatory disease, expansion of the phenotype

    Erythematous nodes, urticarial rash and arthralgias in a large pedigree with <i> <scp>NLRC</scp> 4 </i> ‐related autoinflammatory disease, expansion of the phenotype por Catharina M.L. Volker‐Touw, Heleen D. de Koning, Jacques C. Giltay, Carolien G. F. de Kovel, Tessa S. van Kempen, Karin Oberndorff, Marianne Boes, Maurice A. M. Van Steensel, Gijs T. J. van Well, Willeke A.M. Blokx, Joost Schalkwijk, Anna Simon, Joost Frenkel, Mariëlle van Gijn

    Publicado em 2016
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  6. 6
    Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue

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

    Publicado em 2017
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  7. 7
    Expanding the Spectrum of<i>FOXC1</i>and<i>PITX2</i>Mutations and Copy Number Changes in Patients with Anterior Segment Malformations

    Expanding the Spectrum of<i>FOXC1</i>and<i>PITX2</i>Mutations and Copy Number Changes in Patients with Anterior Segment Malformations por Barbara D′haene, Françoise Meire, Ilse Claerhout, Hester Y. Kroes, Astrid S. Plomp, Yvonne Arens, Thomy de Ravel, Ingele Casteels, Sarah De Jaegere, Sally Hooghe, Wim Wuyts, Jenneke van den Ende, Françoise Roulez, Hermine E. Veenstra‐Knol, Rogier A. Oldenburg, Jacques C. Giltay, Johanna B. G. M. Verheij, Jan-Tjeerd de Faber, Björn Menten, Anne De Paepe, Philippe Kestelyn, Bart P. Leroy, Elfride De Baere

    Publicado em 2010
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  8. 8
    Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux

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

    Publicado em 2007
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  9. 9
    Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

    Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations por Joris M. van Montfrans, Esther A R Hartman, Kees P. J. Braun, Eric A. M. Hennekam, Elisabeth A. Hak, Paul J. Nederkoorn, Willeke F. Westendorp, Robbert G. M. Bredius, Wouter J.W. Kollen, Elisabeth H. Schölvinck, G. Elizabeth Legger, Isabelle Meyts, Adrian Liston, Klaske D. Lichtenbelt, Jacques C. Giltay, Gijs van Haaften, Gaby M. De Vries Simons, Helen L. Leavis, Cornelis J. G. Sanders, Marc Bierings, Stefan Nierkens, Marielle E van Gijn

    Publicado em 2016
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  10. 10
    Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

    Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations por Elizabeth A. Werren, Emily Peirent, Henna Jäntti, Alba Guxholli, Kinshuk Raj Srivastava, Naama Orenstein, Vinodh Narayanan, Wojciech Wiszniewski, Mateusz Dawidziuk, Paweł Gawliński, Muhammad Umair, Amjad Khan, Shahid Niaz Khan, David Geneviève, Daphné Lehalle, Koen L.I. van Gassen, Jacques C. Giltay, Renske Oegema, Richard H. van Jaarsveld, Rafiullah Rafiullah, Gudrun Rappold, Rachel Rabin, John Pappas, Marsha M. Wheeler, Michael J. Bamshad, Yao-Chang Tsan, Matthew B. Johnson, Catherine E. Keegan, Anshika Srivastava, Stephanie Bielas

    Publicado em 2024
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  11. 11
    Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT

    Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT por Nayia Nicolaou, Sara L. Pulit, Isaäc J. Nijman, Glen R. Monroe, Wout Feitz, Michiel F. Schreuder, Albertien M. van Eerde, Tom P.V.M. de Jong, Jacques C. Giltay, Bert van der Zwaag, Marlies R. Havenith, Susan Zwakenberg, Loes F.M. van der Zanden, Geert Poelmans, Marlies Cornelissen, Marc R. Liliën, Barbara Franke, Nel Roeleveld, Iris A.L.M. van Rooij, Edwin Cuppen, Ernie M.H.F. Bongers, Rachel H. Giles, Nine Knoers, Kirsten Y. Renkema

    Publicado em 2015
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  12. 12
    The genetic basis of DOORS syndrome: an exome-sequencing study

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

    Publicado em 2013
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  13. 13
    Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome

    Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome por Linda A.J. Hendricks, Nicoline Hoogerbrugge, Arjen R. Mensenkamp, Joan Brunet, Roser Lleuger-Pujol, Hildegunn Høberg‐Vetti, Marianne Tveit Haavind, Giovanni Innella, Daniela Turchetti, Stefan Aretz, Isabel Spier, Marc Tischkowitz, Arne Jahn, Thera P. Links, Maran J.W. Olderode-Berends, Ana Blatnik, Edward M. Leter, D. Gareth Evans, Emma R. Woodward, Verena Steinke‐Lange, Violetta Anastasiadou, Chrystelle Colas, Marie‐Charlotte Villy, Patrick R. Benusiglio, А. В. Герасименко, Valeria Barili, Maud Branchaud, Claude Houdayer, Bianca Tesi, Mustafa Ömer Yazıcıoğlu, Rachel S. van der Post, Janneke Schuurs-Hoeijmakers, Liselotte P. van Hest, Muriel A. Adank, Floor A.M. Duijkers, Maartje Nielsen, Katja C J Verbeek, Yvette van Ierland, Jacques C. Giltay, Janet R. Vos, Janet R. Vos

