Resultados de búsqueda - Clair A. Francomano

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  1. 1
    The Molecular and Genetic Basis of Fibroblast Growth Factor Receptor 3 Disorders: The Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis Nigricans*

    The Molecular and Genetic Basis of Fibroblast Growth Factor Receptor 3 Disorders: The Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome wi... por Zoltán Vajó, Clair A. Francomano, Douglas J. Wilkin

    Publicado 2000
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  2. 2
    Clinician-associated traumatization from difficult medical encounters: Results from a qualitative interview study on the Ehlers-Danlos Syndromes

    Clinician-associated traumatization from difficult medical encounters: Results from a qualitative interview study on the Ehlers-Danlos Syndromes por Colin Halverson, Heather L. Penwell, Clair A. Francomano

    Publicado 2023
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  3. 3
    Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.

    Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. por William F. Schwindinger, Clair A. Francomano, Michael A. Levine

    Publicado 1992
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  4. 4
    Comorbidity, misdiagnoses, and the diagnostic odyssey in patients with hypermobile Ehlers-Danlos syndrome

    Comorbidity, misdiagnoses, and the diagnostic odyssey in patients with hypermobile Ehlers-Danlos syndrome por Colin Halverson, Sha Cao, Susan M. Perkins, Clair A. Francomano

    Publicado 2023
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  5. 5
    Hyaline cartilage engineered by chondrocytes in pellet culture: histological, immunohistochemical and ultrastructural analysis in comparison with cartilage explants

    Hyaline cartilage engineered by chondrocytes in pellet culture: histological, immunohistochemical and ultrastructural analysis in comparison with cartilage explants por Zijun Zhang, J. Michael McCaffery, Richard G. Spencer, Clair A. Francomano

    Publicado 2004
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  6. 6
    The international consortium on the Ehlers–Danlos syndromes

    The international consortium on the Ehlers–Danlos syndromes por Lara Bloom, Peter H. Byers, Clair A. Francomano, Brad T. Tinkle, Fransiska Malfait

    Publicado 2017
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  7. 7
    Software for Constructing and Verifying Pedigrees within Large Genealogies and an Application to the Old Order Amish of Lancaster County

    Software for Constructing and Verifying Pedigrees within Large Genealogies and an Application to the Old Order Amish of Lancaster County por Richa Agarwala, Leslie G. Biesecker, Katherine Hopkins, Clair A. Francomano, Alejandro A. Schäffer

    Publicado 1998
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  8. 8
    Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains

    Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains por Harry C. Dietz, Jorge Saraiva, Reed E. Pyeritz, Garry R. Cutting, Clair A. Francomano

    Publicado 1992
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  9. 9
    Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome

    Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome por Maria Roma, Colleen L. Marden, Inge De Wandele, Clair A. Francomano, Peter C. Rowe

    Publicado 2018
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  10. 10
    Pain management in the Ehlers–Danlos syndromes

    Pain management in the Ehlers–Danlos syndromes por Pradeep Chopra, Brad T. Tinkle, C. Hamonet, Isabelle Brock, Anne Gompel, Antonio Bulbena, Clair A. Francomano

    Publicado 2017
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  11. 11
    Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infant

    Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infant por Ada Hamosh, John W. McDonald, David Valle, Clair A. Francomano, Ernst Niedermeyer, Michael V. Johnston

    Publicado 1992
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  12. 12
    Ehlers–Danlos syndrome, classical type

    Ehlers–Danlos syndrome, classical type por Jessica Bowen, Glenda Sobey, Nigel Burrows, Marina Colombi, Mark E. Lavallee, Fransiska Malfait, Clair A. Francomano

    Publicado 2017
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  13. 13
    Cervical medullary syndrome secondary to craniocervical instability and ventral brainstem compression in hereditary hypermobility connective tissue disorders: 5-year follow-up after craniocervical reduction, fusion, and stabilization

    Cervical medullary syndrome secondary to craniocervical instability and ventral brainstem compression in hereditary hypermobility connective tissue disorders: 5-year follow-up afte... por Fraser C. Henderson, Clair A. Francomano, Myles Koby, Kelly Tuchman, Jessica Young Adcock, Sunil J. Patel

    Publicado 2019
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  14. 14
    Sleep-disordered breathing in children with achondroplasia

    Sleep-disordered breathing in children with achondroplasia por Peter J. Mogayzel, John L. Carroll, Gerald M. Loughlin, Orest Hurko, Clair A. Francomano, Carole L. Marcus

    Publicado 1998
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  15. 15
    A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis.

    A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis. por M R Johnson, M H Polymeropoulos, Hans L. Vos, Rosa Isela Ortiz De Luna, Clair A. Francomano

    Publicado 1996
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  16. 16
    Prevalence of hypermobile Ehlers-Danlos syndrome in postural orthostatic tachycardia syndrome

    Prevalence of hypermobile Ehlers-Danlos syndrome in postural orthostatic tachycardia syndrome por Amanda J. Miller, Lauren E. Stiles, Timothy Sheehan, Rebecca Bascom, Howard P. Levy, Clair A. Francomano, Amy C. Arnold

    Publicado 2020
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  17. 17
    Association of Chiari malformation type I and tethered cord syndrome: preliminary results of sectioning filum terminale

    Association of Chiari malformation type I and tethered cord syndrome: preliminary results of sectioning filum terminale por Thomas H. Milhorat, Paolo A. Bolognese, Misao Nishikawa, Clair A. Francomano, Nazli B. McDonnell, Chan Roonprapunt, Roger W. Kula

    Publicado 2009
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  18. 18
    Multiple Molecular Mechanisms Underlying Subdiagnostic Variants of Marfan Syndrome

    Multiple Molecular Mechanisms Underlying Subdiagnostic Variants of Marfan Syndrome por Robert A. Montgomery, Michael T. Geraghty, Evelyn Bull, Bruce D. Gelb, Maureen Johnson, Iain McIntosh, Clair A. Francomano, Harry C. Dietz

    Publicado 1998
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  19. 19
    Four Novel FBN1 Mutations: Significance for Mutant Transcript Level and EGF-like Domain Calcium Binding in the Pathogenesis of Marfan Syndrome

    Four Novel FBN1 Mutations: Significance for Mutant Transcript Level and EGF-like Domain Calcium Binding in the Pathogenesis of Marfan Syndrome por Harry C. Dietz, Iain McIntosh, Lynn Y. Sakai, Glen M. Corson, Stephen C. Chalberg, Reed E. Pyeritz, Clair A. Francomano

    Publicado 1993
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  20. 20
    Echocardiographic findings in classical and hypermobile Ehlers–Danlos syndromes

    Echocardiographic findings in classical and hypermobile Ehlers–Danlos syndromes por Nazli B. McDonnell, Beverly Gorman, Katherine W. Mandel, Shepherd H. Schurman, Alison Assanah‐Carroll, Susan A. Mayer, Samer S. Najjar, Clair A. Francomano

    Publicado 2005
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