检索结果 - Alan Fryer

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  1. 1
    On the incidence of fits and mental retardation in tuberous sclerosis.

    On the incidence of fits and mental retardation in tuberous sclerosis. 由 David Webb, Alan Fryer, J P Osborne

    出版 1991
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  2. 2
    The GAP-Related Domain of Tuberin, the Product of the TSC2 Gene, is a Target for Missense Mutations in Tuberous Sclerosis

    The GAP-Related Domain of Tuberin, the Product of the TSC2 Gene, is a Target for Missense Mutations in Tuberous Sclerosis 由 Magitha M. Maheshwar, Jeremy P. Cheadle, Adriane C. Jones, J Myring, Alan Fryer, Peter C. Harris, Julian R. Sampson

    出版 1997
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  3. 3
    Mutations in the chromatin-associated protein ATRX

    Mutations in the chromatin-associated protein ATRX 由 Richard J. Gibbons, Takahito Wada, Christopher A. Fisher, N Malik, Matthew Mitson, David P. Steensma, Alan Fryer, David Goudie, Ian D. Krantz, Joanne Traeger‐Synodinos

    出版 2008
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  4. 4
    De novo, heterozygous, loss‐of‐function mutations in <i>SYNGAP1</i> cause a syndromic form of intellectual disability

    De novo, heterozygous, loss‐of‐function mutations in <i>SYNGAP1</i> cause a syndromic form of intellectual disability 由 Michael Parker, Alan Fryer, Deborah Shears, Katherine Lachlan, Shane McKee, Alex Magee, Shehla Mohammed, Pradeep Vasudevan, Soo‐Mi Park, Valérie Benoît, Damien Lederer, Isabelle Maystadt, DDD Study, David Fitzpatrick

    出版 2015
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  5. 5
    Autism, language and communication in children with sex chromosome trisomies

    Autism, language and communication in children with sex chromosome trisomies 由 Dorothy Bishop, P. A. Jacobs, Katherine Lachlan, Diana Wellesley, Angela Barnicoat, Patricia A. Boyd, Alan Fryer, Prisca Middlemiss, Sarah Smithson, K Metcalfe, D. Shears, Victoria Leggett, Kate Nation, Gaia Scerif

    出版 2010
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  6. 6
    Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals

    Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals 由 Mira Kharbanda, Daniela T. Pilz, Susan Tomkins, Kate Chandler, Anand Saggar, Alan Fryer, Victoria McKay, Pedro Louro, Jill Smith, John Burn, Usha Kini, Anna de Burca, David Fitzpatrick, Esther Kinning

    出版 2016
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  7. 7
    A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

    A novel recurrent mutation in ATP1A3 causes CAPOS syndrome 由 Michelle Demos, Clara DM van Karnebeek, Colin J.D. Ross, Shelin Adam, Yaoqing Shen, Shing H. Zhan, Casper Shyr, Gabriella Horváth, Mohnish Suri, Alan Fryer, Steven J.M. Jones, Jan M. Friedman

    出版 2014
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  8. 8
    Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators

    Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators 由 Gaia Gestri, Robert J. Osborne, Alexander W. Wyatt, Dianne Gerrelli, Susan Gribble, Helen Stewart, Alan Fryer, David J. Bunyan, Katrina Prescott, J. R. O. Collin, Tomas Fitzgerald, David Robinson, Nigel P. Carter, Stephen W. Wilson, Nicola Ragge

    出版 2009
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  9. 9
    Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study

    Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study 由 Oliver Quarrell, Alan S. Rigby, L Barron, Yanick J. Crow, A. Dalton, N R Dennis, Alan Fryer, Frances Heydon, Esther Kinning, Alison Lashwood, Monique Losekoot, L Margerison, Shannon K. McDonnell, Patrick J. Morrison, Andrew Norman, Michael Peterson, F. Lucy Raymond, Sharon Simpson, Elizabeth Thompson, Jon Warner

