Resultados de búsqueda - Robert L. Conway

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  1. 1
    Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis

    Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abn... por Ghayda Mirzaa, Robert L. Conway, Karen W. Gripp, Tally Lerman‐Sagie, Dawn H. Siegel, Linda S. deVries, Dorit Lev, Nancy Kramer, Elizabeth Hopkins, John M. Graham, William B. Dobyns

    Publicado 2012
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  2. 2
    Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease

    Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease por Suhrad G. Banugaria, Sean N. Prater, Judeth K. McGann, Jonathan Feldman, Jesse A. Tannenbaum, Carrie Bailey, Renuka Gera, Robert L. Conway, David Viskochil, Joyce A. Kobori, Amy S. Rosenberg, Priya S. Kishnani

    Publicado 2012
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  3. 3
    Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders

    Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders por Jerry Vockley, Joel Charrow, J Ganesh, Marthand S. Eswara, George A. Díaz, Elizabeth McCracken, Robert L. Conway, Gregory M. Enns, Joanne P. Starr, R. Wang, José E. Abdenur, Joan Sánchez-de-Toledo, Deborah Marsden

    Publicado 2016
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  4. 4
    Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients

    Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients por Robert L. Conway, Barry D. Pressman, William B. Dobyns, Moise Danielpour, John Lee, Pedro A. Sanchez‐Lara, Merlin G. Butler, Elaine H. Zackai, Lindsey Campbell, Sulagna C. Saitta, Carol L. Clericuzio, Jeff M. Milunsky, H. Eugene Hoyme, Joseph T.C. Shieh, John B. Moeschler, Barbara F. Crandall, Julie Lauzon, David Viskochil, Brian Harding, John M. Graham

    Publicado 2007
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  5. 5
    De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

    De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes por Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak, Margaret Beddaoui, Diana Alcantara, Robert L. Conway, Judith St‐Onge, Jeremy Schwartzentruber, Karen W. Gripp, Sarah M. Nikkel, Thea Worthylake, Christopher T. Sullivan, Thomas Ward, Hailly E Butler, Nancy Kramer, Beate Albrecht, Christine M. Armour, Linlea Armstrong, Oana Caluseriu, Cheryl Cytrynbaum, Beth A. Drolet, A. Micheil Innes, Julie Lauzon, Angela E. Lin, Grazia M.S. Mancini, Wendy S. Meschino, James D. Reggin, Anand Saggar, Tally Lerman‐Sagie, Gökhan Uyanık, Rosanna Weksberg, Birgit Zirn, Chandree L. Beaulieu, Jacek Majewski, Dennis E. Bulman, Mark O’Driscoll, Jay Shendure, John M. Graham, Kym M. Boycott, William B. Dobyns

    Publicado 2012
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  6. 6
    PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

    PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution por Ghayda Mirzaa, Andrew E. Timms, Valerio Conti, Evan A. Boyle, Katta M. Girisha, Beth Martin, Martin Kircher, Carissa Olds, Jane Juusola, Sarah Collins, Kaylee Park, Melissa Carter, Ian Glass, Inge Krägeloh-Mann, David Chitayat, Aditi Shah Parikh, Rachael Bradshaw, Erin Torti, Steve Braddock, Leah W. Burke, Sondhya Ghedia, Mark Stephan, Fiona Stewart, Chitra Prasad, Melanie Napier, Sulagna C. Saitta, Rachel Straussberg, Michael T. Gabbett, Bridget O’Connor, Catherine E. Keegan, Lim Jiin Yin, Angeline Lai, Nicole Martin, Margaret L. McKinnon, Marie-Claude Addor, Luigi Boccuto, Charles E. Schwartz, Agustina Lanöel, Robert L. Conway, Koenraad Devriendt, Katrina Tatton‐Brown, Mary Ella Pierpont, Michael J. Painter, Lisa Worgan, James D. Reggin, Raoul C. M. Hennekam, Karen D. Tsuchiya, Colin C. Pritchard, Mariana Aracena, Karen W. Gripp, Maria Cordisco, Hilde Van Esch, Livia Garavelli, Cynthia J. Curry, Anne Goriely, Hülya Kayserilli, Jay Shendure, John M. Graham, Renzo Guerrini, William B. Dobyns

    Publicado 2016
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