Bilaketaren emaitzak - Michael T. Gabbett

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  1. 1
    Carpenter syndrome: extended <i>RAB23</i> mutation spectrum and analysis of nonsense‐mediated mRNA decay

    Carpenter syndrome: extended <i>RAB23</i> mutation spectrum and analysis of nonsense‐mediated mRNA decay nork Dagan Jenkins, Gareth Baynam, Luc De Catte, Nursel Elçioǧlu, Michael T. Gabbett, Louanne Hudgins, Jane A. Hurst, Fernanda Sarquis Jehee, Christine Oley, Andrew O.M. Wilkie

    Argitaratua 2011
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  2. 2
    Molecular Support for Heterogonesis Resulting in Sesquizygotic Twinning

    Molecular Support for Heterogonesis Resulting in Sesquizygotic Twinning nork Michael T. Gabbett, Johanna Laporte, Renuka Sekar, Adayapalam Nandini, Pauline McGrath, Yadav Sapkota, Peiyong Jiang, Haiqiang Zhang, Trent Burgess, Grant W. Montgomery, Rossa W. K. Chiu, Nicholas M. Fisk

    Argitaratua 2019
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  3. 3
    Mutation update for the PORCN gene

    Mutation update for the PORCN gene nork Maria Lombardi, Saskia Bulk, Jacopo Celli, Anne Lampe, Michael T. Gabbett, Lilian Bomme Ousager, Jasper J. van der Smagt, Maria Soller, Eva‐Lena Stattin, Marcel A.M.M. Mannens, Robert Śmigiel, Raoul C. Hennekam

    Argitaratua 2011
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  4. 4
    Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

    Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome nork Annette F. Baas, Michael T. Gabbett, Milan Rimac, Minttu Kansikas, Martine Raphaël, Rutger A. J. Nievelstein, Wayne Nicholls, Johan Offerhaus, Daniëlle Bodmer, Annekatrin Wernstedt, Birgit Krabichler, Ulrich Strasser, Minna Nyström, Johannes Zschocke, Stephen P. Robertson, Mieke M. van Haelst, Katharina Wimmer

    Argitaratua 2012
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  5. 5
    Loss-of-function mutations in<i>SCN4A</i>cause severe foetal hypokinesia or ‘classical’ congenital myopathy

    Loss-of-function mutations in<i>SCN4A</i>cause severe foetal hypokinesia or ‘classical’ congenital myopathy nork Irina Zaharieva, Michael G. Thor, Emily C. Oates, Clara van Karnebeek, Glenda Hendson, Eveline W Blom, Nanna Witting, Magnhild Rasmussen, Michael T. Gabbett, Gianina Ravenscroft, Maria Sframeli, Karen Suetterlin, Anna Sárközy, L. D'Argenzio, Louise Hartley, Emma Matthews, Matthew Pitt, John Vissing, Martin Ballegaard, Christian Krarup, Andreas Slørdahl, Hanne Halvorsen, Xin Cynthia Ye, Lin-Hua Zhang, Nicoline Løkken, Ulla Werlauff, Mena Abdelsayed, Mark R. Davis, Lucy Feng, Rahul Phadke, Caroline A. Sewry, Jennifer E. Morgan, Nigel G. Laing, Hilary Vallance, Peter C. Ruben, Michael G. Hanna, M. E. Suzanne Lewis, Erik-Jan Kamsteeg, Roope Männikkö, Francesco Muntoni

    Argitaratua 2015
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  6. 6
    Further delineation of the KAT6B molecular and phenotypic spectrum

    Further delineation of the KAT6B molecular and phenotypic spectrum nork 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

    Argitaratua 2014
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  7. 7
    Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

    Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations nork Jennifer J. Johnston, Julie C. Sapp, Joyce Turner, David J. Amor, Salim Aftimos, Kyrieckos A. Aleck, Maureen Bocian, Joann Bodurtha, Gerald F. Cox, Cynthia J. Curry, Ruth Day, Dian Donnai, Michael Field, Ikuma Fujiwara, Michael T. Gabbett, Moran Gal, John M. Graham, Peter Hedera, Raoul C. M. Hennekam, Joseph H. Hersh, Robert J. Hopkin, Hülya Kayserili, Alexa Kidd, Virginia Kimonis, Angela E. Lin, Sally Ann Lynch, Melissa K. Maisenbacher, Sahar Mansour, Julie McGaughran, Lakshmi Mehta, Helen Murphy, Margarita Raygada, Nathaniel H. Robin, Alan F. Rope, Kenneth N. Rosenbaum, G. Bradley Schaefer, Amy Shealy, Wendy E. Smith, Maria Soller, Annmarie Sommer, Heather J. Stalker, Bernhard Steiner, Mark J. Stephan, David Tilstra, Susan Tomkins, Pamela Trapane, Anne Chun-Hui Tsai, Margot I. Van Allen, Pradeep Vasudevan, Bernhard Zabel, Janice Zunich, Graeme Black, Leslie G. Biesecker

    Argitaratua 2010
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  8. 8
    Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency

    Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency nork Stefano Vavassori, Janet Chou, Laura Faletti, Veronika Haunerdinger, Lennart Opitz, Pascal Joset, Christopher Fraser, Seraina Prader, Xianfei Gao, Luise A. Schuch, Matias Wagner, Julia Hoefele, Maria Elena Maccari, Ying Zhu, George Elakis, Michael T. Gabbett, Maria Forstner, Heymut Omran, Thomas Kaiser, Christina Keßler, Heike Olbrich, Patrick Frosk, Abduarahman Almutairi, Craig D. Platt, Megan Elkins, Sabrina Weeks, Tamar Rubin, Raquel Planas, Tommaso Marchetti, Danil Koovely, Verena Klämbt, Neveen A. Soliman, Sandra von Hardenberg, Christian Klemann, Ulrich Baumann, Dominic Lenz, Andreas Klein‐Franke, Martin Schwemmle, Michael Huber, Ekkehard Sturm, Steffen Hartleif, Karsten Häffner, Charlotte Gimpel, Barbara Brotschi, Guido F. Laube, Tayfun Güngör, Michael F. Buckley, Raimund Kottke, Christian Staufner, Friedhelm Hildebrandt, Simone Reu‐Hofer, Solange Moll, Achim Weber, Hundeep Kaur, Stephan Ehl, Sebastian Hiller, Raif S. Geha, Tony Roscioli, Matthias Griese, Jana Pachlopnik Schmid

    Argitaratua 2021
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  9. 9
    PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

    PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution nork Ghayda Mirzaa, Andrew E. Timms, Valerio Conti, Evan A. Boyle, Katta M. Girisha, Beth Martin, Martin Kircher, Carissa Olds, Jane Juusola, Sarah Collins, Kaylee Park, Melissa Carter, Ian Glass, Inge Krägeloh-Mann, David Chitayat, Aditi Shah Parikh, Rachael Bradshaw, Erin Torti, Steve Braddock, Leah W. Burke, Sondhya Ghedia, Mark Stephan, Fiona Stewart, Chitra Prasad, Melanie Napier, Sulagna C. Saitta, Rachel Straussberg, Michael T. Gabbett, Bridget O’Connor, Catherine E. Keegan, Lim Jiin Yin, Angeline Lai, Nicole Martin, Margaret L. McKinnon, Marie-Claude Addor, Luigi Boccuto, Charles E. Schwartz, Agustina Lanöel, Robert L. Conway, Koenraad Devriendt, Katrina Tatton‐Brown, Mary Ella Pierpont, Michael J. Painter, Lisa Worgan, James D. Reggin, Raoul C. M. Hennekam, Karen D. Tsuchiya, Colin C. Pritchard, Mariana Aracena, Karen W. Gripp, Maria Cordisco, Hilde Van Esch, Livia Garavelli, Cynthia J. Curry, Anne Goriely, Hülya Kayserilli, Jay Shendure, John M. Graham, Renzo Guerrini, William B. Dobyns

    Argitaratua 2016
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