检索结果 - Luis Rohena

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  1. 1
    Mutation in<i>SNAP25</i>as a novel genetic cause of epilepsy and intellectual disability

    Mutation in<i>SNAP25</i>as a novel genetic cause of epilepsy and intellectual disability 由 Luis Rohena, Julie Neidich, Megan Truitt Cho, Kelly Gonzalez, Sha Tang, Orrin Devinsky, Wendy K. Chung

    出版 2013
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  2. 2
    Mutations in the Cholesterol Transporter Gene ABCA5 Are Associated with Excessive Hair Overgrowth

    Mutations in the Cholesterol Transporter Gene ABCA5 Are Associated with Excessive Hair Overgrowth 由 Gina M. DeStefano, Mazen Kurban, Kwame Anyane‐Yeboa, Claudia Dall’Armi, Gilbert Di Paolo, Heather Feenstra, Nanette B. Silverberg, Luis Rohena, Larissa Dorina López-Cepeda, Vaidehi Jobanputra, Katherine A. Fantauzzo, Maija Kiuru, Marija Tadin‐Strapps, Antonio Sobrino, Anna Vitebsky, Dorothy Warburton, Brynn Levy, Julio C. Salas‐Alanís, Angela M. Christiano

    出版 2014
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  3. 3
    Defining the clinical phenotype of Saul–Wilson syndrome

    Defining the clinical phenotype of Saul–Wilson syndrome 由 Carlos R. Ferreira, Wadih M. Zein, Laryssa A. Huryn, Andrea Merker, Seth Berger, William G. Wilson, George E. Tiller, Lynne A. Wolfe, Melissa A. Merideth, Daniel R. Carvalho, Angela L. Duker, Heiko Bratke, Marte G. Haug, Luis Rohena, Hanne Hove, Zhi‐Jie Xia, Bobby G. Ng, Hudson H. Freeze, Melissa Gabriel, Alvaro H. Serrano Russi, Lauren Brick, Mariya Kozenko, Dawn Earl, Emma Tham, Gen Nishimura, John A. Phillips, William A. Gahl, Rizwan Hamid, Andrew P. Jackson, Giedre Grigelioniené, Michael B. Bober

    出版 2020
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  4. 4
    FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

    FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants 由 Diana Mitter, Milka Pringsheim, Marc Kaulisch, Kim Sarah Plümacher, Simone Schröder, Rita Warthemann, Rami Abou Jamra, Martina Baethmann, Thomas Bast, Hans-Martin Büttel, Julie S. Cohen, Elizabeth Conover, Carolina Courage, Angelika Eger, Ali Fatemi, Theresa A. Grebe, Natalie Hauser, Wolfram Heinritz, Katherine L. Helbig, Marion Heruth, Dagmar Huhle, Karen Höft, Stephanie Karch, Gerhard Kluger, Georg Christoph Korenke, Johannes R. Lemke, Richard E. Lutz, Steffi Patzer, Isabelle Prehl, Konstanze Hoertnagel, Keri Ramsey, Tina Rating, Angelika Rieß, Luis Rohena, Mareike Schimmel, Rachel Westman, Frank-Martin Zech, Barbara Zoll, Dörthe Malzahn, Birgit Zirn, Knut Brockmann

    出版 2017
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  5. 5
    De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

    De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females 由 Elizabeth E. Palmer, Till Stuhlmann, Stefanie Weinert, Eric Haan, Hilde Van Esch, Maureen Holvoet, Jackie Boyle, Melanie Leffler, Martine Raynaud, Claude Moraine, Hans van Bokhoven, Tjitske Kleefstra, Kimia Kahrizi, Hossein Najmabadi, H‐H Ropers, Mauricio R. Delgado, Deepa Sirsi, Sailaja Golla, Annemarie Sommer, Marguerite Pietryga, Wendy K. Chung, Julia Wynn, Luis Rohena, Erika Bernardo, Damara R. Hamlin, Brian M. Faux, Dorothy K. Grange, Linda Manwaring, John Tolmie, Shelagh Joss, Jan M. Cobben, Floor A.M. Duijkers, Jessica Goehringer, Thomas D. Challman, Friederike Hennig, Utz Fischer, Acadia L. Grimme, Vanessa Suckow, Luciana Musante, J. Nicholl, M Shaw, Suhrid Lodh, Zhiyv Niu, Jill A. Rosenfeld, Paweł Stankiewicz, Thomas J. Jentsch, Jozef Gécz, Michael Field, Vera M. Kalscheuer

    出版 2016
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  6. 6
    A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

