检索结果 - Stephen R.F. Twigg

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  1. 1
    Fibrosis in diabetes complications: Pathogenic mechanisms and circulating and urinary markers

    Fibrosis in diabetes complications: Pathogenic mechanisms and circulating and urinary markers 由 Stephen R.F. Twigg

    出版 2008
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  2. 2
    A Genetic-Pathophysiological Framework for Craniosynostosis

    A Genetic-Pathophysiological Framework for Craniosynostosis 由 Stephen R.F. Twigg, Andrew O.M. Wilkie

    出版 2015
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  3. 3
    New insights into craniofacial malformations

    New insights into craniofacial malformations 由 Stephen R.F. Twigg, Andrew O.M. Wilkie

    出版 2015
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  4. 4
    Hearing loss in a mouse model of Muenke syndrome

    Hearing loss in a mouse model of Muenke syndrome 由 Suzanne L. Mansour, Stephen R.F. Twigg, Rowena M. Freeland, Steven A. Wall, Zesong Li, Andrew O.M. Wilkie

    出版 2008
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  5. 5
    Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

    Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications 由 Andy Rimmer, Hang Phan, Iain Mathieson, Zamin Iqbal, Stephen R.F. Twigg, Andrew O.M. Wilkie, Gil McVean, Gerton Lunter

    出版 2014
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  6. 6
    Skeletal analysis of the <i>Fgfr3</i><sup><i>P244R</i></sup> mouse, a genetic model for the Muenke craniosynostosis syndrome

    Skeletal analysis of the <i>Fgfr3</i><sup><i>P244R</i></sup> mouse, a genetic model for the Muenke craniosynostosis syndrome 由 Stephen R.F. Twigg, Chris Healy, Christian Babbs, Jacqueline A. Sharpe, W. G. Wood, Paul T. Sharpe, Gillian Morriss‐Kay, Andrew O.M. Wilkie

    出版 2008
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  7. 7
    Mutations of ephrin-B1 (<i>EFNB1</i>), a marker of tissue boundary formation, cause craniofrontonasal syndrome

    Mutations of ephrin-B1 (<i>EFNB1</i>), a marker of tissue boundary formation, cause craniofrontonasal syndrome 由 Stephen R.F. Twigg, Rui Kan, Christian Babbs, Elena G. Bochukova, Stephen P. Robertson, Steven A. Wall, Gillian Morriss‐Kay, Andrew O.M. Wilkie

    出版 2004
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  8. 8
    Prevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis

    Prevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis 由 Andrew O.M. Wilkie, Jo C. Byren, Jane A. Hurst, Jayaratnam Jayamohan, David Johnson, Samantha J.L. Knight, Tracy Lester, Peter G. Richards, Stephen R.F. Twigg, Steven A. Wall

    出版 2010
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  9. 9
    Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1

    Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1 由 Marijke E.P. van den Elzen, Stephen R.F. Twigg, Jacqueline A.C. Goos, A. Jeannette M. Hoogeboom, A.M.W. van den Ouweland, Andrew O.M. Wilkie, Irene M.J. Mathijssen

    出版 2013
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  10. 10
    Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

    Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates 由 Katsiaryna Belaya, Sarah Finlayson, Clarke R. Slater, Judith Cossins, Weiwei Liu, Susan Maxwell, Simon J. McGowan, Siarhei Maslau, Stephen R.F. Twigg, Timothy J. Walls, Samuel Ignacio Pascual Pascual, Jacqueline Palace, David Beeson

    出版 2012
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  11. 11
    New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving<i>TWIST1</i>regulatory elements

    New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving<i>TWIST1</i>regulatory elements 由 Vanessa Luiza Romanelli Tavares, Sofia Ligia Guimarães-Ramos, Yan Zhou, Cibele Masotti, Suzana Ezquina, Danielle de Paula Moreira, Henk P.J. Buermans, Renato S Freitas, Johan T. den Dunnen, Stephen R.F. Twigg, Maria Rita Passos‐Bueno

    出版 2021
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  12. 12
    A Comprehensive Screen for TWIST Mutations in Patients with Craniosynostosis Identifies a New Microdeletion Syndrome of Chromosome Band 7p21.1

    A Comprehensive Screen for TWIST Mutations in Patients with Craniosynostosis Identifies a New Microdeletion Syndrome of Chromosome Band 7p21.1 由 David Johnson, Sharon W. Horsley, Dominique M. Moloney, Michael Oldridge, Stephen R.F. Twigg, Sinéad Walsh, Margaret Barrow, Pål R. Njølstad, Jürgen Kunz, Geraldine J. Ashworth, Steven A. Wall, Robert E. Kearney, Andrew O.M. Wilkie

    出版 1998
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  13. 13
    BCL11B-related disease: a single phenotypic entity?

