Zoekresultaten - Tracy Dudding‐Byth

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  1. 1
    <i>IQSEC2</i>mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy

    <i>IQSEC2</i>mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy door Cheryl Shoubridge, Victoria L. Harvey, Tracy Dudding‐Byth

    Gepubliceerd in 2018
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  2. 2
    A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing

    A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing door Benjamin Kamien, Anne Ronan, Gemma Poke, Ingrid Sinnerbrink, Gareth Baynam, Michelle C. Ward, William T. Gibson, Tracy Dudding‐Byth, Rodney J. Scott

    Gepubliceerd in 2018
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  3. 3
    Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families

    Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families door Aideen M. McInerney‐Leo, Jessica Harris, Michael Gattas, Elizabeth Peach, Stephen Sinnott, Tracy Dudding‐Byth, Sulekha Rajagopalan, Christopher Barnett, Lisa K. Anderson, Lawrie Wheeler, Matthew A. Brown, Paul Leo, Carol Wicking, Emma L. Duncan

    Gepubliceerd in 2016
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  4. 4
    Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability

    Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disa... door Tracy Dudding‐Byth, Anne Baxter, Elizabeth Holliday, Anna Hackett, Sheridan O’Donnell, Susan M. White, John Attia, Han G. Brunner, Bert de Vries, David A. Koolen, Tjitske Kleefstra, Seshika Ratwatte, Carlos Riveros, Steve Brain, Brian C. Lovell

    Gepubliceerd in 2017
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  5. 5
    Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

    Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia door Jessica L. Zambonin, Allison Bellomo, Hilla Ben‐Pazi, David B. Everman, Lee M. Frazer, Michael T. Geraghty, Amy D. Harper, Julie R. Jones, Benjamin Kamien, Kristin D. Kernohan, Mary Kay Koenig, Matthew A. Lines, Elizabeth E. Palmer, Randal Richardson, Reeval Segel, Mark A. Tarnopolsky, Jason Vanstone, Melissa Gibbons, Abigail Collins, Brent L. Fogel, Tracy Dudding‐Byth, Kym M. Boycott

    Gepubliceerd in 2017
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  6. 6
    The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients

    The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients door Ngoc Minh Nguyen, Yassemine Khawajkie, Nawel Mechtouf, Maryam Rezaei, Magali Bréguet, Elvira Kurvinen, Sujatha Jagadeesh, Aslı Ece Solmaz, Mónica Aguinaga‐Ríos, Reda Hemida, Mehmet Harma, Cécile Rittore, Kurosh Rahimi, Jocelyne Arseneau, Karine Hovanes, Ronald Clisham, Tiffanee Lenzi, Bonnie Scurry, Marie‐Claude Addor, Rashmi Bagga, Genevieve Girardet Nendaz, Vildana Finci, Gemma Poke, Leslie Grimes, Nerine Gregersen, Kayla York, Pierre‐Adrien Bolze, Chirag Patel, Hossein Mozdarani, Jacques Puechberty, Jessica G. Scotchie, Majid Fardaei, Müge Harma, R. J McKinlay Gardner, Trilochan Sahoo, Tracy Dudding‐Byth, Radhika Srinivasan, Philippe Sauthier, Rima Slim

    Gepubliceerd in 2018
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  7. 7
    Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

    Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures door Slavé Petrovski, Sébastien Küry, Candace T. Myers, Kwame Anyane‐Yeboa, Benjamin Cogné, Martin G. Bialer, Fan Xia, Parisa Hemati, James J. Riviello, Michele G. Mehaffey, Thomas Besnard, Emily Becraft, Alexandrea Wadley, Anya Revah Politi, Sophie Colombo, Xiaolin Zhu, Zhong Ren, Ian Andrews, Tracy Dudding‐Byth, Amy L. Schneider, Geoffrey Wallace, Aaron B.I. Rosen, Susan Schelley, Gregory M. Enns, Pierre Corre, Joline Dalton, Sandra Mercier, Xénia Latypova, Sébastien Schmitt, Edwin R. Guzman, Christine Moore, Louise Bier, Erin L. Heinzen, Peter Karachunski, Natasha Shur, Theresa A. Grebe, Alice Basinger, Joanne Nguyen, Stéphane Bézieau, Klaas J. Wierenga, Jonathan A. Bernstein, Ingrid E. Scheffer, Jill A. Rosenfeld, Heather C. Mefford, Bertrand Isidor, David B. Goldstein

    Gepubliceerd in 2016
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  8. 8
    The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

    The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome door Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Adila Al‐Kindy, Anwar Baban, Allan Bayat, Stefanie Beck‐Wödl, Katherine Berry, Emilia K. Bijlsma, Levinus A. Bok, Alwin F.J. Brouwer, Ineke van der Burgt, Philippe M. Campeau, Natalie Canham, Krystyńa Chrzańowska, Yoyo W. Y. Chu, Brain H.Y. Chung, Karin Dahan, Marjan De Rademaeker, Anne Destrèe, Tracy Dudding‐Byth, Rachel K. Earl, Nursel Elçioğlu, Ellen Roy Elias, Christina Fagerberg, Alice Gardham, Blanca Gener, Erica H. Gerkes, Ute Grasshoff, Arie van Haeringen, Karin R. Heitink, Johanna C. Herkert, Nicolette S. den Hollander, Denise Horn, David Hunt, Sarina G. Kant, Mitsuhiro Kato, Hülya Kayserili, Rogier Kersseboom, Esra KAYA KILIÇ, Małgorzata Krajewska‐Walasek, Kylin Lammers, Lone Walentin Laulund, Damien Lederer, Melissa Lees, Vanesa López‐González, Saskia M. Maas, Grazia M.S. Mancini, Carlo Marcelis, Francisco Martı́nez, Isabelle Maystadt, Marianne McGuire, Shane McKee, Sarju Mehta, Kay Metcalfe, Jeff M. Milunsky, Seiji Mizuno, John B. Moeschler, Christian Netzer, Charlotte W. Ockeloen, Barbara Oehl‐Jaschkowitz, Nobuhiko Okamoto, Sharon N.M. Olminkhof, Carmen Orellana, Laurent Pasquier, Caroline Pottinger, Vera Riehmer, Stephen P. Robertson, Maian Roifman, Caroline Rooryck, Fabienne G. Ropers, Mónica Roselló, Claudia Ruivenkamp, Mahmut Şamil Sağıroğlu, Suzanne C.E.H. Sallevelt, A. Sanchís Calvo, Pelin Özlem Şimşek‐Kiper, Gabriela Soares, Lucia Solaeche, Fatma Müjgan Sönmez, Miranda Splitt, Duco Steenbeek, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, Saori Tanabe, Eyyüp Üçtepe, Gülen Eda Ütine, Hermine E. Veenstra‐Knol, Sunita Venkateswaran, Catheline Vilain, Catherine Vincent‐Delorme, Anneke T. Vulto‐van Silfhout, Patricia G. Wheeler, Golder N. Wilson, Louise C. Wilson, Bernd Wollnik, Tomoki Kosho, Dagmar Wieczorek

    Gepubliceerd in 2018
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