Hasil Pencarian - Laura Conlin

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  1. 1
    P621: Benchmarking phenotype-driven variant prioritization algorithms demonstrates low sensitivity for diagnosing rare Mendelian disorders in pediatric patients

    P621: Benchmarking phenotype-driven variant prioritization algorithms demonstrates low sensitivity for diagnosing rare Mendelian disorders in pediatric patients oleh Matt Aruta, Jard Knoblauch, Tanaya Jadhav, Emily Xiong, Yue Xing, Laura Conlin, Ramakrishnan Rajagopalan

    Diterbitkan 2024-01-01
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  2. 2
    P830: Detection and quantification of multiple deletions in mitochondria and heteroplasmy levels using PacBio long read sequencing

    P830: Detection and quantification of multiple deletions in mitochondria and heteroplasmy levels using PacBio long read sequencing oleh Tanaya Jadhav, Avery Zucco, Matt Aruta, Matthew Dulik, Laura Conlin, Ramakrishnan Rajagopalan, Jing Wang

    Diterbitkan 2024-01-01
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  3. 3
    P623: Cytogenetic findings in a clinical next generation sequencing panel for very early onset inflammatory bowel disease

    P623: Cytogenetic findings in a clinical next generation sequencing panel for very early onset inflammatory bowel disease oleh Hadia Hijazi, Tamara Luke, Kieran Pechter, Archana Tare, Kajia Cao, Laura Conlin, Judith Kelsen, Nancy Spinner, Yavuz Bayram

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  4. 4
    P485: Evaluating novel dosage sensitivity predictors for inclusion in the classification of recurrent copy number variants

    P485: Evaluating novel dosage sensitivity predictors for inclusion in the classification of recurrent copy number variants oleh John Herriges, Cassandra Runke, Zoe Lewis, Lucilla Pizzo, Bradley Coe, Laura Conlin, Benjamin Hilton, Brynn Levy, Andrea Vaags, Shulin Zhang, Christa Martin, Erica Andersen

    Diterbitkan 2023-01-01
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  5. 5
    Kagami Ogata syndrome: a small deletion refines critical region for imprinting

    Kagami Ogata syndrome: a small deletion refines critical region for imprinting oleh Gonench Kilich, Kelly Hassey, Edward M. Behrens, Marni Falk, Adeline Vanderver, Daniel J. Rader, Patrick J. Cahill, Anna Raper, Zhe Zhang, Dawn Westerfer, Tanaya Jadhav, Laura Conlin, Kosuke Izumi, Ramakrishnan Rajagopalan, Kathleen E. Sullivan, UDN Consortium

    Diterbitkan 2024-01-01
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  6. 6
    P532: Development, implementation, and preliminary results of rapid targeted genomic analysis in the newborn period

    P532: Development, implementation, and preliminary results of rapid targeted genomic analysis in the newborn period oleh Emma Bedoukian, Sara Reichert, Elizabeth DeChene, Alexandra Heck, Jennifer Hershey, Morgan McManus, Michelle Marchese, Surabhi Mulchandani, Francis Jeshira Reynoso Santos, K. Taylor Wild, Kathleen Wood, Laura Conlin, Matthew Dulik, Ramakrishnan Rajagopalan, Nancy Spinner, Ian Krantz

    Diterbitkan 2024-01-01
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  7. 7
    O31: Risk allele evidence curation, classification, and reporting: Recommendations from the ClinGen Low Penetrance/Risk Allele Working Group*

    O31: Risk allele evidence curation, classification, and reporting: Recommendations from the ClinGen Low Penetrance/Risk Allele Working Group* oleh Matthew Lebo, Marcie Steeves, Katherine Benson, Laura Conlin, Mythily Ganapathi, Vaidehi Jobanputra, Minjie Luo, Deqiong Ma, Kelly McGoldrick, Blake Palculict, Heidi Rehm, Panagiotis Sergouniotis, Samantha Schilit, Pinar Bayrak-Toydemir, Tatiana Tvrdik, Nicholas Watkins, Lauren Zec, Wenying Zhang Zhang, Ryan Schmidt

    Diterbitkan 2023-01-01
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  8. 8
    O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects

    O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects oleh Cherith Somerville, Ersa Erkut, Marci Schwartz, Xin Chen, Roozbeh Manshaei, Qiliang Ding, Karin Diderich, Lisa Herzig, Bri Dingmann, Chloe Quelin, Véronique Pingault, Christèle Dubourg, Joana Rosmaninho Salgado, Sérgio Sousa, Daniel Koboldt, Rachel Gosselin, Kim McBride, Maria Arvio, Irma Järvelä, Isabelle Schrauwen, Laura Conlin, Cara Skraban, Sara Reichert, Jacqueline Leonard, Emma Bedoukian, Raymond Kim, Ian Scott, Rebekah Jobling

    Diterbitkan 2024-01-01
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