Хайлтын үр дүнгүүд - Jill Urquhart

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  1. 1
    Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract

    Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract -н Rachel Gillespie, Jill Urquhart, Beverley Anderson, Simon G. Williams, Sarah Waller, Jane Ashworth, Susmito Biswas, Simon Jones, Fiona Stewart, I. Christopher Lloyd, Jill Clayton‐Smith, Graeme Black

    Хэвлэсэн 2015
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    Revisão
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  2. 2
    The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes

    The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes -н Miriam J. Smith, Jill Urquhart, Elaine F. Harkness, Emma Miles, Naomi L. Bowers, Helen Byers, Michael Bulman, Carolyn Gokhale, Andrew Wallace, William G. Newman, D. Gareth Evans

    Хэвлэсэн 2015
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    Artigo
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  3. 3
    The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1

    The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1 -н Dan Hanson, Philip Murray, Amit Sud, Samia A. Temtamy, Mona Aglan, Andrea Superti‐Furga, Sue Holder, Jill Urquhart, Emma Hilton, Forbes D.C. Manson, Peter Scambler, Graeme Black, Peter Clayton

    Хэвлэсэн 2009
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    Artigo
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  4. 4
    Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome

    Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome -н James O’Sullivan, Carolina Cavalcante Bitu, Sarah B. Daly, Jill Urquhart, Martin Barron, Sanjeev S. Bhaskar, Hercílio Martelli‐Júnior, Pedro Eleutério dos Santos Neto, M. Adela Mansilla, Jeffrey C. Murray, Ricardo D. Coletta, Graeme Black, Michael J. Dixon

    Хэвлэсэн 2011
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    Artigo
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  5. 5
    Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth

    Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth -н Dan Hanson, Philip Murray, James O’Sullivan, Jill Urquhart, Sarah B. Daly, Sanjeev S. Bhaskar, Leslie G. Biesecker, Mars Skae, Claire E. L. Smith, Trevor Cole, Jeremy Kirk, Kate Chandler, Helen Kingston, Dian Donnai, Peter Clayton, Graeme Black

    Хэвлэсэн 2011
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    Artigo
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  6. 6
    Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71

    Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71 -н 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

    Хэвлэсэн 2010
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    Artigo
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  7. 7
    Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

    Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans -н Rosemary Burgess, I. D. Millar, Bart P. Leroy, Jill Urquhart, Ian M. Fearon, Elfrida De Baere, Peter de Nully Brown, Anthony G. Robson, Genevieve Wright, Philippe Kestelyn, Graham E. Holder, Andrew R. Webster, Forbes D.C. Manson, Graeme Black

    Хэвлэсэн 2008
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    Artigo
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  8. 8
    MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma

    MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma -н Iván Conte, Kristen D. Hadfield, Sara Barbato, Sabrina Carrella, Mariateresa Pizzo, Rajeshwari Subray Bhat, Annamaria Carissimo, Marianthi Karali, Louise F. Porter, Jill Urquhart, Sofie Hateley, James O’Sullivan, Forbes D.C. Manson, Stephan C. F. Neuhauss, Sandro Banfi, Graeme Black

    Хэвлэсэн 2015
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    Artigo
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  9. 9
    Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa

    Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa -н Alice E. Davidson, I. D. Millar, Jill Urquhart, Rosemary Burgess-Mullan, Yusrah Shweikh, Neil R. A. Parry, James O’Sullivan, Geoffrey J. Maher, Martin McKibbin, Susan M. Downes, Andrew Lotery, Samuel G. Jacobson, Peter de Nully Brown, Graeme Black, Forbes D.C. Manson

    Хэвлэсэн 2009
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    Artigo
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  10. 10
    Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

    Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria -н Mary O’Driscoll, Sarah B. Daly, Jill Urquhart, Graeme Black, Daniela T. Pilz, Knut Brockmann, Meriel McEntagart, Ghada M. H. Abdel‐Salam, Maha S. Zaki, Nicole I. Wolf, Roger L. Ladda, Susan L. Sell, Stefano D’Arrigo, Waney Squier, William B. Dobyns, John H. Livingston, Yanick J. Crow

    Хэвлэсэн 2010
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    Artigo
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  11. 11
    Mutations in <i>LZTR1</i> add to the complex heterogeneity of schwannomatosis

    Mutations in <i>LZTR1</i> add to the complex heterogeneity of schwannomatosis -н 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

    Хэвлэсэн 2014
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    Artigo
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  12. 12
    Expanding the genotypic spectrum of Perrault syndrome

    Expanding the genotypic spectrum of Perrault syndrome -н Leigh Demain, Jill Urquhart, James O’Sullivan, Simon G. Williams, Sanjeev S. Bhaskar, Emma M. Jenkinson, Charles Marques Lourenço, Arvid Heiberg, Simon H. S. Pearce, Stavit A. Shalev, Wyatt W. Yue, Sabrina MacKinnon, Kevin J. Munro, Ruth Newbury‐Ecob, Kerstin Becker, M.J. Kim, Raymond T. O. Keefe, William G. Newman

    Хэвлэсэн 2016
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    Artigo
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  13. 13
    Mutations in HPSE2 Cause Urofacial Syndrome

    Mutations in HPSE2 Cause Urofacial Syndrome -н Sarah B. Daly, Jill Urquhart, Emma Hilton, Edward A. McKenzie, Richard A. Kammerer, Malcolm Lewis, Bronwyn Kerr, Helen M. Stuart, Donnai Dian, David A. Long, Berk Burgu, Özgü Aydoğdu, Murat Derbent, Sixto García‐Miñaúr, William Reardon, Blanca Gener, Stavit A. Shalev, Rupert Smith, Adrian S. Woolf, Graeme Black, William G. Newman

