Rezultaty - Michael Oldridge

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  1. 1
    Genotype-phenotype correlation for nucleotide substitutions in the IgII- IgIII linker of FGFR2

    Genotype-phenotype correlation for nucleotide substitutions in the IgII- IgIII linker of FGFR2 od Michael Oldridge

    Wydane 1997
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  2. 2
    The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome

    The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome od Judith Cossins, Weiwei Liu, Katsiaryna Belaya, Susan Maxwell, Michael Oldridge, Tracy Lester, S. Robb, David Beeson

    Wydane 2012
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  3. 3
    Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome

    Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome od Michael Bowman, Michael Oldridge, Caroline N. S. Archer, A O'Rourke, Joanna McParland, Roel Brekelmans, A Seller, Tracy Lester

    Wydane 2012
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  4. 4
    Missense Mutations in the Homeodomain of HOXD13 Are Associated with Brachydactyly Types D and E

    Missense Mutations in the Homeodomain of HOXD13 Are Associated with Brachydactyly Types D and E od David Johnson, Shih‐hsin Kan, Michael Oldridge, Richard C. Trembath, Philippe Roche, Robert Esnouf, Henk Giele, Andrew O.M. Wilkie

    Wydane 2003
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  5. 5
    Potential Gene Conversion and Source Genes for Recently Integrated Alu Elements

    Potential Gene Conversion and Source Genes for Recently Integrated Alu Elements od Astrid M. Roy, Marion L. Carroll, Son Nguyen, Abdel Halim Salem, Michael Oldridge, Andrew O.M. Wilkie, Mark A. Batzer, Prescott L. Deininger

    Wydane 2000
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  6. 6
    Distinct Mutations in the Receptor Tyrosine Kinase Gene ROR2 Cause Brachydactyly Type B

    Distinct Mutations in the Receptor Tyrosine Kinase Gene ROR2 Cause Brachydactyly Type B od Georg C. Schwabe, Sigrid Tinschert, Christian Buschow, Peter Meinecke, G. Wolff, Gabriele Gillessen-Kaesbach, Michael Oldridge, Andrew O.M. Wilkie, Reyhan Kömec, Stefan Mundlos

    Wydane 2000
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  7. 7
    Paternal Origin of FGFR2 Mutations in Sporadic Cases of Crouzon Syndrome and Pfeiffer Syndrome

    Paternal Origin of FGFR2 Mutations in Sporadic Cases of Crouzon Syndrome and Pfeiffer Syndrome od Rivka L. Glaser, Wen G. Jiang, Simeon A. Boyadjiev, A.K. Tran, Andrea A. Zachary, Lionel Van Maldergem, David Johnson, Sinéad Walsh, Michael Oldridge, Steven A. Wall, Andrew O.M. Wilkie, Ethylin Wang Jabs

    Wydane 2000
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  8. 8
    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 od 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

    Wydane 1998
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  9. 9
    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 od 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

    Wydane 1999
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