Sökresultat - Vorasuk Shotelersuk

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  1. 1
    Generation and characterization of HLA-universal platelets derived from induced pluripotent stem cells

    Generation and characterization of HLA-universal platelets derived from induced pluripotent stem cells av Phatchara Norbnop, Praewphan Ingrungruanglert, Nipan Israsena, Kanya Suphapeetiporn, Vorasuk Shotelersuk

    Publicerad 2020
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  2. 2
    PDGFRa mutations in humans with isolated cleft palate

    PDGFRa mutations in humans with isolated cleft palate av Sawitree Rattanasopha, Siraprapa Tongkobpetch, Chalurmpon Srichomthong, Pichit Siriwan, Kanya Suphapeetiporn, Vorasuk Shotelersuk

    Publicerad 2012
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  3. 3
    Altered Trafficking of Lysosomal Proteins in Hermansky-Pudlak Syndrome Due to Mutations in the β3A Subunit of the AP-3 Adaptor

    Altered Trafficking of Lysosomal Proteins in Hermansky-Pudlak Syndrome Due to Mutations in the β3A Subunit of the AP-3 Adaptor av Esteban C. Dell’Angelica, Vorasuk Shotelersuk, R. Claudio Aguilar, William A. Gahl, Juan S. Bonifacino

    Publicerad 1999
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  4. 4
    Germline and Somatic<i>DICER1</i>Mutations in a Pituitary Blastoma Causing Infantile-Onset Cushing's Disease

    Germline and Somatic<i>DICER1</i>Mutations in a Pituitary Blastoma Causing Infantile-Onset Cushing's Disease av Taninee Sahakitrungruang, Chalurmpon Srichomthong, Sopon Pornkunwilai, Jiraporn Amornfa, Shanop Shuangshoti, Supasak Kulawonganunchai, Kanya Suphapeetiporn, Vorasuk Shotelersuk

    Publicerad 2014
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  5. 5
    NUDT15 c.415C&gt;T increases risk of 6-mercaptopurine induced myelosuppression during maintenance therapy in children with acute lymphoblastic leukemia

    NUDT15 c.415C&gt;T increases risk of 6-mercaptopurine induced myelosuppression during maintenance therapy in children with acute lymphoblastic leukemia av Kanhathai Chiengthong, Chupong Ittiwut, Sasipa Muensri, Jiratchaya Sophonphan, Darintr Sosothikul, P. Seksan, Koramit Suppipat, Kanya Suphapeetiporn, Vorasuk Shotelersuk

    Publicerad 2015
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  6. 6
    TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4

    TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4 av Patra Yeetong, Monnat Pongpanich, Chalurmpon Srichomthong, Adjima Assawapitaksakul, Varote Shotelersuk, Nithiphut Tantirukdham, Chaipat Chunharas, Kanya Suphapeetiporn, Vorasuk Shotelersuk

    Publicerad 2019
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  7. 7
    HLAreporter: a tool for HLA typing from next generation sequencing data

    HLAreporter: a tool for HLA typing from next generation sequencing data av Yazhi Huang, Jing Yang, Dingge Ying, Yan Zhang, Vorasuk Shotelersuk, Nattiya Hirankarn, Pak C. Sham, YL Lau, Wanling Yang

    Publicerad 2015
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  8. 8
    Carbamazepine and phenytoin induced Stevens‐Johnson syndrome is associated with HLA‐B*1502 allele in Thai population

    Carbamazepine and phenytoin induced Stevens‐Johnson syndrome is associated with HLA‐B*1502 allele in Thai population av Chaichon Locharernkul, Jakrin Loplumlert, Chusak Limotai, Wiwat Korkij, Tayard Desudchit, Siraprapa Tongkobpetch, Oratai Kangwanshiratada, Nattiya Hirankarn, Kanya Suphapeetiporn, Vorasuk Shotelersuk

    Publicerad 2008
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  9. 9
    A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28

    A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28 av Patra Yeetong, Surasawadee Ausavarat, Roongroj Bhidayasiri, Krisna Piravej, Nath Pasutharnchat, Tayard Desudchit, Chaipat Chunharas, Jakrin Loplumlert, Chusak Limotai, Kanya Suphapeetiporn, Vorasuk Shotelersuk

    Publicerad 2012
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  10. 10
    CTNS Mutations in an American-Based Population of Cystinosis Patients

    CTNS Mutations in an American-Based Population of Cystinosis Patients av Vorasuk Shotelersuk, David E. Larson, Yair Anikster, Geraldine A. McDowell, Rosemary Lemons, Isa Bernardini, Juanru Guo, Jess G. Thoene, William A. Gahl

    Publicerad 1998
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  11. 11
    Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky–Pudlak Syndrome)

    Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky–Pudlak Syndrome) av W. A. Gahl, Mark Brantly, Muriel I. Kaiser‐Kupfer, Fumino Iwata, Susan Hazelwood, Vorasuk Shotelersuk, L Duffy, Ernest M. Kuehl, James Troendle, Isa Bernardini

    Publicerad 1998
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  12. 12
    The Genomic Region Encompassing the Nephropathic Cystinosis Gene (<i>CTNS</i>): Complete Sequencing of a 200-kb Segment and Discovery of a Novel Gene within the Common Cystinosis-Causing Deletion

