檢索結果 - Bronwyn Kerr

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  1. 1
    Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

    Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases 由 Bronwyn Kerr

    出版 2005
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  2. 2
    Fetal valproate syndrome and autism: additional evidence of an association

    Fetal valproate syndrome and autism: additional evidence of an association 由 Gail Williams, John King, Michael L. Cunningham, Mark Stephan, Bronwyn Kerr, Joseph H. Hersh

    出版 2001
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  3. 3
    Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/<scp>MAPK</scp> pathway

    Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/<scp>MAPK</scp> pathway 由 Shruti Garg, Ami Brooks, Amy Burns, Emma Burkitt‐Wright, Bronwyn Kerr, Susan Huson, Richard Emsley, Jonathan Green

    出版 2017
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  4. 4
    Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements

    Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Ab... 由 Irena Vrečar, Josie Innes, Elizabeth A. Jones, Helen Kingston, William Reardon, Bronwyn Kerr, Jill Clayton‐Smith, Sofia Douzgou

    出版 2017
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  5. 5
    Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

    Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. 由 David Mowat, Geoffrey David Hain Croaker, Daniel T. Cass, Bronwyn Kerr, Jeffrey Chaitow, Lesley C. Adès, Nicole Chia, Meredith Wilson

    出版 1998
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  6. 6
    SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

    SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype 由 Gillian Spurlock, Ellen Bennett, Nadia Chuzhanova, N S Thomas, H-P. Jim, Lucy Side, Sophie Davies, Eric Haan, Bronwyn Kerr, Susan Huson, Meena Upadhyaya

    出版 2009
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  7. 7
    Women's attitudes toward preventive strategies for hereditary breast or ovarian carcinoma differ from one country to another

    Women's attitudes toward preventive strategies for hereditary breast or ovarian carcinoma differ from one country to another 由 Claire M. Julian-Reynier, Louise Bouchard, D. Gareth Evans, Fran�ois A. Eisinger, William D. Foulkes, Bronwyn Kerr, Ingeborg R. Blancquaert, Jean‐Paul Moatti, Hagay Sobol

    出版 2001
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  8. 8
    Cardio‐facio‐cutaneous syndrome: Does genotype predict phenotype?

    Cardio‐facio‐cutaneous syndrome: Does genotype predict phenotype? 由 Judith Allanson, Göran Annerén, Yoki Aoki, Christine M. Armour, Marie‐Louise Bondeson, Hélène Cavé, Karen W. Gripp, Bronwyn Kerr, Anna‐Maja Nyström, Katia Sol‐Church, Alain Verloès, Martin Zenker

    出版 2011
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  9. 9
    A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN

    A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN 由 Katarina Lehmann, Petra Seemann, Fatma Sılan, Timm O. Goecke, S. Irgang, Klaus Kjaer, Søren K. Kjærgaard, M J Mahoney, Susanne Morlot, Carsten Reißner, Bronwyn Kerr, Andrew O.M. Wilkie, Stefan Mundlos

    出版 2007
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  10. 10
    DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes

    DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes 由 Griffiths, Pam, Strong, Kate, Gardner, Sara, Day, Ruth, Harrison, Caroline, Bronwyn, Kerr, Metcalfe, Kay, Brunner, Han, Donnai, Dian, Dallapiccola, Bruno, Devriendt, Koenraad, Krajewska-Walasek, Malgorzata, Philip, Nicole, Clayton-Smith, Jill

    出版 2010
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  11. 11
    <i>FGFR1</i>mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

    <i>FGFR1</i>mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly 由 Nicolas Simonis, Isabelle Migeotte, Nelle Lambert, Camille Perazzolo, Deepthi C. de Silva, Boyan Dimitrov, Claudine Heinrichs, Sandra Janssens, Bronwyn Kerr, Geert Mortier, Guy Van Vliet, Philippe Lepage, Georges Casimir, Marc Abramowicz, Guillaume Smits, Catheline Vilain

    出版 2013
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  12. 12
    TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

    TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families 由 Elena Andreucci, Salim Aftimos, M.B. Alcausin, Eric Haan, Warwick Hunter, Pekka Kannus, Bronwyn Kerr, George McGillivray, RJ McKinlay Gardner, Maria Grazia Patricelli, David Sillence, Elizabeth Thompson, Margaret Zacharin, Andreas Zankl, Shireen R. Lamandé, Ravi Savarirayan

    出版 2011
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  13. 13
    Further delineation of the phenotype associated with heterozygous mutations in <i>ZFHX1B</i>

    Further delineation of the phenotype associated with heterozygous mutations in <i>ZFHX1B</i> 由 Meredith Wilson, David Mowat, Florence Dastot‐Le Moal, Valère Cacheux, Helena Kääriäinen, Danny Cass, Dian Donnai, Jill Clayton‐Smith, Sharron Townshend, Cynthia J. Curry, Michael Gattas, Stephen R. Braddock, Bronwyn Kerr, Salim Aftimos, Harry Zehnwirth, Catherine Barrey, Michel Goossens

    出版 2003
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  14. 14
    Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease

    Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease 由 Rachel Lennon, Helen M. Stuart, Agnieszka Bierżyńska, Michael J. Randles, Bronwyn Kerr, Katherine A. Hillman, Gauri Batra, J. M. H. Campbell, Helen Storey, Frances Flinter, Ania Koziell, Gavin I. Welsh, Moin A. Saleem, Nicholas J.A. Webb, Adrian S. Woolf

    出版 2015
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  15. 15
    Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

    Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome 由 Thomas Neumann, Judith Allanson, Ines Kavamura, Bronwyn Kerr, Giovanni Neri, Jacqueline A. Noonan, Viviana Cordeddu, Kate Gibson, Andreas Tzschach, Gabriele Krüger, Maria Hoeltzenbein, Timm O. Goecke, Hans-Gerd Kehl, Beate Albrecht, Klaudiusz Łuczak, Maria Sąsiadek, Luciana Musante, Rohan Laurie, Hartmut Peters, Marco Tartaglia, Martin Zenker, Vera M. Kalscheuer

    出版 2008
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  16. 16
    Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues

    Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues 由 Katherine A. Rauen, Susan Huson, Emma Burkitt‐Wright, D. Gareth Evans, Said Farschtschi, Rosalie E. Ferner, David H. Gutmann, C. Oliver Hanemann, Bronwyn Kerr, Eric Legius, Luis F. Parada, Michael A. Patton, Juha Peltonen, Nancy Ratner, Vincent M. Riccardi, Thijs van der Vaart, Miikka Vikkula, David Viskochil, Martin Zenker, Meena Upadhyaya

    出版 2014
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  17. 17
    Mutations in HPSE2 Cause Urofacial Syndrome

    Mutations in HPSE2 Cause Urofacial Syndrome 由 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

    出版 2010
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  18. 18
    Costello syndrome: Clinical phenotype, genotype, and management guidelines

    Costello syndrome: Clinical phenotype, genotype, and management guidelines 由 Karen W. Gripp, Lindsey A. Morse, Marni E. Axelrad, Kathryn C. Chatfield, Aaron Chidekel, William B. Dobyns, Daniel Doyle, Bronwyn Kerr, Angela E. Lin, David D. Schwartz, Barbara Sibbles, Dawn H. Siegel, Suma P. Shankar, David A. Stevenson, Mihir M. Thacker, K. Nicole Weaver, Sue M. White, Katherine A. Rauen

    出版 2019
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  19. 19
    Contributions of intrinsic mutation rate and selfish selection to levels of de novo <i>HRAS</i> mutations in the paternal germline

    Contributions of intrinsic mutation rate and selfish selection to levels of de novo <i>HRAS</i> mutations in the paternal germline 由 Eleni Giannoulatou, Gil McVean, Indira B. Taylor, Simon J. McGowan, Geoffrey J. Maher, Zamin Iqbal, Susanne P. Pfeifer, Isaac Turner, Emma M.M. Burkitt Wright, Jennifer Shorto, Aysha Itani, Karen Turner, Lorna Gregory, David Buck, Ewa Rajpert‐De Meyts, Leendert H. J. Looijenga, Bronwyn Kerr, Andrew O.M. Wilkie, Anne Goriely

    出版 2013
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  20. 20
    Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

    Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome 由 Jill Clayton‐Smith, James O’Sullivan, Sarah B. Daly, Sanjeev S. Bhaskar, Ruth Day, Beverley Anderson, Anne K. Voss, Tim Thomas, Leslie G. Biesecker, Philip Smith, Alan Fryer, Kate Chandler, Bronwyn Kerr, May Tassabehji, Sally Ann Lynch, Małgorzata Krajewska‐Walasek, Shane McKee, Janine Smith, Elizabeth Sweeney, Sahar Mansour, Shehla Mohammed, Dian Donnai, Graeme Black

    出版 2011
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