    出版 2006
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  10. 10
    Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27

    Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27 由 Holly Duncan Craig, Murat Günel, Obed M. Cepeda, Eric W. Johnson, Louis J. Ptáček, Gary K. Steinberg, Christopher S. Ogilvy, Michel J. Berg, Steve Crawford, R. Michael Scott, Elisabeth Steichen‐Gersdorf, R.A. Sabroe, Claire Kennedy, Gabrielle Mettler, M Beis, Alan Fryer, Issam A. Awad, Richard P. Lifton

    出版 1998
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  11. 11
    IQ at 6 years after in utero exposure to antiepileptic drugs

    IQ at 6 years after in utero exposure to antiepileptic drugs 由 Gus A. Baker, Rebecca Bromley, Maria Briggs, Christopher P. Cheyne, Morris J. Cohen, Marta García‐Fiñana, Alison Gummery, Rachel Kneen, David W. Loring, George Mawer, Kimford J. Meador, Rebekah Shallcross, Jill Clayton‐Smith, C. Barrie, John R. Beech, Alison Booth, Pete Dixon, Alan Fryer, Loretta Kerr

    出版 2014
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  12. 12
    Mutations in <i>LZTR1</i> add to the complex heterogeneity of schwannomatosis

    Mutations in <i>LZTR1</i> add to the complex heterogeneity of schwannomatosis 由 Miriam J. Smith, B. Isidor, Christian Beetz, Simon G. Williams, Sanjeev S. Bhaskar, Wilfrid Richer, James O’Sullivan, Beverly Anderson, Sarah B. Daly, Jill Urquhart, Alan Fryer, Cecilie F. Rustad, Samantha J. Mills, Amir Samii, Daniel du Plessis, Dorothy Halliday, S. Barbarot, Franck Bourdeaut, William G. Newman, D. Gareth Evans

    出版 2014
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  13. 13
    Nicolaides–Baraitser syndrome: Delineation of the phenotype

    Nicolaides–Baraitser syndrome: Delineation of the phenotype 由 Sérgio B. Sousa, Omar Abdul‐Rahman, Armand Bottani, Valérie Cormier‐Daire, Alan Fryer, Gabriele Gillessen‐Kaesbach, Denise Horn, Dragana Josifova, Alma Kuechler, Melissa Lees, Kay MacDermot, Alex Magee, Fanny Morice‐Picard, Elizabeth C. Rosser, Ajoy Sarkar, Nora Shannon, Irene Stolte‐Dijkstra, Alain Verloès, Emma Wakeling, Louise C. Wilson, Raoul C. M. Hennekam

    出版 2009
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  14. 14
    Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

    Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients 由 Christiane Zweier, Heinrich Sticht, Emilia K. Bijlsma, Jill Clayton‐Smith, Susanne E. Boonen, Alan Fryer, Marie T. Greally, Ling Hoffmann, Nicolette S. den Hollander, Marjolijn C.J. Jongmans, Sarina G. Kant, Matthew King, Sally Ann Lynch, Shane McKee, Alina T. Midro, Park Sm, Valeria Ricotti, E Tarantino, M.W. Wessels, Maarit Peippo, Anita Rauch

    出版 2008
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  15. 15
    The prevalence of neurodevelopmental disorders in children prenatally exposed to antiepileptic drugs

    The prevalence of neurodevelopmental disorders in children prenatally exposed to antiepileptic drugs 由 Rebecca Bromley, G. E. Mawer, Michelle Briggs, Christopher P. Cheyne, Jill Clayton‐Smith, Marta García‐Fiñana, Rachel Kneen, S. B. Lucas, Rebekah Shallcross, Gus A. Baker, Gus A. Baker, Michelle Briggs, Rebecca Bromley, Jill Clayton‐Smith, Pete Dixon, Alan Fryer, Alison Gummery, Rachel Kneen, Lydia Kerr, S. B. Lucas, G. E. Mawer, Rebekah Shallcross

