Výsledky vyhledávání - Susan Sklower Brooks

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  1. 1
    Proteomic studies identified a single nucleotide polymorphism in glyoxalase I as autism susceptibility factor

    Proteomic studies identified a single nucleotide polymorphism in glyoxalase I as autism susceptibility factor Autor Mohammed Junaid, Dagmar Kowal, Madhabi Barua, Premila S. Pullarkat, Susan Sklower Brooks, Raju K. Pullarkat

    Vydáno 2004
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  2. 2
    A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans

    A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans Autor Susan Sklower Brooks, Alissa L. Wall, Christelle Golzio, David W. Reid, Amalia Kondyles, Jason R. Willer, Christina Botti, Christopher V. Nicchitta, Nicholas Katsanis, Erica E. Davis

    Vydáno 2014
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  3. 3
    Mutational Analysis of the Defective Protease in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis, a Neurodegenerative Lysosomal Storage Disorder

    Mutational Analysis of the Defective Protease in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis, a Neurodegenerative Lysosomal Storage Disorder Autor David E. Sleat, Rosalie M. Gin, István Sohár, Krystyna E. Wisniewski, Susan Sklower-Brooks, Raju K. Pullarkat, David N. Palmer, Terry J. Lerner, Rose-Mary Boustany, Peter Uldall, A. N. Siakotos, Robert Donnelly, Peter Lobel

    Vydáno 1999
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  4. 4
    New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

    New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish Autor Deborah Morris‐Rosendahl, Reeval Segel, A.P. Born, Christoph Conrad, Bart Loeys, Susan Sklower Brooks, Laura S. M. Müller, Christine Zeschnigk, Christina Botti, Ron Rabinowitz, Gökhan Uyanık, Marc‐Antoine Crocq, Uwe Kraus, Ingrid Degen, Fran Faes

    Vydáno 2010
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  5. 5
    Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females

    Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females Autor Jennifer Bain, Megan T. Cho, Aida Telegrafi, Ashley Wilson, Susan Sklower Brooks, Christina Botti, Gordon C. Gowans, Leigh Anne Autullo, Vidya Krishnamurthy, Marcia Willing, Tomi L. Toler, Bruria Ben-Zev, Orly Elpeleg, Yufeng Shen, Kyle Retterer, Kristin G. Monaghan, Wendy K. Chung

    Vydáno 2016
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  6. 6
    Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

    Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome Autor Diane Beysen, Jeroen Raes, Bart P. Leroy, Anneke Lucassen, John R.W. Yates, Jill Clayton‐Smith, Helena G. Ilyina, Susan Sklower Brooks, Sophie Christin‐Maître, Marc Fellous, J. P. Fryns, J.R. Kim, Pablo Lapunzina, Emmanuelle Lemyre, Françoise Meire, Ludwine Messiaen, Christine Oley, Miranda Splitt, James Thomson, Yves Van de Peer, Reiner A. Veitia, Anne De Paepe, Elfride De Baere

    Vydáno 2005
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  7. 7
    HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

    HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study Autor Michael J. Friez, Susan Sklower Brooks, Roger E. Stevenson, Michael Field, Monica J. Basehore, Lesley C. Adès, Courtney Sebold, Stephen J. McGee, Samantha Saxon, Cindy Skinner, Maria E. Craig, Lucy Murray, Richard J. Simensen, Ying Yzu Yap, Marie Shaw, Alison Gardner, Mark Corbett, Raman Kumar, Matthias Bosshard, Barbara van Loon, Patrick Tarpey, Fatima Abidi, Jozef Gécz, Charles E. Schwartz

    Vydáno 2016
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  8. 8
    Congenital mirror movements

    Congenital mirror movements Autor Aurélie Méneret, Christel Depienne, Florence Riant, Oriane Trouillard, Delphine Bouteiller, M. Cincotta, Pierre Bitoun, Julia Wickert, Lagroua Isabelle, Ana Westenberger, Alessandra Borgheresi, Diane Doummar, Marcello Romano, Símone Rossi, Luc Defebvre, Linda De Meırleır, Alberto J. Espay, Simona Fiori, Stephan Klebe, Chloé Quēlin, Sabine Rudnik–Schöneborn, Ghislaine Plessis, Russell C. Dale, Susan Sklower Brooks, Karolina Dzieżyc, Pierre Pollak, Jean‐Louis Golmard, Marie Vidailhet, Alexis Brice, Emmanuel Roze

    Vydáno 2014
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  9. 9
    Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability

    Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability Autor Lin Li, Mohammad Ghorbani, Monika Weisz-Hubshman, Justine Rousseau, Isabelle Thiffault, Rhonda E. Schnur, Catherine Breen, Renske Oegema, Marjan M. Weiss, Quinten Waisfisz, Sara Welner, Helen Kingston, Jordan A. Hills, Elles M. J. Boon, Lina Basel‐Salmon, Osnat Konen, Hadassa Goldberg‐Stern, Lily Bazak, Shay Tzur, Jianliang Jin, Xiuli Bi, Michael Bruccoleri, Kirsty McWalter, Megan T. Cho, Maria I. Scarano, G. Bradley Schaefer, Susan Sklower Brooks, Susan Hughes, Koen L.I. van Gassen, Johanna M. van Hagen, Tej K. Pandita, Pankaj B. Agrawal, Philippe M. Campeau, Xiang‐Jiao Yang

    Vydáno 2019
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