檢索結果 - Elizabeth Denenberg

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  1. 1
    Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis

    Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis 由 Karen W. Gripp, Dina J. Zand, Laurie Demmer, Carol E. Anderson, William B. Dobyns, Elaine H. Zackai, Elizabeth Denenberg, Kim Jenny, Deborah L. Stabley, Katia Sol‐Church

    出版 2013
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  2. 2
    Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

    Automated Clinical Exome Reanalysis Reveals Novel Diagnoses 由 Samuel W. Baker, Jill R. Murrell, Addie I. Nesbitt, Kieran B. Pechter, Jorune Balciuniene, Xiaonan Zhao, Zhenming Yu, Elizabeth Denenberg, Elizabeth T. DeChene, Alisha Wilkens, Elizabeth Bhoj, Qiaoning Guan, Matthew C. Dulik, Laura K. Conlin, Ahmad Abou Tayoun, Minjie Luo, Chao Wu, Kajia Cao, Mahdi Sarmady, Emma Bedoukian, Jennifer Tarpinian, Līvija Medne, Cara Skraban, Matthew A. Deardorff, Ian D. Krantz, Bryan L. Krock, Avni Santani

    出版 2018
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  3. 3
    WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

    WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features 由 Cara Skraban, Constance Wells, Preetha Markose, Megan T. Cho, Addie I. Nesbitt, Ping Yee Billie Au, Amber Begtrup, John Bernat, Lynne M. Bird, Kajia Cao, Arjan P.M. de Brouwer, Elizabeth Denenberg, Ganka Douglas, Kristin McDonald Gibson, Katheryn Grand, Alice Goldenberg, A. Micheil Innes, Jane Juusola, Marlies Kempers, Esther Kinning, David Markie, Martina Owens, Katelyn Payne, Richard Person, Rolph Pfundt, Amber Stocco, Claire Turner, Nienke E. Verbeek, Laurence E. Walsh, Taylor Warner, Patricia G. Wheeler, Dagmar Wieczorek, Alisha Wilkens, Evelien Zonneveld‐Huijssoon, Tjitske Kleefstra, Stephen P. Robertson, Avni Santani, Koen L.I. van Gassen, Matthew A. Deardorff

    出版 2017
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  4. 4
    PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

    PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome 由 Julián Nevado, Jill A. Rosenfeld, Rocío Mena, María Palomares‐Bralo, Elena Vallespín, María Ángeles Mori, Jair Tenorio, Karen W. Gripp, Elizabeth Denenberg, Miguel Del Campo, Alberto Plaja, Rubén Martín‐Arenas, Fernando Santos‐Simarro, Lluı́s Armengol, Gordon C. Gowans, María Orera, M Carmen Sanchez-Hombre, Esther Corbacho-Fernández, Alberto Fernández‐Jaén, Chad R. Haldeman‐Englert, Sulagna C. Saitta, Holly Dubbs, Duban B Bénédicte, Xia Li, Lani Devaney, Mary Beth Dinulos, Stephanie E. Vallee, M. Carmen Crespo, Blanca Fernández, Victoria E Fernández-Montaño, Inmaculada Rueda‐Arenas, María Torres, Jay W. Ellison, Salmo Raskin, Carlos Venegas-Vega, Fernando Fernández‐Ramírez, Alicia Delicado, Sixto García‐Miñaúr, Pablo Lapunzina

    出版 2015
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