Search Results - "Mcmanus, Morgan L"

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    The experience of one pediatric geneticist with telemedicine‐based clinical diagnosis by Campbell, Ian M., Crowley, T. Blaine, Keena, Beth, Donoghue, Sarah, McManus, Morgan L., Zackai, Elaine H.

    “…Telemedicine has long been considered as an attractive alternative methodology in clinical genetics to improve patient access and convenience. Given the…”
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    Journal Article
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    TOPORS as a novel causal gene for Joubert syndrome by Strong, Alanna, Qu, Hui‐Qi, Cullina, Sinéad, McManus, Morgan L., Zackai, Elaine H., Glessner, Joseph, Kenny, Eimear E., Hakonarson, Hakon

    “…Joubert syndrome (JBTS) is a Mendelian disorder of the primary cilium defined by the clinical triad of hypotonia, developmental delay, and a distinct…”
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    Journal Article