Search Results - Jennifer M. Mueller

  • Showing 1 - 5 results of 5
Refine Results
  1. 1
    TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy

    TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy by Austin Larson, Peter R. Baker, Miroslav P. Milev, Craig A. Press, Ronald J. Sokol, Mary O. Cox, Jacqueline K. Lekostaj, Aaron A. Stence, Aaron Bossler, Jennifer M. Mueller, Keshika Prematilake, Thierry Fotsing Tadjo, Charles A. Williams, Michael Sacher, Steven A. Moore

    Published 2018
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  2. 2
    Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions

    Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions by Christian P. Schaaf, Philip M. Boone, Srirangan Sampath, Charles A. Williams, Patricia I. Bader, Jennifer M. Mueller, Oleg A. Shchelochkov, Chester Brown, Heather P. Crawford, James A. Phalen, Nicole Tartaglia, Patricia Evans, William M. Campbell, Anne Chun‐Hui Tsai, Lea Parsley, Stephanie W Grayson, Angela E. Scheuerle, Carol D Luzzi, Sandra K Thomas, Patricia A. Eng, Sung-Hae L. Kang, Ankita Patel, Paweł Stankiewicz, Sau Wai Cheung

    Published 2012
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  3. 3
    <i>ZC4H2</i>, an XLID gene, is required for the generation of a specific subset of CNS interneurons

    <i>ZC4H2</i>, an XLID gene, is required for the generation of a specific subset of CNS interneurons by Melanie May, Kyu-Seok Hwang, Judith H. Miles, Charlie Williams, Tejasvi Niranjan, Stephen G. Kahler, Pietro Chiurazzi, Katharina Steindl, Peter J. van der Spek, Sigrid Swagemakers, Jennifer M. Mueller, Shannon Stefl, Emil Alexov, Jeong-Im Ryu, Jung-Hwa Choi, Hyun-Taek Kim, Patrick Tarpey, Giovanni Neri, Lynda Holloway, Cindy Skinner, Roger E. Stevenson, Richard I. Dorsky, Tao Wang, Charles E. Schwartz, Cheol‐Hee Kim

    Published 2015
    Get full text
    Artigo
    Save to List
    Saved in:
  4. 4
    Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems

    Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems by Melissa B. Ramocki, Magdalena Bartnik, Przemysław Szafrański, Katarzyna Kołodziejska, Zhilian Xia, Jaclyn Bravo, G. Steve Miller, Diana L. Rodríguez, Charles A. Williams, Patricia I. Bader, Elżbieta Szczepanik, Tomasz Mazurczak, Dorota Antczak‐Marach, James G. Coldwell, Cigdem I. Akman, Karen McAlmon, Melinda Cohen, James McGrath, Elizabeth Roeder, Jennifer M. Mueller, Sung‐Hae Kang, Carlos A. Bacino, Ankita Patel, Ewa Bocian, Chad A. Shaw, Sau Wai Cheung, Tadeusz Mazurczak, Paweł Stankiewicz

    Published 2010
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  5. 5
    Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

    Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification by Sandy Hsu, Renee Sears, Roberta R. Lemos, Beatriz Quintáns, Alden Huang, Elizabeth Spiteri, Lisette Nevarez, Catherine Mamah, Mayana Zatz, Kerrie D. Pierce, Janice M. Fullerton, John C. Adair, Jon Berner, Matthew Bower, Henry Brodaty, Olga Carmona, Valerija Dobričić, Brent L. Fogel, Daniel García-Estevez, Jill Goldman, John L. Goudreau, Suellen Hopfer, Milena Janković, Serge Jaumà, Joanna C. Jen, Suppachok Kirdlarp, Joerg Klepper, Vladimir Kostić, Anthony E. Lang, Agnès Linglart, Melissa K. Maisenbacher, Bala V. Manyam, Pietro Mazzoni, Z Miedzybrodzka, Witoon Mitarnun, Philip B. Mitchell, Jennifer M. Mueller, Ivana Novaković, Martin Paucar, Henry L. Paulson, Sheila A Simpson, Per Svenningsson, Paul Tuite, Jerrold L. Vitek, Suppachok Wetchaphanphesat, Charles A. Williams, Michele Yang, Peter R. Schofield, João Ricardo Mendes de Oliveira, María-Jesús Sobrido, Daniel H. Geschwind, Giovanni Coppola

    Published 2013
    Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: