檢索結果 - Jennifer Ibrahim
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A pooled analysis of adverse events in 393 adults with Gaucher disease type 1 from four clinical trials of oral eliglustat: Evaluation of frequency, timing, and duration 由 Michel Peterschmitt, Gerald F. Cox, Jennifer Ibrahim, James A. MacDougall, Lisa H. Underhill, Palni Patel, Sebastiaan J.M. Gaemers
出版 2017Artigo -
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The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system 由 Fady M. Mikhail, Rachel D. Burnside, Brooke Rush, Jennifer Ibrahim, Robin Godshalk, S. Lane Rutledge, Nathaniel H. Robin, Maria Descartes, Andrew J. Carroll
出版 2013Artigo -
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The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP 由 Sarah M. Nikkel, Andrew Dauber, Sonja de Munnik, Meghan Connolly, Rebecca L. Hood, Oana Caluseriu, Jane A. Hurst, Usha Kini, Małgorzata J.M. Nowaczyk, Alexandra Afenjar, Beate Albrecht, Judith Allanson, Paolo Balestri, Tawfeg Ben‐Omran, Francesco Brancati, Isabel Cordeiro, Bruna Santos da Cunha, Louisa A Delaney, Anne Destrèe, David Fitzpatrick, Francesca Forzano, Neeti Ghali, Greta Gillies, Katerina Harwood, Yvonne Hendriks, Delphine Héron, Alexander Hoischen, Engela Honey, Lies H. Hoefsloot, Jennifer Ibrahim, Claire M Jacob, Sarina G. Kant, Chong Ae Kim, Edwin P. Kirk, Nine V.A.M. Knoers, Didier Lacombe, Chung Lee, Ivan F. M. Lo, Luiza Silveira Lucas, Francesca Mari, Verónica Mericq, Jukka S. Moilanen, Sanne Traasdahl Møller, Stéphanie Moortgat, Daniela T. Pilz, Kate Pope, Susan Price, Alessandra Renieri, Joaquim Sá, Jeroen Schoots, Elizabeth Lemos Silveira, Marleen Simon, Anne Slavotinek, I. Karen Temple, Ineke van der Burgt, Bert B.A. de Vries, James D. Weisfeld‐Adams, Margo L. Whiteford, Dagmar Wierczorek, Jan M. Wit, Connie Fung On Yee, Chandree L. Beaulieu, Sue M. White, Dennis E. Bulman, Ernie M.H.F. Bongers, Han G. Brunner, Murray Feingold, Kym M. Boycott
出版 2013Artigo -
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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correla... 由 Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, J. Nicholas Cochran, Mary‐Alice Abbott, Joan Atkin, Dusica Babovic‐Vuksanovic, Christopher Barnett, Melissa Crenshaw, Dennis W. Bartholomew, Lina Basel, Gary A. Bellus, Shay Ben‐Shachar, Martin G. Bialer, David Bick, Bruce Blumberg, Fanny Cortés, Karen L. David, Anne Destrèe, Anna Duat Rodríguez, Dawn Earl, Luis Escobar, Marthanda Eswara, Begoña Ezquieta, Ian M. Frayling, Moshe Frydman, Kathy Gardner, Karen W. Gripp, Concepción Hernández‐Chico, Kurt Heyrman, Jennifer Ibrahim, Sandra Janssens, Beth Keena, Isabel Llano‐Rivas, Kathy Leppig, Marie McDonald, Vinod K. Misra, Jennifer Mulbury, Vinodh Narayanan, Naama Orenstein, Patricia Galvin‐Parton, Hélio Pedro, Enikö K. Pivnick, Cynthia M. Powell, Linda M. Randolph, Salmo Raskin, Jordi Rosell, Karol Rubin, Margretta R. Seashore, Christian P. Schaaf, Angela E. Scheuerle, Meredith Schultz, Elizabeth K. Schorry, Rhonda E. Schnur, Elizabeth Siqveland, Amanda Tkachuk, James H. Tonsgard, Meena Upadhyaya, Ishwar C. Verma, Stephanie E Wallace, Charles A. Williams, Elaine H. Zackai, Jonathan Zonana, Conxi Lázaro, Kathleen Claes, Bruce R. Korf, Yolanda Martín, Eric Legius, Ludwine Messiaen
出版 2015Artigo
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