Hasil Pencarian - Matthew N. Bainbridge

  • Menampilkan 1 - 7 hasil dari 7
Perbaiki Hasil
  1. 1
    Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges

    Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges oleh Laurie D. Smith, Matthew N. Bainbridge, Richard B. Parad, Arindam Bhattacharjee

    Diterbitkan 2020-04-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  2. 2
    The DNA damage repair landscape in Black women with breast cancer

    The DNA damage repair landscape in Black women with breast cancer oleh Aloran Mazumder, Athena Jimenez, Rachel E. Ellsworth, Stephen J. Freedland, Sophia George, Matthew N. Bainbridge, Svasti Haricharan

    Diterbitkan 2022-02-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  3. 3
    NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry

    NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry oleh Caroline R. Stanclift, Selina S. Dwight, Kevin Lee, Quirine L. Eijkenboom, Matt Wilsey, Kristen Wilsey, Erica Sanford Kobayashi, Sandra Tong, Matthew N. Bainbridge

    Diterbitkan 2022-12-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  4. 4
    Clinical variants in Caenorhabditis elegans expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance

    Clinical variants in Caenorhabditis elegans expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance oleh Christopher E. Hopkins, Kathryn McCormick, Trisha Brock, Matthew Wood, Sarah Ruggiero, Kolt Mcbride, Christine Kim, Jennifer A. Lawson, Ingo Helbig, Matthew N. Bainbridge

    Diterbitkan 2023-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    Approaches to long-read sequencing in a clinical setting to improve diagnostic rate

    Approaches to long-read sequencing in a clinical setting to improve diagnostic rate oleh Erica Sanford Kobayashi, Serge Batalov, Aaron M. Wenger, Christine Lambert, Harsharan Dhillon, Richard J. Hall, Primo Baybayan, Yan Ding, Seema Rego, Kristen Wigby, Jennifer Friedman, Charlotte Hobbs, Matthew N. Bainbridge

    Diterbitkan 2022-10-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  6. 6
    Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning

    Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning oleh Bennet Peterson, Edgar Javier Hernandez, Charlotte Hobbs, Sabrina Malone Jenkins, Barry Moore, Edwin Rosales, Samuel Zoucha, Erica Sanford, Matthew N. Bainbridge, Erwin Frise, Albert Oriol, Luca Brunelli, Stephen F. Kingsmore, Mark Yandell

    Diterbitkan 2023-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  7. 7
    Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

    Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy oleh Claudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, Maria Kousi, Laurie B. Griffin, Ludmila Francescatto, Burcak Ozes, Ender Karaca, Shalini N. Jhangiani, Matthew N. Bainbridge, Kim S. Lawson, Davut Pehlivan, Yuji Okamoto, Marjorie Withers, Pedro Mancias, Anne Slavotinek, Pamela J. Reitnauer, Meryem T. Goksungur, Michael Shy, Thomas O. Crawford, Michel Koenig, Jason Willer, Brittany N. Flores, Igor Pediaditrakis, Onder Us, Wojciech Wiszniewski, Yesim Parman, Anthony Antonellis, Donna M. Muzny, Nicholas Katsanis, Esra Battaloglu, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski

    Diterbitkan 2015-08-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: