Risultati della ricerca - Gail E. Graham

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  1. 1
    GermlinePTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba Syndrome

    GermlinePTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba Syndrome di Roberto T. Zori, Deborah J. Marsh, Gail E. Graham, Errol B. Marliss, Charis Eng

    Pubblicazione 1998
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  2. 2
    High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome

    High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome di Stefan Aretz, Dietlinde Stienen, Siegfried Uhlhaas, Steffan Loff, Walter Back, Constanze Pagenstecher, D. Ross McLeod, Gail E. Graham, Elisabeth Mangold, René Santer, Peter Propping, Waltraut Friedl

    Pubblicazione 2005
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  3. 3
    Congenital Insensitivity to Pain with Anhidrosis: Novel Mutations in the TRKA (NTRK1) Gene Encoding A High-Affinity Receptor for Nerve Growth Factor

    Congenital Insensitivity to Pain with Anhidrosis: Novel Mutations in the TRKA (NTRK1) Gene Encoding A High-Affinity Receptor for Nerve Growth Factor di Sek Mardy, Yuichi Miura, Fumio Endo, Ichiro Matsuda, László Sztriha, Philippe Frossard, Allie Moosa, Essam A. R. Ismail, Alfons Macaya, Generoso Andria, Ennio Toscano, William T. Gibson, Gail E. Graham, Yasuhiro Indo

    Pubblicazione 1999
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  4. 4
    Genotype-phenotype correlations in MYCN-related Feingold syndrome

    Genotype-phenotype correlations in MYCN-related Feingold syndrome di Carlo Marcelis, Frans A. Hol, Gail E. Graham, Paul N.M.A. Rieu, Richárd Kellermayer, Rowdy Meijer, Dorien Lugtenberg, Hans Scheffer, Hans van Bokhoven, Han G. Brunner, Arjan P.M. de Brouwer

    Pubblicazione 2008
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  5. 5
    Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C

    Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C di Karen W. Gripp, Elizabeth Hopkins, Katia Sol‐Church, Deborah L. Stabley, Marni E. Axelrad, Daniel Doyle, William B. Dobyns, Cindy Hudson, John P. Johnson, Romano Tenconi, Gail E. Graham, Ana Berta Sousa, Raoul Heller, Maria Piccione, Giovanni Corsello, Gail E. Herman, Marco Tartaglia, Angela E. Lin

    Pubblicazione 2011
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  6. 6
    Pre- and Postnatal Transplantation of Fetal Mesenchymal Stem Cells in Osteogenesis Imperfecta: A Two-Center Experience

    Pre- and Postnatal Transplantation of Fetal Mesenchymal Stem Cells in Osteogenesis Imperfecta: A Two-Center Experience di Cecilia Götherström, Magnus Westgren, Steven W. Shaw, Eva Åström, Arijit Biswas, Peter H. Byers, Citra Nurfarah Zaini Mattar, Gail E. Graham, Jahan Taslimi, Uwe Ewald, Nicholas M. Fisk, Allen Eng Juh Yeoh, Ju-Li Lin, Po-Jen Cheng, Mahesh Choolani, Katarina Le Blanc, Jerry Kok Yen Chan

    Pubblicazione 2013
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  7. 7
    Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

    Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit di Hussein Daoud, Stephanie M. Luco, Rui Li, Eric Bareke, Chandree L. Beaulieu, Olga Jarinova, Nancy Carson, Sarah M. Nikkel, Gail E. Graham, Julie Richer, Christine M. Armour, Dennis E. Bulman, Pranesh Chakraborty, Michael T. Geraghty, Matthew A. Lines, Thierry Lacaze‐Masmonteil, Jacek Majewski, Kym M. Boycott, David A. Dyment

    Pubblicazione 2016
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  8. 8
    TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome

    TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome di Deborah A. McDermott, Michael Bressan, Jié He, Joseph S. Lee, Salim Aftimos, Martina Brueckner, Fiona J. Gilbert, Gail E. Graham, Mark C. Hannibal, Jeffrey W. Innis, Mary Ella Pierpont, Annick Raas‐Rothschild, Alan Shanske, Wendy E. Smith, Robert H. Spencer, Martin G. St. John-Sutton, Lionel Van Maldergem, Darrel Waggoner, Matthew P. Weber, Craig T. Basson

    Pubblicazione 2005
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  9. 9
    Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

    Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease di Mark I. Rees, Kirsten Harvey, Brian R. Pearce, Seo‐Kyung Chung, Ian Duguid, P K Thomas, Sarah Beatty, Gail E. Graham, Linlea Armstrong, Rita Shiang, Kim Abbott, Sameer M. Zuberi, John B.P. Stephenson, Michael J. Owen, Marina A.J. Tijssen, Arn M. J. M. van den Maagdenberg, Trevor G. Smart, Stéphane Supplisson, Victoria L. Harvey

    Pubblicazione 2006
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  10. 10
    Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease

    Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease di Eloisa Carta, Seo‐Kyung Chung, Victoria M. James, Angela K. Robinson, Jennifer Gill, Nathalie Rémy, Jean-François Vanbellinghen, Cheney Drew, S. Cagdas, Duncan Cameron, Frances M. Cowan, Mireria Del Toro, Gail E. Graham, Adnan Y. Manzur, Amira Masri, Serge Rivera, Emmanuel Scalais, Rita Shiang, Kate Sinclair, Catriona A. Stuart, Marina A.J. Tijssen, Grahame Wise, Sameer M. Zuberi, Kirsten Harvey, Brian R. Pearce, Maya Topf, Rhys H. Thomas, Stéphane Supplisson, Mark I. Rees, Victoria L. Harvey

    Pubblicazione 2012
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  11. 11
    Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

    Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression di Chelsea Lowther, Marsha Speevak, Christine M. Armour, Elaine Goh, Gail E. Graham, Chumei Li, Susan Zeesman, Małgorzata J.M. Nowaczyk, Lee‐Anne Schultz, Antonella Morra, Rob Nicolson, Peter Bikangaga, Dawa Samdup, Mostafa Zaazou, Kerry Boyd, Jack H. Jung, Victoria Mok Siu, Manjulata Rajguru, Sharan Goobie, Mark A. Tarnopolsky, Chitra Prasad, Paul T. Dick, Asmaa S. Hussain, Margreet Walinga, Renske G. Reijenga, Matthew J. Gazzellone, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer, Dimitri J. Stavropoulos, M. Elizabeth McCready, Anne S. Bassett

    Pubblicazione 2016
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  12. 12
    Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

    Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care di Sarah L. Sawyer, Taila Hartley, David A. Dyment, Chandree L. Beaulieu, Jeremy Schwartzentruber, Amanda Smith, H. Melanie Bedford, Geneviève Bernard, François Bernier, Bernard Brais, Dennis E. Bulman, Jodi Warman‐Chardon, David Chitayat, Johnny Deladoëy, Bridget A. Fernandez, Patrick Frosk, Michael T. Geraghty, Brenda Gerull, William T. Gibson, Robert M. Gow, Gail E. Graham, Jane S. Green, Elise Héon, Gabriella Horváth, A. Micheil Innes, Nada Jabado, Raymond H. Kim, R. K. Koenekoop, Aneal Khan, Ordan J. Lehmann, Roberto Mendoza‐Londono, Jacques L. Michaud, Sarah M. Nikkel, Lynette S. Penney, Constantin Polychronakos, Julie Richer, Guy A. Rouleau, Mark E. Samuels, Victoria Mok Siu, Oksana Suchowersky, Mark A. Tarnopolsky, Grace Yoon, Farah Zahir, Jacek Majewski, Kym M. Boycott

    Pubblicazione 2015
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