    Publicado em 2022
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  14. 14
    Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

    Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling por Lot Snijders Blok, Erik Madsen, Jane Juusola, Christian Gilissen, Diana Baralle, Margot R.F. Reijnders, Hanka Venselaar, Céline Helsmoortel, Megan T. Cho, Alexander Hoischen, Lisenka E.L.M. Vissers, Tom S. Koemans, W.M. Wissink-Lindhout, Evan E. Eichler, Corrado Romano, Hilde Van Esch, Connie T. R. M. Stumpel, Maaike Vreeburg, Eric Smeets, Karin Oberndorff, Bregje W.M. van Bon, Marie Shaw, Jozef Gécz, Eric Haan, Melanie Bienek, Corinna Jensen, Bart Loeys, Anke Van Dijck, A. Micheil Innes, Hilary Racher, Sascha Vermeer, Nataliya Di Donato, Andreas Rump, Katrina Tatton‐Brown, Michael Parker, Alex Henderson, Sally Ann Lynch, Alan Fryer, Alison Ross, Pradeep Vasudevan, Usha Kini, Ruth Newbury‐Ecob, Kate Chandler, Alison Male, Sybe Dijkstra, Jolanda Schieving, Jacques C. Giltay, Koen L.I. van Gassen, Janneke Schuurs-Hoeijmakers, Perciliz L. Tan, Igor Pediaditakis, Stefan A. Haas, Kyle Retterer, Patrick Reed, Kristin G. Monaghan, Eden Haverfield, Marvin R. Natowicz, Angela Myers, Michael C. Kruer, Quinn Stein, Kevin A. Strauss, Karlla W. Brigatti, Katherine E. Keating, Barbara K. Burton, Katherine H. Kim, Joel Charrow, Jennifer Norman, Audrey Foster‐Barber, Antonie D. Kline, Amy Kimball, Elaine H. Zackai, Margaret Harr, Joyce E. Fox, Julie McLaughlin, Kristin Lindstrom, Katrina Haude, Kees van Roozendaal, Han G. Brunner, Wendy K. Chung, R. Frank Kooy, Rolph Pfundt, Vera M. Kalscheuer, Sarju Mehta, Nicholas Katsanis, Tjitske Kleefstra

    Publicado em 2015
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  15. 15
    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles por Sadegheh Haghshenas, Hidde J. Bout, Josephine Schijns, Michael A. Levy, Jennifer Kerkhof, Pratibha Bhai, Haley McConkey, Zandra A. Jenkins, Ella M. Williams, Benjamin J. Halliday, Sylvia Huisman, Peter Lauffer, Vivian de Waard, Laura Witteveen, Siddharth Banka, Angela F. Brady, Elena Galazzi, Julien Van‐Gils, Anna Hurst, Frank J. Kaiser, Didier Lacombe, Antonio Federico Martínez‐Monseny, Patricia Fergelot, Fabíola Paoli Monteiro, Ilaria Parenti, Luca Persani, Fernando Santos‐Simarro, Brittany Simpson, Andrea Angius, Janice Baker, Emma Bedoukian, Vikas Bhambhani, Olaf A. Bodamer, Alan O’Brien, Jill Clayton‐Smith, Laura Crisponi, Anna M. Cueto‐González, the DDD study, Koenraad Devriendt, Elena Garrido, Nadja Ehmke, Albertien M. van Eerde, Annette P.M. van den Elzen, Laurence Faivre, Laura J. Fisher, Josue Flores-Daboub, Alison Foster, Jennifer Friedman, Elisabeth Gabau, Elena Galazzi, Sixto García‐Miñaúr, Livia Garavelli, Thatjana Gardeitchik, Erica H. Gerkes, Julien Van‐Gils, Jacques C. Giltay, Aixa Gonzalez Garcia, Ketil Heimdal, Denise Horn, Gunnar Houge, Sophia B. Hufnagel, Denisa Ilenčíková, Sophie Julia, Sarina G. Kant, Esther Kinning, Eric W. Klee, Chelsea Kois, M. Kovacevic, A.M.A. Lachmeijer, Brendan C. Lanpher, Marine Lebrun, Eyby Leon, Angie Lichty, Ruth Lin, Isabel Llano‐Rivas, Sally Ann Lynch, Saskia M. Maas, Silvia Maitz, Shane McKee, Daniela Melis, Elisabetta Merati, Giuseppe Merla, Ruth Newbury‐Ecob, Mathilde Nizon, Soo-Mi Park, Jennifer Patterson, Florence Petit, Hilde Peeters, Luca Persani, Ivana Persico, Valentina Pes, Marzia Pollazzon, Thomas P. Potjer, Lorraine Potocki, Carrie Pottinger, Chitra Prasad, Eloise J. Prijoles, Nicola Ragge, Jan Peter Rake, Conny M.A. van Ravenswaaij‐Arts

    Publicado em 2024
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