Canlyniadau Chwilio - Graeme Black

Mireinio'r Canlyniadau
  1. 1
    A mutation in the RIEG1 gene associated with Peters’ anomaly

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

    Cyhoeddwyd 1999
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    Artigo
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  2. 2
    Global birth prevalence of congenital heart defects 1970–2017: updated systematic review and meta-analysis of 260 studies

    Global birth prevalence of congenital heart defects 1970–2017: updated systematic review and meta-analysis of 260 studies gan Yingjuan Liu, Sen Chen, Liesl Zühlke, Graeme Black, Mun‐Kit Choy, Ningxiu Li, Bernard Keavney

    Cyhoeddwyd 2019
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  3. 3
    Genetic testing and diagnosis of inherited retinal diseases

    Genetic testing and diagnosis of inherited retinal diseases gan Byron L. Lam, Bart P. Leroy, Graeme Black, Tuyen Ong, Dan Yoon, Karmen M Trzupek

    Cyhoeddwyd 2021
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  4. 4
    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 gan Graeme Black, Rahat Perveen, Richard Bonshek, Mark Cahill, Jill Clayton-Smith, I. Christopher Lloyd, David McLeod

    Cyhoeddwyd 1999
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    Artigo
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  5. 5
    Alstrom syndrome (OMIM 203800): a case report and literature review

    Alstrom syndrome (OMIM 203800): a case report and literature review gan Tisha Joy, Henian Cao, Graeme Black, Rayaz A. Malik, Valentine Charlton-Menys, Robert A. Hegele, Paul N. Durrington

    Cyhoeddwyd 2007
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  6. 6
    Exploring the spectrum of 3‐M syndrome, a primordial short stature disorder of disrupted ubiquitination

    Exploring the spectrum of 3‐M syndrome, a primordial short stature disorder of disrupted ubiquitination gan Peter Clayton, Dan Hanson, Lucia Magee, Philip Murray, Emma Saunders, Sayeda N. Abu‐Amero, Gudrun E. Moore, Graeme Black

    Cyhoeddwyd 2012
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  7. 7
    An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis

    An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis gan A. S. Jun, Huan Meng, Narendrakumar Ramanan, Mario Matthaei, Shukti Chakravarti, R E Bonshek, Graeme Black, R. Grebe, Martha Kimos

    Cyhoeddwyd 2011
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    Artigo
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  8. 8
    Global prevalence of congenital heart disease in school-age children: a meta-analysis and systematic review

    Global prevalence of congenital heart disease in school-age children: a meta-analysis and systematic review gan Yingjuan Liu, Sen Chen, Liesl Zühlke, Sonya V. Babu‐Narayan, Graeme Black, Mun‐Kit Choy, Ningxiu Li, Bernard Keavney

    Cyhoeddwyd 2020
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  9. 9
    Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration

    Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration gan Thomas Julian, Johnathan Cooper‐Knock, Stuart MacGregor, Hui Guo, Tariq Aslam, Eleanor Sanderson, Graeme Black, Panagiotis I. Sergouniotis

    Cyhoeddwyd 2023
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    Artigo
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  10. 10
    Incorporation of a laminin-derived peptide (SIKVAV) on polymer-modified adenovirus permits tumor-specific targeting via α6-integrins

    Incorporation of a laminin-derived peptide (SIKVAV) on polymer-modified adenovirus permits tumor-specific targeting via α6-integrins gan Mark Stevenson, Ashley Hale, Sarah Hale, N K Green, Graeme Black, K. Fisher, Karel Ulbrich, Àngels Fabra, Leonard W. Seymour

    Cyhoeddwyd 2007
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    Artigo
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  11. 11
    <i>RPGR</i>mutation analysis and disease: an update

    <i>RPGR</i>mutation analysis and disease: an update gan Xinhua Shu, Graeme Black, Jacqueline M. Rice, Niki Hart‐Holden, Alison Jones, Anna O’Grady, Simon Ramsden, Alan F. Wright

    Cyhoeddwyd 2006
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    Artigo
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  12. 12
    Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach

    Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach gan Mahmoud Musleh, Georgina Hall, I. Christopher Lloyd, Rachel Gillespie, S. Waller, Sofia Douzgou, Jill Clayton‐Smith, Elias Kehdi, Graeme Black, Jane Ashworth

    Cyhoeddwyd 2016
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    Artigo
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  13. 13
    The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism

    The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism gan Vincent Michaud, Eulalie Lasseaux, David Green, Dave T. Gerrard, Claudio Plaisant, Tomas Fitzgerald, Ewan Birney, Benoı̂t Arveiler, Graeme Black, Panagiotis I. Sergouniotis

    Cyhoeddwyd 2022
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    Artigo
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  14. 14
    A paradigm shift in the delivery of services for diagnosis of inherited retinal disease

    A paradigm shift in the delivery of services for diagnosis of inherited retinal disease gan James O’Sullivan, Brendan G Mullaney, Sanjeev S. Bhaskar, Jonathan E. Dickerson, Georgina Hall, Anna O’Grady, Andrew R. Webster, Simon Ramsden, Graeme Black

    Cyhoeddwyd 2012
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    Artigo
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  15. 15
    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 gan 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

    Cyhoeddwyd 2015
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  16. 16
    A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy

    A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy gan Alan D. Irvine, C. M. Coleman, Jonathan E. Moore, Ole Swensson, Steven Morgan, John McCarthy, Frances J.D. Smith, Graeme Black, W.H. Irwin McLean

    Cyhoeddwyd 2002
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    Carta
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  17. 17
    Brittle cornea syndrome: recognition, molecular diagnosis and management

    Brittle cornea syndrome: recognition, molecular diagnosis and management gan Emma MM Burkitt Wright, Louise F. Porter, Helen Spencer, Jill Clayton‐Smith, Leon Au, Francis L. Munier, Sarah Smithson, Mohnish Suri, Marianne Rohrbach, Forbes D.C. Manson, Graeme Black

    Cyhoeddwyd 2013
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  18. 18
    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 gan 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

    Cyhoeddwyd 2009
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  19. 19
    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 gan 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

    Cyhoeddwyd 2003
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    Artigo
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  20. 20
    ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

    ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components gan Marianne Rohrbach, Helen Spencer, Louise F. Porter, Emma Burkitt‐Wright, Céline Bürer, Andreas Janecke, Madhura Bakshi, David Sillence, Hailah Al‐Hussain, Matthias R. Baumgartner, Beat Steinmann, Graeme Black, Forbes D.C. Manson, Cecilia Giunta

    Cyhoeddwyd 2013
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    Artigo
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