    A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation 由 Carlos R. Ferreira, Zhi‐Jie Xia, Aurélie Clément, David Parry, Mariska Davids, Fulya Taylan, Prashant Sharma, Coleman Turgeon, Bernardo Blanco‐Sánchez, Bobby G. Ng, Clare V. Logan, Lynne A. Wolfe, Benjamin D. Solomon, Megan T. Cho, Ganka Douglas, Daniel R. Carvalho, Heiko Bratke, Marte G. Haug, Jennifer B. Phillips, Jeremy Wegner, Michael Tiemeyer, Kazuhiro Aoki, Ann Nordgren, Anna Hammarsjö, Angela L. Duker, Luis Rohena, Hanne Hove, Jakob Ek, David R. Adams, Cynthia J. Tifft, Tito Onyekweli, Tara Weixel, Ellen F. Macnamara, Kelly Radtke, Zöe Powis, Dawn Earl, Melissa Gabriel, Alvaro H. Serrano Russi, Lauren Brick, Mariya Kozenko, Emma Tham, Kimiyo Raymond, John A. Phillips, George E. Tiller, William G. Wilson, Rizwan Hamid, May Christine V. Malicdan, Gen Nishimura, Giedre Grigelioniené, Andrew P. Jackson, Monte Westerfield, Michael B. Bober, William A. Gahl, Hudson H. Freeze

    出版 2018
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  7. 7
    De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

    De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome 由 Jung‐Hyun Kim, Deepali N. Shinde, Margot R.F. Reijnders, Natalie Hauser, Rebecca L. Belmonte, G. R. Wilson, Daniëlle G.M. Bosch, Paula A. Bubulya, Vandana Shashi, Slavé Petrovski, Joshua K. Stone, Eun Young Park, Joris A. Veltman, Margje Sinnema, Connie T. R. M. Stumpel, Jos Draaisma, Joost Nicolai, Helger G. Yntema, Kristin Lindstrom, Bert B.A. de Vries, Tamison Jewett, Stephanie L. Santoro, Julie Vogt, Kristine Bachman, Andrea Seeley, Alyson Krokosky, Clesson Turner, Luis Rohena, Maja Hempel, Fanny Kortüm, Davor Lessel, Axel Neu, Tim M. Strom, Dagmar Wieczorek, Nuria C. Bramswig, Franco Laccone, Jana Behunova, Helga Rehder, Christopher T. Gordon, Marlène Rio, Serge Romana, Sha Tang, Dima El‐Khechen, Megan T. Cho, Kirsty McWalter, Ganka Douglas, Berivan Baskin, Amber Begtrup, Tara Funari, Kelly Schoch, Alexander P.A. Stegmann, Servi J.C. Stevens, Dong‐Er Zhang, David Traver, Xu Yao, Daniel G. MacArthur, Han G. Brunner, Grazia M.S. Mancini, R Myers, Laurie B. Owen, Ssang‐Taek Lim, David L. Stachura, Lisenka E.L.M. Vissers, E. Ahn

    出版 2016
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  8. 8
    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome 由 Sarah E. Sheppard, Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson, Julie S. Cohen, Jill A. Fahrner, Ali Fatemi, Jacqueline Harris, C. Nowak, Cathy A. Stevens, Katheryn Grand, Margaret Au, John M. Graham, Pedro A. Sanchez‐Lara, Miguel Del Campo, Marilyn C. Jones, Omar Abdul‐Rahman, Fowzan S. Alkuraya, Jennifer A. Bassetti, Katherine Bergstrom, Elizabeth Bhoj, Sarah Dugan, Julie Kaplan, Nada Derar, Karen W. Gripp, Natalie Hauser, A. Micheil Innes, Beth Keena, Neslida Kodra, Rebecca L. Miller, Beverly Nelson, Małgorzata J.M. Nowaczyk, Zuhair Rahbeeni, Shay Ben‐Shachar, Joseph T.C. Shieh, Anne Slavotinek, Andrew K. Sobering, Mary‐Alice Abbott, Dawn C. Allain, Louise Amlie‐Wolf, Ping Yee Billie Au, Emma Bedoukian, Geoffrey Beek, James S. Barry, Janet Berg, Jonathan A. Bernstein, Cheryl Cytrynbaum, Brian Hon‐Yin Chung, Sarah Donoghue, Naghmeh Dorrani, Alison Eaton, Josue A. Flores‐Daboub, Holly Dubbs, Carolyn A. Felix, Chin‐To Fong, Jasmine Lee Fong Fung, Balram Gangaram, Amy Goldstein, Rotem Greenberg, Thoa K. Ha, Joseph H. Hersh, Kosuke Izumi, Staci Kallish, Elijah Kravets, Pui‐Yan Kwok, Rebekah Jobling, Amy E. Knight Johnson, Jessica D. Kushner, Bo Hoon Lee, Brooke Levin, Kristin Lindstrom, Kandamurugu Manickam, Rebecca Mardach, Elizabeth M. McCormick, D. Ross McLeod, Frank Mentch, Kelly Q. Minks, Colleen Muraresku, Stanley F. Nelson, Patrizia Porazzi, Pavel N. Pichurin, Nina Powell‐Hamilton, Zöe Powis, Alyssa Ritter, Caleb Rogers, Luis Rohena, Carey Ronspies, Audrey Schroeder, Zornitza Stark, Lois J. Starr, Joan M. Stoler, Pim Suwannarat, Milen Velinov, Rosanna Weksberg, Yael Wilnai, Neda Zadeh, Dina J. Zand, Marni J. Falk

    出版 2021
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