Sökresultat - Tracy Dudding

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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 av Cheryl Shoubridge, Victoria L. Harvey, Tracy Dudding‐Byth

    Publicerad 2018
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  2. 2
    Factor V Leiden is associated with pre-eclampsia but not with fetal growth restriction: a genetic association study and meta-analysis

    Factor V Leiden is associated with pre-eclampsia but not with fetal growth restriction: a genetic association study and meta-analysis av Tracy Dudding, Jon Heron, A Thakkinstian, Eha Nurk, Jean Golding, M Pembrey, Susan M. Ring, John Attia, Rodney J. Scott

    Publicerad 2008
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  3. 3
    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 av Benjamin Kamien, Anne Ronan, Gemma Poke, Ingrid Sinnerbrink, Gareth Baynam, Michelle C. Ward, William T. Gibson, Tracy Dudding‐Byth, Rodney J. Scott

    Publicerad 2018
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  4. 4
    A randomized controlled trial of a decision aid for women considering genetic testing for breast and ovarian cancer risk

    A randomized controlled trial of a decision aid for women considering genetic testing for breast and ovarian cancer risk av Claire E. Wakefield, Bettina Meiser, Judi Homewood, Michelle Peate, Alan Taylor, Elizabeth Lobb, Judy Kirk, Mary‐Anne Young, Rachel Williams, Tracy Dudding, Kathy Tucker

    Publicerad 2007
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  5. 5
    Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

    Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia av Lijia Huang, Jodi Warman‐Chardon, Melissa T. Carter, K. Friend, Tracy Dudding, Jeremy Schwartzentruber, Ruobing Zou, Peter W. Schofield, Stuart Douglas, Dennis E. Bulman, Kym M. Boycott

    Publicerad 2012
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  6. 6
    Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families

    Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families av 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

    Publicerad 2016
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  7. 7
    Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes

    Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes av Renske Oegema, Thomas D. Cushion, Ian G. Phelps, Seo‐Kyung Chung, Jennifer C. Dempsey, Sarah Collins, Jonathan G.L. Mullins, Tracy Dudding, Harinder Gill, Andrew Green, William B. Dobyns, Gisele E. Ishak, Mark I. Rees, Dan Doherty

    Publicerad 2015
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  8. 8
    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... av 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

    Publicerad 2017
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  9. 9
    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 av 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

    Publicerad 2017
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  10. 10
    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 av 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

    Publicerad 2018
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  11. 11
    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 av 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

    Publicerad 2016
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  12. 12
    Homologous recombination DNA repair defects in PALB2-associated breast cancers

    Homologous recombination DNA repair defects in PALB2-associated breast cancers av Anqi Li, Felipe C. Geyer, Pedro Blecua, Ju Youn Lee, Pier Selenica, David Brown, Fresia Pareja, Simon S. K. Lee, Rahul Kumar, Bárbara Rivera, Rui Bi, Salvatore Piscuoglio, Hannah Y. Wen, John R. Lozada, Rodrigo Gularte‐Mérida, Luca Cavallone, Zoulikha Rezoug, Tú Nguyen‐Dumont, Paolo Peterlongo, Carlo Tondini, Thorkild Terkelsen, Karina Rønlund, Susanne E. Boonen, Arto Mannerma, Robert Winqvist, Markéta Janatová, Pathmanathan Rajadurai, Bing Xia, Larry Norton, Mark E. Robson, Pei-Sze Ng, Lai‐Meng Looi, Melissa C. Southey, Britta Weigelt, Teo Soo-Hwang, Marc Tischkowitz, William D. Foulkes, Jorge S. Reis‐Filho, Morteza Aghmesheh, David J. Amor, Leslie Andrews, Yoland Antill, Rosemary L. Balleine, Jonathan Beesley, Anneke C. Blackburn, Michael Bogwitz, Matthew A. Brown, Matthew Burgess, Jo Burke, Phyllis Butow, Liz Caldon, Ian Campbell, Alice Christian, Christine L. Clarke, Paul A. Cohen, Ashley Crook, James Cui, Margaret C. Cummings, Sarah‐Jane Dawson, Anna de Fazio, Martin B. Delatycki, Alexander Dobrovic, Tracy Dudding, Pascal H. G. Duijf, Edward Edkins, Stacey L. Edwards, Gelareh Farshid, Andrew Fellows, Michael Field, James M. Flanagan, Peter C.C. Fong, John Forbes, Laura Forrest, Stephen B. Fox, Juliet D. French, Michael Friedlander, David Gallego‐Ortega, Michael Gattas, Graham G. Giles, Grantley Gill, Margaret Gleeson, Sian Greening, Eric Haan, Marion Harris, Nicholas K. Hayward, Ian B. Hickie, John L. Hopper, Clare Hunt, Paul A. James, Mark A. Jenkins, Richard Kefford, Maira Kentwell, Judy Kirk, James Kollias, Sunil R. Lakhani, Geoffrey J. Lindeman, Lara Lipton, Lizz Lobb, Sheau Wen Lok, Finlay Macrea

    Publicerad 2019
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  13. 13
    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 av 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

    Publicerad 2018
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