Resultados da busca - Mary Porteous

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  1. 1
    Hereditary haemorrhagic telangiectasia: a clinical analysis.

    Hereditary haemorrhagic telangiectasia: a clinical analysis. por Mary Porteous, John Burn, S J Proctor

    Publicado em 1992
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  2. 2
    Integrated care pathways

    Integrated care pathways por H. Campbell, Rhona Hotchkiss, Nicholas J. Bradshaw, Mary Porteous

    Publicado em 1998
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  3. 3
    Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?

    Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? por Jonathan Berg, Alan E. Guttmacher, Douglas A. Marchuk, Mary Porteous

    Publicado em 1996
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  4. 4
    Association of MUTYH and colorectal cancer

    Association of MUTYH and colorectal cancer por Albert Tenesa, Harry Campbell, RA Barnetson, Mary Porteous, Malcolm G. Dunlop, Susan M. Farrington

    Publicado em 2006
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  5. 5
    Moving into the mainstream: healthcare professionals’ views of implementing treatment focussed genetic testing in breast cancer care

    Moving into the mainstream: healthcare professionals’ views of implementing treatment focussed genetic testing in breast cancer care por Nina Hallowell, S.C.D. Wright, D. Stirling, Charlie Gourley, O. Young, Mary Porteous

    Publicado em 2019
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  6. 6
    Accuracy of reporting of family history of colorectal cancer

    Accuracy of reporting of family history of colorectal cancer por Rory Mitchell, David Brewster, H. Campbell, Mary Porteous, A H Wyllie, C C Bird, Malcolm G. Dunlop

    Publicado em 2004
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  7. 7
    Germline Susceptibility to Colorectal Cancer Due to Base-Excision Repair Gene Defects

    Germline Susceptibility to Colorectal Cancer Due to Base-Excision Repair Gene Defects por Susan M. Farrington, Albert Tenesa, Rebecca A. Barnetson, Alice Wiltshire, James Prendergast, Mary Porteous, Harry Campbell, Malcolm G. Dunlop

    Publicado em 2005
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  8. 8
    Identification and Survival of Carriers of Mutations in DNA Mismatch-Repair Genes in Colon Cancer

    Identification and Survival of Carriers of Mutations in DNA Mismatch-Repair Genes in Colon Cancer por Rebecca A. Barnetson, Albert Tenesa, Susan M. Farrington, Iain D. Nicholl, Roseanne Cetnarskyj, Mary Porteous, Harry Campbell, Malcolm G. Dunlop

    Publicado em 2006
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  9. 9
    OFD1, the Gene Mutated in Oral-Facial-Digital Syndrome Type 1, Is Expressed in the Metanephros and in Human Embryonic Renal Mesenchymal Cells

    OFD1, the Gene Mutated in Oral-Facial-Digital Syndrome Type 1, Is Expressed in the Metanephros and in Human Embryonic Renal Mesenchymal Cells por Leila Romio, Victoria Wright, Karen Price, Paul Winyard, Dian Donnai, Mary Porteous, Brunella Franco, Giovanna Giorgio, Sue Malcolm, Adrian S. Woolf, Sally Feather

    Publicado em 2003
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  10. 10
    The Activin Receptor-Like Kinase 1 Gene: Genomic Structure and Mutations in Hereditary Hemorrhagic Telangiectasia Type 2

    The Activin Receptor-Like Kinase 1 Gene: Genomic Structure and Mutations in Hereditary Hemorrhagic Telangiectasia Type 2 por Jonathan Berg, Carol J. Gallione, Timothy T. Stenzel, David W. Johnson, William P. Allen, Charles E. Schwartz, Charles E. Jackson, Mary Porteous, Douglas A. Marchuk

    Publicado em 1997
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  11. 11
    Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative RhoRac guanine nucleotide exchange factor

    Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative RhoRac guanine nucleotide exchange factor por N.German Pasteris, Amy B. Cadle, Lindsay J. Logie, Mary Porteous, Charles E. Schwartz, Roger E. Stevenson, Thomas W. Glover, R. Sid Wilroy, Jerome L. Gorski

    Publicado em 1994
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  12. 12
    Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer

    Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer por Rebecca A. Barnetson, Nicola Cartwright, Annelot van Vliet, Naila Haq, Kate Drew, Susan M. Farrington, Nicola Williams, Jon Warner, Harry Campbell, Mary Porteous, Malcolm G. Dunlop

    Publicado em 2007
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  13. 13
    Associations between dietary and lifestyle risk factors and colorectal cancer in the Scottish population

    Associations between dietary and lifestyle risk factors and colorectal cancer in the Scottish population por Evropi Τheodoratou, Susan M. Farrington, Albert Tenesa, Geraldine McNeill, Roseanne Cetnarskyj, Emmanouil Korakakis, Farhat V. N. Din, Mary Porteous, Malcolm G. Dunlop, Harry Campbell

    Publicado em 2013
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  14. 14
    A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12.

    A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12. por David W. Johnson, Jonathan Berg, Carol J. Gallione, Kimberly A. McAllister, Jon Warner, E.A. Helmbold, Dorene S. Markel, Charles E. Jackson, Mary Porteous, Douglas A. Marchuk

    Publicado em 1995
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  15. 15
    Diet, Environmental Factors, and Lifestyle Underlie the High Prevalence of Vitamin D Deficiency in Healthy Adults in Scotland, and Supplementation Reduces the Proportion That Are Severely Deficient

    Diet, Environmental Factors, and Lifestyle Underlie the High Prevalence of Vitamin D Deficiency in Healthy Adults in Scotland, and Supplementation Reduces the Proportion That Are S... por Lina Zgaga, Evropi Τheodoratou, Susan M. Farrington, Felix Agakov, Albert Tenesa, Marion Walker, Susan Knox, A. Michael Wallace, Roseanne Cetnarskyj, Geraldine McNeill, J. Kyle, Mary Porteous, MG Dunlop, Harry Campbell

    Publicado em 2011
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  16. 16
    Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

    Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifica... por Yoann Saillour, Ginevra Zanni, V. des Portes, D. Héron, Laurent Guibaud, M T Iba-Zizen, Jean‐Michel Pédespan, Karine Poirier, L. Castelnau, Cédric Julien, C Franconnet, David T. Bonthron, Mary Porteous, Jamel Chelly, Thierry Bienvenu

    Publicado em 2007
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  17. 17
    Genetic epidemiology of motor neuron disease-associated variants in the Scottish population

    Genetic epidemiology of motor neuron disease-associated variants in the Scottish population por Holly A. Black, Danielle Leighton, Elaine Cleary, Elaine Rose, Laura Stephenson, Shuna Colville, David Ross, Jon Warner, Mary Porteous, George Gorrie, Robert Swingler, David B. Goldstein, Matthew Harms, Peter Connick, Suvankar Pal, Timothy J. Aitman, Siddharthan Chandran

    Publicado em 2016
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  18. 18
    Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2

    Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2 por Emmelien Aten, Lisa C. Brasz, Dorothea Bornholdt, Ingeborg B. Hooijkaas, Mary Porteous, Virginia P. Sybert, Maarten H. Vermeer, Rolf H. A. M. Vossen, Michiel J.R. van der Wielen, Egbert Bakker, M.H. Breuning, Karl‐Heinz Grzeschik, Jan C. Oosterwijk, Johan T. den Dunnen

    Publicado em 2010
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  19. 19
    Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

    Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1 por Kimberly A. McAllister, K.M. Grogg, David W. Johnson, Carol J. Gallione, Melanie A. Baldwin, Charles E. Jackson, E.A. Helmbold, Dorene S. Markel, Wendy McKinnon, J. Murrel, Mary Kay McCormick, M. A. Pericak‐Vance, Peter Heutink, Ben A. Oostra, T. Haitjema, C.J.J. Westerman, Mary Porteous, Alan E. Guttmacher, Michelle Letarte, Douglas A. Marchuk

    Publicado em 1994
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  20. 20
    Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study

    Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study por Tommy Nyberg, Debra Frost, Daniel Barrowdale, D. Gareth Evans, Elizabeth Bancroft, Julian Adlard, Munaza Ahmed, Julian Barwell, Angela F. Brady, Carole Brewer, Jackie Cook, Rosemarie Davidson, Alan Donaldson, Jacqueline Eason, Helen Gregory, Alex Henderson, Louise Izatt, Michael J. Kennedy, Claire Miller, Patrick J. Morrison, Alex Murray, Kai‐Ren Ong, Mary Porteous, Caroline Pottinger, Mark T. Rogers, Lucy Side, Katie Snape, Lisa Walker, Marc Tischkowitz, Rosalind A. Eeles, Douglas F. Easton, Antonis C. Antoniou

    Publicado em 2019
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