Search Results - "Murphy, Kady"
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A clinicopathologic study of malignancy in VCP-associated multisystem proteinopathy
Published in Orphanet journal of rare diseases (15-07-2022)“…Valosin containing protein (VCP) is an important protein with many vital functions mostly related to the ubiquitin-proteasome system that provides protein…”
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Journal Article -
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Experiences of Women Receiving Failed Non-Invasive Prenatal Testing (NIPT) Results [13K]
Published in Obstetrics and gynecology (New York. 1953) (01-05-2020)“…INTRODUCTION: Non-invasive prenatal testing (NIPT) usually returns a result; however, a small percentage of samples are reported as “no results”. This study…”
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Journal Article -
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Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data
Published in American journal of medical genetics. Part A (01-05-2024)“…Data science methodologies can be utilized to ascertain and analyze clinical genetic data that is often unstructured and rarely used outside of patient…”
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Journal Article