Hasil Pencarian - Austin Larson

  • Menampilkan 1 - 6 hasil dari 6
Perbaiki Hasil
  1. 1
    Skeletal Health in Patients With Mitochondrial Diabetes: Case Series and Review of Literature

    Skeletal Health in Patients With Mitochondrial Diabetes: Case Series and Review of Literature oleh Kagan Ege Karakus, Varun Suryadevara, Austin Larson, Prathosh Gangadhar, Viral N Shah

    Diterbitkan 2023-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  2. 2
    Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting

    Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting oleh Lauren Thompson, Austin Larson, Austin Larson, Lisa Salz, Regan Veith, John-Paul Tsai, Anuj Jayakar, Rachel Chapman, Rachel Chapman, Apeksha Gupta, Stephen F. Kingsmore, David Dimmock, Alan Bedrick, Alan Bedrick, Maureen Kelly Galindo, Kari Casas, Mohamed Mohamed, Lisa Straight, M. Akram Khan, Daria Salyakina

    Diterbitkan 2024-02-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  3. 3
    P595: Novel molecular mechanism in Malan syndrome uncovered through detailed genome sequencing reanalysis, exon-level array and RNA-seq

    P595: Novel molecular mechanism in Malan syndrome uncovered through detailed genome sequencing reanalysis, exon-level array and RNA-seq oleh Jian Zhao, Nicola Longo, Robert Lewis, Thomas Nicholas, Steven Boyden, Ashley Andrews, Austin Larson, Pinar Bayrak-Toydemir, Lorenzo Botto, Rong Mao

    Diterbitkan 2023-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  4. 4
    O20: Beyond the genome: RNA sequencing resolves unique diagnostic challenges

    O20: Beyond the genome: RNA sequencing resolves unique diagnostic challenges oleh Robert Lewis, Makenzie Fulmer, Jian Zhao, Lucilla Pizzo, Ting Wen, John O'Shea, Thomas Nicholas, Steven Boyden, David Viskochil, Nicola Longo, Ashley Andrews, Erin Baldwin, Matt Velinder, Russell Butterfield, Karin Dent, Kourtney Santucci, Austin Larson, Rong Mao, Lorenzo Botto, Pinar Bayrak-Toydemir

    Diterbitkan 2024-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    P142: Efficacy, safety and tolerability of chenodeoxycholic acid in adult patients with cerebrotendinous xanthomatosis (RESTORE): A randomized, placebo-controlled phase 3 study*

    P142: Efficacy, safety and tolerability of chenodeoxycholic acid in adult patients with cerebrotendinous xanthomatosis (RESTORE): A randomized, placebo-controlled phase 3 study* oleh Andrea DeBarber, Yaz Kisanuki, Paulo Nobrega, Ryan Himes, Suman Jayadev, John Bernat, Vikram Prakash, James Gibson, Austin Larson, Paulo Sgobbi, Edward Murphy, Brian Fedor, Cheryl Wong Po Foo, Rana Dutta, Michael Imperiale, Jolan Terner-Rosenthal, Will Garner, Pamela Vig, P. Barton Duell, Sarah Perez, Ritesh Ramdhani, Jonas Saute

    Diterbitkan 2024-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  6. 6
    Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

    Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. oleh Michael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, Samantha Penney, Timothy Moss, Atul Chopra, Frank J Probst, Fan Xia, Yaping Yang, Steven Werlin, Ieva Eglite, Liene Kornejeva, Carlos A Bacino, Dustin Baldridge, Jeff Neul, Efrat Lev Lehman, Austin Larson, Joke Beuten, Donna M Muzny, Shalini Jhangiani, Baylor-Hopkins Center for Mendelian Genomics, Richard A Gibbs, James R Lupski, Arthur Beaudet

    Diterbitkan 2014-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: