نتائج البحث - David Sillence

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  1. 1
    A Dyadic Nosology for Osteogenesis Imperfecta and Bone Fragility Syndromes 2024

    A Dyadic Nosology for Osteogenesis Imperfecta and Bone Fragility Syndromes 2024 حسب David Sillence

    منشور في 2024
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  2. 2
    Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

    Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment حسب Fleur S. van Dijk, David Sillence

    منشور في 2014
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  3. 3
    Genetic heterogeneity in osteogenesis imperfecta.

    Genetic heterogeneity in osteogenesis imperfecta. حسب David Sillence, A Senn, D. M. Danks

    منشور في 1979
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  4. 4
    The differential diagnosis of children with joint hypermobility: a review of the literature

    The differential diagnosis of children with joint hypermobility: a review of the literature حسب Louise Tofts, Elizabeth Elliott, Craig Munns, Verity Pacey, David Sillence

    منشور في 2009
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  5. 5
    Medical complications of achondroplasia: a multicentre patient review.

    Medical complications of achondroplasia: a multicentre patient review. حسب Alasdair G. W. Hunter, Agnes Bankier, John Rogers, David Sillence, Charles I. Scott

    منشور في 1998
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  6. 6
    Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis

    Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis حسب Duncan B. Sparrow, David Sillence, Merridee A. Wouters, Peter D. Turnpenny, Sally L. Dunwoodie

    منشور في 2010
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  7. 7
    Mutated MESP2 Causes Spondylocostal Dysostosis in Humans

    Mutated MESP2 Causes Spondylocostal Dysostosis in Humans حسب Neil V. Whittock, Duncan B. Sparrow, Merridee A. Wouters, David Sillence, Sian Ellard, Sally L. Dunwoodie, Peter D. Turnpenny

    منشور في 2004
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  8. 8
    Gene Localization for an Autosomal Dominant Familial Periodic Fever to 12p13

    Gene Localization for an Autosomal Dominant Familial Periodic Fever to 12p13 حسب John C. Mulley, Kathrin Saar, Gerry Hewitt, Franz Rüschendorf, Hilary A. Phillips, Alison Colley, David Sillence, André Reis, Meredith Wilson

    منشور في 1998
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  9. 9
    Endoplasmic Reticulum-mediated Quality Control of Type I Collagen Production by Cells from Osteogenesis Imperfecta Patients with Mutations in the proα1(I) Chain Carboxyl-terminal Propeptide which Impair Subunit Assembly

    Endoplasmic Reticulum-mediated Quality Control of Type I Collagen Production by Cells from Osteogenesis Imperfecta Patients with Mutations in the proα1(I) Chain Carboxyl-terminal P... حسب Shireen R. Lamandé, Steven Chessler, Suzanne B. Golub, Peter H. Byers, Danny Chan, William G. Cole, David Sillence, John F. Bateman

    منشور في 1995
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  10. 10
    Functional performance in young Australian children with achondroplasia

    Functional performance in young Australian children with achondroplasia حسب Penelope J. Ireland, James McGill, Andreas Zankl, Robert S. Ware, Verity Pacey, J. Ault, Ravi Savarirayan, David Sillence, Elizabeth M. Thompson, Sharron Townshend, Leanne M. Johnston

    منشور في 2011
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  11. 11
    <i><scp>CTC</scp>1</i> mutations in a Brazilian family with progeroid features and recurrent bone fractures

    <i><scp>CTC</scp>1</i> mutations in a Brazilian family with progeroid features and recurrent bone fractures حسب Forough Sargolzaeiaval, Jiaming Zhang, Jennifer Schleit, Davor Lessel, Christian Kubisch, Débora Rossi Precioso, David Sillence, Fuki M. Hisama, Michael O. Dorschner, George M. Martin, Junko Oshima

    منشور في 2018
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  12. 12
    Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects

    Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects حسب Craig Munns, Somayyeh Fahiminiya, Nabin Poudel, Maria Cristina Munteanu, Jacek Majewski, David Sillence, Jordan P. Metcalf, Andrew Biggin, Francis H. Glorieux, François Fassier, Frank Rauch, Myron E. Hinsdale

    منشور في 2015
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  13. 13
    Early Diagnosis of Fibrodysplasia Ossificans Progressiva

    Early Diagnosis of Fibrodysplasia Ossificans Progressiva حسب Frederick S. Kaplan, Meiqi Xu, David L. Glaser, Felicity Collins, Michael Connor, Joseph A. Kitterman, David Sillence, Elaine H. Zackai, Vardit Ravitsky, Michael Zasloff, Arupa Ganguly, Eileen M. Shore

    منشور في 2008
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  14. 14
    A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

    A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders حسب Robert Gensure, Outi Mäkitie, Catherine Barclay, Catherine Chan, Steven R. DePalma, Murat Bastepe, H. Abuzahra, Richard Couper, Stefan Mundlos, David Sillence, Leena Ala Kokko, Jonathan G. Seidman, William G. Cole, Harald Jüppner

    منشور في 2005
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  15. 15
    Nosology and classification of genetic skeletal disorders: 2015 revision

    Nosology and classification of genetic skeletal disorders: 2015 revision حسب Luisa Bonafé, Valérie Cormier‐Daire, Christine M Hall, Ralph Lachman, Geert Mortier, Stefan Mundlos, Gen Nishimura, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Jürgen W. Spranger, Andrea Superti‐Furga, Matthew L. Warman, Sheila Unger

    منشور في 2015
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  16. 16
    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 حسب 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

    منشور في 2013
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  17. 17
    Nosology and classification of genetic skeletal disorders: 2019 revision

    Nosology and classification of genetic skeletal disorders: 2019 revision حسب Geert Mortier, Daniel H. Cohn, Valérie Cormier‐Daire, Christine M Hall, Deborah Krakow, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Andrea Superti‐Furga, Sheila Unger, Matthew L. Warman

    منشور في 2019
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  18. 18
    Contribution of DNA Sequence and CAG Size to Mutation Frequencies of Intermediate Alleles for Huntington Disease: Evidence from Single Sperm Analyses

    Contribution of DNA Sequence and CAG Size to Mutation Frequencies of Intermediate Alleles for Huntington Disease: Evidence from Single Sperm Analyses حسب Samuel S. Chong, E. Almqvist, H. Telenius, Leah LaTray, K. Nichol, B. Bourdelat-Parks, Y. Paul Goldberg, Bassem R. Haddad, Fiona Richards, David Sillence, Cheryl R. Greenberg, Elizabeth Ives, Ger van den Engh, Mark Hughes, Michael R. Hayden

    منشور في 1997
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  19. 19
    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 حسب 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

    منشور في 2011
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  20. 20
    Nosology and classification of genetic skeletal disorders: 2010 revision

    Nosology and classification of genetic skeletal disorders: 2010 revision حسب Matthew L. Warman, Valérie Cormier‐Daire, Christine M Hall, Deborah Krakow, Ralph Lachman, Martine LeMerrer, Geert Mortier, Stefan Mundlos, Gen Nishimura, David L. Rimoin, Stephen P. Robertson, Ravi Savarirayan, David Sillence, J Spranger, Sheila Unger, Bernhard Zabel, Andrea Superti‐Furga

    منشور في 2011
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