    BCL11B-related disease: a single phenotypic entity? 由 Juliana Heather Vedovato dos Santos, Rebecca S Tooze, Sivagamy Sithambaram, Emma McCann, Yasemin Alanay, Özlem Doğan, Meltem Kilercik, Ayşen Bingöl, M. Memet Özek, David H. Johnson, Christoffer Nellåker, Andrew O.M. Wilkie, Stephen R.F. Twigg

    出版 2025
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  14. 14
    De Novo Alu-Element Insertions in FGFR2 Identify a Distinct Pathological Basis for Apert Syndrome

    De Novo Alu-Element Insertions in FGFR2 Identify a Distinct Pathological Basis for Apert Syndrome 由 Michael Oldridge, Elaine H. Zackai, Donna M. McDonald‐McGinn, Sachiko Iseki, Gillian Morriss‐Kay, Stephen R.F. Twigg, David Johnson, Steven A. Wall, Wen G. Jiang, Christiane Theda, Ethylin Wang Jabs, Andrew O.M. Wilkie

    出版 1999
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  15. 15
    The developing mouse coronal suture at single-cell resolution

    The developing mouse coronal suture at single-cell resolution 由 D’Juan T. Farmer, Hana Mlčochová, Yan Zhou, Nils Koelling, Guanlin Wang, Neil Ashley, Helena Bugacov, Hung-Jhen Chen, Riana K. Parvez, Kuo-Chang Tseng, Amy E. Merrill, Robert E. Maxson, Andrew O.M. Wilkie, J. Gage Crump, Stephen R.F. Twigg

    出版 2021
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  16. 16
    Selective loss of function variants in <i>IL6ST</i> cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function

    Selective loss of function variants in <i>IL6ST</i> cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function 由 Tala Shahin, Dominik Aschenbrenner, Deniz Çağdaş, Sevgi Köstel Bal, Cecilia Domínguez Conde, Wojciech Garncarz, Dávid Medgyesi, Tobias Schwerd, Betül Karaatmaca, Pınar Gür Çetinkaya, Saliha Esenboğa, Stephen R.F. Twigg, Andrew J. Cant, Andrew O.M. Wilkie, İlhan Tezcan, Holm H. Uhlig, Kaan Boztuğ

    出版 2018
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  17. 17
    Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene

    Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene 由 Stephen R.F. Twigg, Sarah L. Versnel, Gudrun Nürnberg, Melissa Lees, Meenakshi Bhat, Peter Hammond, Raoul C. M. Hennekam, A. Jeannette M. Hoogeboom, Jane A. Hurst, David H. Johnson, Alexis Robinson, Peter Scambler, Dianne Gerrelli, Peter Nürnberg, Irene M.J. Mathijssen, Andrew O.M. Wilkie

    出版 2009
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  18. 18
    Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis

    Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis 由 Shih‐hsin Kan, Navaratnam Elanko, David Johnson, Laura R. Cornejo-Roldan, Jackie Cook, Elsa Reich, Susan Tomkins, Alain Verloès, Stephen R.F. Twigg, Sahan V. Rannan‐Eliya, Donna M. McDonald‐McGinn, Elaine H. Zackai, Steven A. Wall, Maximilian Muenke, Andrew O.M. Wilkie

    出版 2002
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  19. 19
    Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization

    Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization 由 Stephen R.F. Twigg, Deborah Lloyd, Dagan Jenkins, Nursel E. Elçioglu, C.D.O. Cooper, Nouriya Al‐Sannaa, Alı Annagür, Gabriele Gillessen‐Kaesbach, Irina Hüning, Samantha J.L. Knight, Judith A. Goodship, Bernard Keavney, Philip L. Beales, O. Gileadi, Simon J. McGowan, Andrew O.M. Wilkie

    出版 2012
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  20. 20
    Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

    Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans 由 Stephen P. Robertson, Stephen R.F. Twigg, Andrew J. Sutherland‐Smith, Valérie Biancalana, Robert J. Gorlin, Denise Horn, Susan Kenwrick, Chong Ae Kim, Éva Morava, Ruth Newbury‐Ecob, Karen Helene Ørstavik, Oliver Quarrell, Charles E. Schwartz, Deborah Shears, Mohnish Suri, John Kendrick‐Jones, Andrew O.M. Wilkie

    出版 2003
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