    出版 2013
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  16. 16
    Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

    Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome 由 Jill Clayton‐Smith, James O’Sullivan, Sarah B. Daly, Sanjeev S. Bhaskar, Ruth Day, Beverley Anderson, Anne K. Voss, Tim Thomas, Leslie G. Biesecker, Philip Smith, Alan Fryer, Kate Chandler, Bronwyn Kerr, May Tassabehji, Sally Ann Lynch, Małgorzata Krajewska‐Walasek, Shane McKee, Janine Smith, Elizabeth Sweeney, Sahar Mansour, Shehla Mohammed, Dian Donnai, Graeme Black

    出版 2011
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  17. 17
    A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

    A molecular and clinical study of Larsen syndrome caused by mutations in FLNB 由 Louise S. Bicknell, Claire Farrington‐Rock, Yousef Shafeghati, Patrick Rump, Yasemin Alanay, Yves Alembik, Navid Almadani, Helen V. Firth, Mohamad Hasan Kariminejad, Chong Ae Kim, Kathryn Leask, Melissa K. Maisenbacher, Ellen Moran, John Pappas, Paolo Prontera, Thomy de Ravel, J. P. Fryns, Elizabeth Sweeney, Alan Fryer, Sheila Unger, Louise C. Wilson, Ralph S. Lachman, David L. Rimoin, Daniel H. Cohn, Deborah Krakow, Stephen P. Robertson

    出版 2006
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  18. 18
    Noncoding copy-number variations are associated with congenital limb malformation

    Noncoding copy-number variations are associated with congenital limb malformation 由 Ricarda Flöttmann, Bjørt K. Kragesteen, Sinje Geuer, Magdalena Socha, Lila Allou, Anna Sowińska‐Seidler, Laure Bosquillon de Jarcy, Johannes Maximilian Wagner, Aleksander Jamsheer, Barbara Oehl‐Jaschkowitz, Lars Wittler, Deepthi De Silva, Ingo Kurth, Idit Maya, Fernando Santos‐Simarro, Wiebke Hülsemann, Eva Klopocki, Roger Mountford, Alan Fryer, Guntram Borck, Denise Horn, Pablo Lapunzina, Meredith Wilson, Bénédicte Mascrez, Denis Duboule, Stefan Mundlos, Malte Spielmann

    出版 2017
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  19. 19
    The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

    The phenotype of Sotos syndrome in adulthood: A review of 44 individuals 由 Alison Foster, Anna Zachariou, Chey Loveday, Tazeen Ashraf, Edward Blair, Jill Clayton‐Smith, Huw Dorkins, Alan Fryer, Blanca Gener, David Goudie, Alex Henderson, Melita Irving, Shelagh Joss, Vaughan Keeley, Nayana Lahiri, Sally Ann Lynch, Sahar Mansour, Emma McCann, Jenny Morton, Nicole Motton, Alexandra Murray, Katie Riches, Deborah Shears, Zornitza Stark, Elizabeth Thompson, Julie Vogt, Michael Wright, Trevor Cole, Katrina Tatton‐Brown

    出版 2019
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  20. 20
    Clinical and genetic aspects of KBG syndrome

    Clinical and genetic aspects of KBG syndrome 由 Karen Low, Tazeen Ashraf, Natalie Canham, Jill Clayton‐Smith, Charu Deshpande, Alan Donaldson, Richard Fisher, Frances Flinter, Nicola Foulds, Alan Fryer, Kate Gibson, Ian Hayes, Alison Hills, Susan Holder, Melita Irving, Shelagh Joss, Emma Kivuva, Katherine Lachlan, Alex Magee, Vivienne McConnell, Meriel McEntagart, Kay Metcalfe, Tara Montgomery, Ruth Newbury‐Ecob, Fiona Stewart, Peter D. Turnpenny, Julie Vogt, David Fitzpatrick, Maggie Williams, Sarah Smithson

    出版 2016
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