    The Genomic Region Encompassing the Nephropathic Cystinosis Gene (<i>CTNS</i>): Complete Sequencing of a 200-kb Segment and Discovery of a Novel Gene within the Common Cystinosis-C... av Jeffrey W. Touchman, Yair Anikster, Nicole Dietrich, Valerie V. Maduro, Geraldine A. McDowell, Vorasuk Shotelersuk, Gerard G. Bouffard, Stephen M. Beckstrom‐Sternberg, William A. Gahl, Eric D. Green

    Publicerad 2000
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  13. 13
    Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development

    Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development av Mia J. Konjikusic, Patra Yeetong, Curtis W. Boswell, Chanjae Lee, Elle C. Roberson, Rungnapa Ittiwut, Kanya Suphapeetiporn, Brian Ciruna, Christina A. Gurnett, John B. Wallingford, Vorasuk Shotelersuk, Ryan S. Gray

    Publicerad 2018
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  14. 14
    Ocular Nonnephropathic Cystinosis: Clinical, Biochemical, and Molecular Correlations

    Ocular Nonnephropathic Cystinosis: Clinical, Biochemical, and Molecular Correlations av Yair Anikster, Cynthia Lucero, Juanru Guo, Marjan Huizing, Vorasuk Shotelersuk, Isa Bernardini, Geraldine A. McDowell, Fumino Iwata, Muriel I. Kaiser‐Kupfer, Ronald Jaffe, Jess G. Thoene, Jerry A. Schneider, William A. Gahl

    Publicerad 2000
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  15. 15
    The WHO genomics program of work for equitable implementation of human genomics for global health

    The WHO genomics program of work for equitable implementation of human genomics for global health av Elena Ambrosino, Ahmad Abou Tayoun, Marc Abramowicz, Bin Alwi Zilfalil, Tiffany Boughtwood, Yosr Hamdi, Tim Hubbard, Yoshihiro Kato, Íscia Lopes‐Cendes, Partha P. Majumder, Deborah Mascalzoni, Rokhaya Ndiaye, Michèle Ramsay, Gabriela M. Repetto, Vorasuk Shotelersuk, Sherry Taylor, John C. Reeder, Anna Laura Ross

    Publicerad 2024
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  16. 16
    MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

    MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta av Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat, Siraprapa Tongkobpetch, Katja Ludin, Aileen M. Barnes, Patra Yeetong, MaryAnn Weis, Birgit Krabichler, Chalurmpon Srichomthong, Elena Makareeva, Andreas Janecke, Sergey Leikin, Benno Röthlisberger, Marianne Rohrbach, Ingo Kennerknecht, David R. Eyre, Kanya Suphapeetiporn, Cecilia Giunta, Joan C. Marini, Vorasuk Shotelersuk

    Publicerad 2016
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  17. 17
    Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome

    Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome av Quentin Hennocq, Marjolaine Willems, Jeanne Amiel, Stéphanie Arpin, Tania Attié‐Bitach, Thomas Bongibault, Thomas Bouygues, Valérie Cormier‐Daire, Pierre Corre, Klaus Dieterich, Maxime Douillet, Jean Feydy, E. Galliani, Fabienne Giuliano, Stanislas Lyonnet, Arnaud Picard, Thantrira Porntaveetus, Marlène Rio, Flavien Rouxel, Vorasuk Shotelersuk, Annick Toutain, Kévin Yauy, David Geneviève, Roman Hossein Khonsari, Nicolas Garcelon

    Publicerad 2024
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  18. 18
    A germline STAT6 gain-of-function variant is associated with early-onset allergies

    A germline STAT6 gain-of-function variant is associated with early-onset allergies av Narissara Suratannon, Chupong Ittiwut, Willem A. Dik, Rungnapa Ittiwut, Kornvalee Meesilpavikkai, Nipan Israsena, Praewphan Ingrungruanglert, Virgil A. S. H. Dalm, Paul Van Daele, Anapat Sanpavat, Nataruks Chaijitraruch, Benjamin Schrijver, Supranee Buranapraditkun, Thantrira Porntaveetus, Sigrid M.A. Swagemakers, Hanna IJspeert, Tanapat Palaga, Kanya Suphapeetiporn, Peter J. van der Spek, Nattiya Hirankarn, Pantipa Chatchatee, P. Martin van Hagen, Vorasuk Shotelersuk

    Publicerad 2022
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  19. 19
    Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International

    Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International av Domenica Taruscio, Marco Salvatore, Aimé Lumaka, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Savino Sciascia, Stephen C. Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco‐de la Paz, Vajira H. W. Dissanayake, Roberto Giugliani, Claudia Gonzaga‐Jauregui, D. Hettiarachchi, Oleg Kvlividze, Guida Landouré, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, Dario Roccatello, William A. Gahl, Samuel Agyei Wiafe, Olaf A. Bodamer, Manuel Posada de la Paz

    Publicerad 2023
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  20. 20
    A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions

    A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions av Simone Baldovino, Savino Sciascia, Claudio Carta, Marco Salvatore, Laura L. Cellai, Gianluca Ferrari, Aimé Lumaka, Stephen C. Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco‐de la Paz, Vajira H. W. Dissanayake, Roberto Giugliani, Claudia Gonzaga‐Jauregui, D. Hettiarachchi, Oleg Kvlividze, Guida Landouré, Prince Makay, Béla Melegh, Ugur Ozbek, Karaman Pagava, Ratna Dua Puri, Victor Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, Dario Roccatello, William A. Gahl, Samuel Agyei Wiafe, Olaf A. Bodamer, Manuel Posada de la Paz, Domenica Taruscio

    Publicerad 2025
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