    Хэвлэсэн 2010
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    Artigo
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  14. 14
    Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency

    Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency -н Siddharth Banka, Henk J. Blom, John H. Walter, Majid Aziz, Jill Urquhart, Christopher M. Clouthier, Gillian Rice, Arjan P.M. de Brouwer, Emma Hilton, Grace Vassallo, Andrew Will, Desirée E.C. Smith, Yvo M. Smulders, Ron A. Wevers, Robert Steinfeld, Simon Heales, Yanick J. Crow, Joelle N. Pelletier, Simon Jones, William G. Newman

    Хэвлэсэн 2011
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    Artigo
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  15. 15
    ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy

    ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy -н Johann Böhm, Monica Bulla, Jill Urquhart, Edoardo Malfatti, Simon G. Williams, James O’Sullivan, Anastazja Szlauer‐Stefańska, Catherine Koch, Giovanni Baranello, Marina Mora, Michela Ripolone, Raffaella Violano, Maurizio Moggio, Helen Kingston, Timothy Dawson, Christian DeGoede, John Nixon, Anne Boland, Jean‐François Deleuze, Norma B. Romero, William G. Newman, Nicolas Demaurex, Jocelyn Laporte

    Хэвлэсэн 2017
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    Artigo
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  16. 16
    Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

    Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance -н Emma M.M. Burkitt Wright, Helen Spencer, Sarah B. Daly, Forbes D.C. Manson, Leo Zeef, Jill Urquhart, Nicoletta Zoppi, R E Bonshek, Ioannis Tosounidis, Meyyammai Mohan, Colm Madden, Annabel Dodds, Kate Chandler, Siddharth Banka, Leon Au, Jill Clayton‐Smith, Naz Khan, Leslie G. Biesecker, Meredith Wilson, Marianne Rohrbach, Marina Colombi, Cecilia Giunta, Graeme Black

    Хэвлэсэн 2011
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    Artigo
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  17. 17
    Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

    Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing -н Arunabha Ghosh, Hélene Schlecht, Lesley Heptinstall, John Bassett, Eleanor Cartwright, Sanjeev S. Bhaskar, Jill Urquhart, Alexander Broomfield, Andrew A. M. Morris, Elisabeth Jameson, Bernd Schwahn, John H. Walter, Sofia Douzgou, Helen Murphy, Christian J. Hendriksz, Reena Sharma, Gisela Wilcox, Ellen Crushell, Ardeshir A. Monavari, R. J. Martin, Anne Doolan, Senthil Senniappan, Simon Ramsden, Simon Jones, Siddharth Banka

    Хэвлэсэн 2017
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    Artigo
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  18. 18
    LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome

    LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome -н Yun Li, Barbara Pawlik, Nursel Elçioğlu, Mona Aglan, Hülya Kayserili, Gökhan Yigit, E. Ferda Perçin, Frances R. Goodman, Gudrun Nürnberg, Asım Cenani, Jill Urquhart, Boi-Dinh Chung, Samira Ismail, Khalda Amr, Ayça Dilruba Aslanger, Christian Becker, Christian Netzer, Peter Scambler, Wafaa Eyaid, Hanan Hamamy, Jill Clayton‐Smith, Raoul C. M. Hennekam, Peter Nürnberg, Joachim Herz, Samia A. Temtamy, Bernd Wollnik

    Хэвлэсэн 2010
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    Artigo
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  19. 19
    Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

    Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females -н Roberto Giorda, María Clara Bonaglia, Silvana Beri, Marco Fichera, Francesca Novara, Pamela Magini, Jill Urquhart, Freddie H. Sharkey, Claudio Zucca, Rita Grasso, Susan Marelli, Lucia Castiglia, Daniela Benedetto, S Musumeci, Girolamo Aurelio Vitello, Pinella Failla, S Reitano, Emanuela Avola, Francesca Bisulli, Paolo Tinuper, Massimo Mastrangelo, Isabella Fiocchi, Luigina Spaccini, Claudia Torniero, Elena Fontana, Sally Ann Lynch, Jill Clayton‐Smith, Graeme Black, Philippe Jonveaux, Bruno Leheup, Marco Seri, Corrado Romano, Bernardo Dalla Bernardina, Orsetta Zuffardi

    Хэвлэсэн 2009
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    Artigo
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  20. 20
    LRIG2 Mutations Cause Urofacial Syndrome

    LRIG2 Mutations Cause Urofacial Syndrome -н Helen M. Stuart, Neil Roberts, Berk Burgu, Sarah B. Daly, Jill Urquhart, Sanjeev S. Bhaskar, Jonathan E. Dickerson, Murat Mermerkaya, Mesrur Selçuk Sılay, Malcolm Lewis, M. Beatriz Orive Olondriz, Blanca Gener, Christian Beetz, Rita E. Varga, Ömer Gülpınar, Cem Süer, Tarkan Soygür, Zeynep Birsin Özçakar, Fatoş Yalçınkaya, Aslı Kavaz, Burcu Bulum, Adnan Gücük, Wyatt W. Yue, Fırat Erdoğan, Andrew Berry, Neil A. Hanley, Edward A. McKenzie, Emma Hilton, Adrian S. Woolf, William G. Newman

    Хэвлэсэн 2013
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    Artigo
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