检索结果 - Sue Price

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  1. 1
    Characterization of a recurrent 15q24 microdeletion syndrome

    Characterization of a recurrent 15q24 microdeletion syndrome 由 Andrew J. Sharp, Rebecca R. Selzer, Joris A. Veltman, Stefania Gimelli, Giorgio Gimelli, Pasquale Striano, Antonietta Coppola, Regina Regan, Sue Price, Nine V.A.M. Knoers, Peggy S. Eis, Han G. Brunner, Raoul C. M. Hennekam, Samantha J.L. Knight, Bert B.A. de Vries, Orsetta Zuffardi, Evan E. Eichler

    出版 2007
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  2. 2
    EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

    EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations 由 Veerle Rc Eggens, P. G. Barth, Jikke-Mien F. Niermeijer, Jonathan Berg, Niklas Darín, Abhijit Dixit, Joël Fluss, Nicola Foulds, Darren Fowler, Tibor Hortobágyi, Thomas S. Jacques, Mary D. King, Periklis Makrythanasis, Adrienn Máté, James A. R. Nicoll, Declan O’Rourke, Sue Price, Andrew N. Williams, Louise C. Wilson, Mohnish Suri, László Sztriha, Marit B Dijns-de Wissel, Mia T van Meegen, Fred van Ruissen, Eleonora Aronica, Dirk Troost, Charles B.L.M. Majoie, Henk A. Marquering, Bwee Tien Poll‐The, Frank Baas

    出版 2014
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  3. 3
    De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

    De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations 由 Margot R.F. Reijnders, Vasilios Zachariadis, Brooke Latour, Lachlan A. Jolly, Grazia M.S. Mancini, Rolph Pfundt, Ka Man Wu, Conny M.A. van Ravenswaaij‐Arts, Hermine E. Veenstra‐Knol, Britt‐Marie Anderlid, Stephen A. Wood, Sau Wai Cheung, Angela Barnicoat, Frank J. Probst, Pilar Magoulas, Alice S. Brooks, Helena Malmgren, Arja Harila‐Saari, Carlo Marcelis, Maaike Vreeburg, Emma Hobson, V. Reid Sutton, Zornitza Stark, Julie Vogt, Nicola Cooper, Jiin Ying Lim, Sue Price, Angeline Lai, Deepti Domingo, Bruno Reversade, Jozef Gécz, Christian Gilissen, Han G. Brunner, Usha Kini, Ronald Roepman, Ann Nordgren, Tjitske Kleefstra

    出版 2016
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  4. 4
    Further delineation of the KAT6B molecular and phenotypic spectrum

    Further delineation of the KAT6B molecular and phenotypic spectrum 由 Tamsin Gannon, Rahat Perveen, Hélene Schlecht, Simon Ramsden, Beverley Anderson, Bronwyn Kerr, Ruth Day, Siddharth Banka, Mohnish Suri, Siren Berland, Michael T. Gabbett, Alan Ma, Stanislas Lyonnet, Valérie Cormier‐Daire, Rüstem Yilmaz, Guntram Borck, Dagmar Wieczorek, Britt‐Marie Anderlid, Sarah Smithson, Julie Vogt, Heather Moore-Barton, Pelin Özlem Şimşek‐Kiper, Isabelle Maystadt, Anne Destrèe, Jessica Bucher, Brad Angle, Shehla Mohammed, Emma Wakeling, Sue Price, Amihood Singer, Yves Sznajer, Annick Toutain, Damien Haye, Ruth Newbury‐Ecob, Mélanie Fradin, Julie McGaughran, Beyhan Tüysüz, Mark Tein, Katelijne Bouman, Tabib Dabir, Jenneke van den Ende, Ho‐Ming Luk, Daniela T. Pilz, Jacqueline Eason, Sally Davies, William Reardon, Livia Garavelli, Orsetta Zuffardi, Koenraad Devriendt, Ruth Armstrong, Diana Johnson, Martine Doco‐Fenzy, Emilia Bijlsma, Sheila Unger, Hermine E. Veenstra‐Knol, Jürgen Kohlhase, Ivan F. M. Lo, Janine Smith, Jill Clayton‐Smith

    出版 2014
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  5. 5
    Further delineation of Malan syndrome

    Further delineation of Malan syndrome 由 Manuela Priolo, Denny Schanze, Katrin Tatton-Brown, Paul A. Mulder, Jair Tenorio, Kreepa Kooblall, Inés Hernández Acero, Fowzan S. Alkuraya, Pedro Arias, Laura Bernardini, Emilia K. Bijlsma, Trevor Cole, Christine Coubes, Irene Dapía, Sally Davies, Nataliya Di Donato, Nursel Elçioğlu, Jill A. Fahrner, Alison Foster, Noelia García González, Ilka Huber, Maria Iascone, Ann-Sophie Kaiser, Arveen Kamath, Jan Liebelt, Sally Ann Lynch, Saskia M. Maas, Corrado Mammì, Inge B. Mathijssen, Shane McKee, Leonie A. Menke, Ghayda Mirzaa, Tara Montgomery, D. Neubauer, Thomas Neumann, Letizia Pintomalli, Maria Antonietta Pisanti, Astrid S. Plomp, Sue Price, Claire Salter, Fernando Santos‐Simarro, Pierre Sarda, Mabel Segovia, Charles Shaw‐Smith, Sarah Smithson, Mohnish Suri, Rita Valdéz, Arie van Haeringen, Johanna M. van Hagen, Marcella Zollino, Pablo Lapunzina, Rajesh V. Thakker, Martin Zenker, Raoul C. M. Hennekam

    出版 2018
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  6. 6
    Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

    Clinical and molecular delineation of the 17q21.31 microdeletion syndrome 由 David A. Koolen, Andrew J. Sharp, Jane A. Hurst, Helen V. Firth, Samantha J.L. Knight, Alice Goldenberg, Pascale Saugier‐Veber, Rolph Pfundt, Lisenka E.L.M. Vissers, Anne Destrèe, Bernard Grisart, Liesbeth Rooms, Nathalie Van der Aa, Michael Field, Anna Hackett, Katrina M. Bell, M.J.M. Nowaczyk, Grazia M.S. Mancini, Pino J. Poddighe, Charles E. Schwartz, Elena Rossi, Manuela De Gregori, Lucinda Antonacci-Fulton, Michael D. McLellan, J M Garrett, Maddy Wiechert, Tracie L. Miner, Seth D. Crosby, Roberto Ciccone, Lionel Willatt, Anita Rauch, Martin Zenker, Swaroop Aradhya, Melanie A. Manning, Tim M. Strom, Janine Wagenstaller, Ana Cristina Victorino Krepischi, Angela Maria Vianna‐Morgante, Carla Rosenberg, Sue Price, Helen Stewart, Charles Shaw‐Smith, Han G. Brunner, Andrew O.M. Wilkie, Joris A. Veltman, Orsetta Zuffardi, Evan E. Eichler, Bert B.A. de Vries

    出版 2008
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