Resultados de búsqueda - Smithson, Sarah

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  1. 1
    Jürgen W. Spranger, Paula W. Brill, Christine Hall, Gen Nishimura, Andrea Superti-Furga, and Sheila Unger: Bone dysplasias: an atlas of genetic disorders of skeletal development: Fourth Edition, ISBN: 9780190626655

    Jürgen W. Spranger, Paula W. Brill, Christine Hall, Gen Nishimura, Andrea Superti-Furga, and Sheila Unger: Bone dysplasias: an atlas of genetic disorders of skeletal development: F... por Smithson, Sarah

    Publicado 2019
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  2. 2
    Medical students’ reactions to an experience-based learning model of clinical education

    Medical students’ reactions to an experience-based learning model of clinical education por Hay, Alexandra, Smithson, Sarah, Mann, Karen, Dornan, Tim

    Publicado 2013
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  3. 3
    Time to revive the GP-focused clinical examination

    Time to revive the GP-focused clinical examination por Smithson, Sarah, Bartlett, Maggie, Blanchard, David, Webb, Matthew

    Publicado 2017
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  4. 4
    New macular findings in individuals with biallelic KLHL7 gene mutation

    New macular findings in individuals with biallelic KLHL7 gene mutation por Heng, Ling Zhi, Kennedy, Joanna, Smithson, Sarah, Newbury-Ecob, Ruth, Churchill, Amanda

    Publicado 2019
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  5. 5
    Liver Enzymes Elevation and Immune Reconstitution Among Treatment-Naïve HIV-Infected Patients Instituting Antiretroviral Therapy

    Liver Enzymes Elevation and Immune Reconstitution Among Treatment-Naïve HIV-Infected Patients Instituting Antiretroviral Therapy por OFOTOKUN, IGHOVWERHA, SMITHSON, SARAH E., LU, CHENGXING, EASLEY, KIRK A., LENNOX, JEFFREY L.

    Publicado 2007
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  6. 6
    Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report

    Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case... por Mason, Anna E., Grier, David, Smithson, Sarah F., Burren, Christine P., Gradhand, Elise

    Publicado 2020
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  7. 7
    Pituitary apoplexy associated with acute COVID-19 infection and pregnancy

    Pituitary apoplexy associated with acute COVID-19 infection and pregnancy por Chan, Julie L., Gregory, Kimberly D., Smithson, Sarah S., Naqvi, Mariam, Mamelak, Adam N.

    Publicado 2020
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  8. 8
    Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)

    Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome) por Keogh, Steven J, McKee, Shane, Smithson, Sarah F, Grier, David, Steward, Colin G

    Publicado 2012
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  9. 9
    Challenges in long-term control of hypercalcaemia with denosumab after haematopoietic stem cell transplantation for TNFRSF11A osteoclast-poor autosomal recessive osteopetrosis

    Challenges in long-term control of hypercalcaemia with denosumab after haematopoietic stem cell transplantation for TNFRSF11A osteoclast-poor autosomal recessive osteopetrosis por Taylor-Miller, Tashunka, Sivaprakasam, Ponni, Smithson, Sarah F., Steward, Colin G., Burren, Christine P.

    Publicado 2020
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  10. 10
    Medical Student Leadership Development through a Business School Partnership Model: A Case Study and Implementation Strategy

    Medical Student Leadership Development through a Business School Partnership Model: A Case Study and Implementation Strategy por Daaleman, Timothy P, Storrie, Mindy, Beck Dallaghan, Gary, Smithson, Sarah, Gilliland, Kurt O, Byerley, Julie S

    Publicado 2021
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  11. 11
    TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton

    TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton por Burren, Christine P., Caswell, Richard, Castle, Bruce, Welch, C. Ross, Hilliard, Tom N., Smithson, Sarah F., Ellard, Sian

    Publicado 2018
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  12. 12
    Peak Performance: A Communications-Based Leadership and Teamwork Simulation for Fourth-Year Medical Students

    Peak Performance: A Communications-Based Leadership and Teamwork Simulation for Fourth-Year Medical Students por Smithson, Sarah, Beck Dallaghan, Gary, Crowner, Jason, Derry, Laura Trollinger, Vijayakumar, Akshitha (Ammu), Storrie, Mindy, Daaleman, Timothy P

    Publicado 2020
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  13. 13
    Predictive testing for inherited prion disease: report of 22 years experience

    Predictive testing for inherited prion disease: report of 22 years experience por Owen, Jane, Beck, Jon, Campbell, Tracy, Adamson, Gary, Gorham, Michele, Thompson, Andrew, Smithson, Sarah, Rosser, Elizabeth, Rudge, Peter, Collinge, John, Mead, Simon

    Publicado 2014
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  14. 14
    SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

    SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome por Crippa, Milena, Bestetti, Ilaria, Maitz, Silvia, Weiss, Karin, Spano, Alice, Masciadri, Maura, Smithson, Sarah, Larizza, Lidia, Low, Karen, Cohen, Lior, Finelli, Palma

    Publicado 2020
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  15. 15
    Clinical utility gene card for: Cantú syndrome

    Clinical utility gene card for: Cantú syndrome por Kirk, Edwin P, Scurr, Ingrid, van Haaften, Gijs, van Haelst, Mieke M, Nichols, Colin G, Williams, Maggie, Smithson, Sarah F, Grange, Dorothy K

    Publicado 2017
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  16. 16
    Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome

    Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome por Zhou, Yan, Koelling, Nils, Fenwick, Aimée L., McGowan, Simon J., Calpena, Eduardo, Wall, Steven A., Smithson, Sarah F., Wilkie, Andrew O.M., Twigg, Stephen R.F.

    Publicado 2018
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  17. 17
    Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications

    Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications por Bargal, Ruth, Cormier-Daire, Valerie, Ben-Neriah, Ziva, Le Merrer, Martine, Sosna, Jacob, Melki, Judith, Zangen, David H., Smithson, Sarah F., Borochowitz, Zvi, Belostotsky, Ruth, Raas-Rothschild, Annick

    Publicado 2009
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  18. 18
    Brittle cornea syndrome: recognition, molecular diagnosis and management

    Brittle cornea syndrome: recognition, molecular diagnosis and management por Burkitt Wright, Emma MM, Porter, Louise F, Spencer, Helen L, Clayton-Smith, Jill, Au, Leon, Munier, Francis L, Smithson, Sarah, Suri, Mohnish, Rohrbach, Marianne, Manson, Forbes DC, Black, Graeme CM

    Publicado 2013
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  19. 19
    Autism, language and communication in children with sex chromosome trisomies

    Autism, language and communication in children with sex chromosome trisomies por Bishop, Dorothy V M, Jacobs, Patricia A, Lachlan, Katherine, Wellesley, Diana, Barnicoat, Angela, Boyd, Patricia A, Fryer, Alan, Middlemiss, Prisca, Smithson, Sarah, Metcalfe, Kay, Shears, Deborah, Leggett, Victoria, Nation, Kate, Scerif, Gaia

    Publicado 2010
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  20. 20
    De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

    De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome por Jones, Wendy D., Dafou, Dimitra, McEntagart, Meriel, Woollard, Wesley J., Elmslie, Frances V., Holder-Espinasse, Muriel, Irving, Melita, Saggar, Anand K., Smithson, Sarah, Trembath, Richard C., Deshpande, Charu, Simpson, Michael A.

    Publicado 2012
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