Showing 1 - 3 results of 3 for search 'Erin Conboy', query time: 0.01s Refine Results
  1. 1
    Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

    Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation by Erin Conboy, Filippo Vairo, Darrel Waggoner, Carole Ober, Soma Das, Radhika Dhamija, Eric W. Klee, Pavel Pichurin

    Published 2017-01-01
    Get full text
    Article
    Save to List
    Saved in:
  2. 2
    P627: Bi-allelic RAB5IF variants associated with craniofacial and skeletal anomalies: Further insights into CFSMR2 syndrome

    P627: Bi-allelic RAB5IF variants associated with craniofacial and skeletal anomalies: Further insights into CFSMR2 syndrome by Khurram Liaqat, Kayla Treat, Molly McPheron, Anne Slavotinek, Balram Gangaram, Daniel Calame, Erin Conboy, Francesco Vetrini

    Published 2025-01-01
    Get full text
    Article
    Save to List
    Saved in:
  3. 3
    P626: Enhancing ultra-rare disease diagnoses through multi-omics integration and multi-site collaboration in the Indiana University Undiagnosed Rare Disease Clinic (URDC) cohort

    P626: Enhancing ultra-rare disease diagnoses through multi-omics integration and multi-site collaboration in the Indiana University Undiagnosed Rare Disease Clinic (URDC) cohort by Khurram Liaqat, Kayla Treat, Lili Mantcheva, Marco Abreu, Tae-Hwi Schwantes-An, Kevin Booth, Marwan Tayeh, Summan Thahiem, Benjamin Helm, Brett Graham, Patrick Gillespie, Stephanie Ware, Erin Conboy, Francesco Vetrini

    Published 2025-01-01
    Get full text
    Article
    Save to List
    Saved in:

Search Tools: