檢索結果 - Rahat Perveen

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  1. 1
    A mutation in the RIEG1 gene associated with Peters’ anomaly

    A mutation in the RIEG1 gene associated with Peters’ anomaly 由 W Doward, Rahat Perveen, I. Christopher Lloyd, A E Ridgway, Laura C. Wilson, Graeme Black

    出版 1999
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  2. 2
    Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis

    Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis 由 Graeme Black, Rahat Perveen, Richard Bonshek, Mark Cahill, Jill Clayton-Smith, I. Christopher Lloyd, David McLeod

    出版 1999
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  3. 3
    Impaired Binding of the Age-related Macular Degeneration-associated Complement Factor H 402H Allotype to Bruch's Membrane in Human Retina

    Impaired Binding of the Age-related Macular Degeneration-associated Complement Factor H 402H Allotype to Bruch's Membrane in Human Retina 由 Simon J. Clark, Rahat Perveen, Svetlana Hakobyan, B. Paul Morgan, Robert B. Sim, Paul N. Bishop, Anthony J. Day

    出版 2010
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  4. 4
    Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

    Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport 由 Juha Kolehmainen, Graeme Black, Anne Saarinen, Kate Chandler, Jill Clayton‐Smith, Ann‐Liz Träskelin, Rahat Perveen, Satu Kivitie‐Kallio, Reijo Norio, Mette Warburg, Jean‐Pierre Fryns, Albert de la Chapelle, Anna‐Elina Lehesjoki

    出版 2003
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  5. 5
    Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71

    Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71 由 Darryl Nishimura, Lisa M. Baye, Rahat Perveen, Charles Searby, Almudena Ávila‐Fernández, Inés Pereiro, Carmen Ayuso, Diana Valverde, Paul N. Bishop, Forbes D.C. Manson, Jill Urquhart, Edwin M. Stone, Diane C. Slusarski, Graeme Black, Val C. Sheffield

    出版 2010
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  6. 6
    Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR

    Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR 由 David Ng, Nalin Thakker, Connie M. Corcoran, Dian Donnai, Rahat Perveen, Adele Schneider, Donald W. Hadley, Cynthia J. Tifft, Liqun Zhang, Andrew O.M. Wilkie, Jasper J. van der Smagt, Robert J. Gorlin, Shawn M. Burgess, Vivian J. Bardwell, Graeme Black, Leslie G. Biesecker

    出版 2004
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  7. 7
    Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease

    Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease 由 Jamie M. Ellingford, Stephanie Barton, Sanjeev S. Bhaskar, Simon G. Williams, Panagiotis I. Sergouniotis, James O’Sullivan, Janine A. Lamb, Rahat Perveen, Georgina Hall, William G. Newman, Paul N. Bishop, Stephen A. Roberts, Rick Leach, Rick Tearle, S. C. Bayliss, Simon Ramsden, Andrea H. Németh, Graeme Black

    出版 2016
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  8. 8
    Mutations in<i>SIPA1L3</i>cause eye defects through disruption of cell polarity and cytoskeleton organization

    Mutations in<i>SIPA1L3</i>cause eye defects through disruption of cell polarity and cytoskeleton organization 由 Rebecca Greenlees, Marija Mihelec, Saira Yousoof, Daniel Speidel, Selwin K. Wu, Silke Rinkwitz, Ivan Prokudin, Rahat Perveen, Anson Cheng, Alan Ma, Benjamin M. Nash, Rachel Gillespie, David A.F. Loebel, Jill Clayton‐Smith, I. Christopher Lloyd, John Grigg, Patrick Tam, Alpha S. Yap, Thomas Becker, Graeme Black, Elena V. Semina, Robyn V. Jamieson

    出版 2015
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  9. 9
    BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

    BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects 由 Emma Hilton, Jennifer J. Johnston, Sandra Whalen, Nobuhiko Okamoto, Yoshikazu Hatsukawa, Juntaro NISHIO, Hiroshi Kohara, Yoshiko Hirano, Seiji Mizuno, Chiharu Torii, Kenjiro Kosaki, Sylvie Manouvrier, Odile Boute, Rahat Perveen, Caroline Law, Anthony T. Moore, David Fitzpatrick, Johannes R. Lemke, Florence Fellmann, François‐Guillaume Debray, Florence Dastot-Le-Moal, Marion Gérard, Josiane Martin, Pierre Bitoun, Michel Goossens, Alain Verloès, Albert Schinzel, Deborah Bartholdi, Tanya Bardakjian, Beverly N. Hay, Kim Jenny, Kathreen Johnston, Michael J. Lyons, John W. Belmont, Leslie G. Biesecker, Irina Giurgea, Graeme Black

    出版 2009
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  10. 10
    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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