Hasil Pencarian - Kristin Monaghan

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  1. 1
    P583: Four cases of mosaic triploidy identified by trio exome sequencing

    P583: Four cases of mosaic triploidy identified by trio exome sequencing oleh Wei Wang, Lindsay Henderson, Julie Scuffins, Lisa Dyer, Lindsay Havens Dyer, Ganka Douglas, Kristin Monaghan, Michelle Morrow, Ludmila Matyakhina

    Diterbitkan 2023-01-01
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  2. 2
    First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children

    First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children oleh Danika Nadeen Senanayake, Eresha. A. Jasinge, Kirit Pindolia, Jithangi Wanigasinghe, Kristin Monaghan, Sharon F. Suchy, Sainan Wei, Subashini Jaysena, Barry Wolf

    Diterbitkan 2015-03-01
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  3. 3
    Corrigendum to “First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children” [Mol. Genet. Metab. Rep. 2 (2016) 81–84]

    Corrigendum to “First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children” [Mol. Genet. Metab. Rep. 2 (2016) 81–84] oleh Danika Nadeen Senanayake, Eresha A. Jasinge, Kirit Pindolia, Jithangi Wanigasinghe, Kristin Monaghan, Sharon F. Suchy, Sainan Wei, Subashini Jaysena, Barry Wolf

    Diterbitkan 2017-06-01
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  4. 4
    P672: Commercial cystic fibrosis carrier screening tests and coverage of the ACMG 100 recommended variants

    P672: Commercial cystic fibrosis carrier screening tests and coverage of the ACMG 100 recommended variants oleh Timothy Tidwell, Anthony Gregg, Wayne Grody, Michael Guo, Hutton Kearney, Kristin Monaghan, Jennifer Taylor, Cinthya Zepeda Mendoza, Catherine Ziats, Joshua Deignan, Karen Raraigh

    Diterbitkan 2024-01-01
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  5. 5
    O35: Feasibility of expanded newborn screening using genome sequencing for early actionable conditions in a diverse city

    O35: Feasibility of expanded newborn screening using genome sequencing for early actionable conditions in a diverse city oleh Wendy Chung, Alban Ziegler, Carrie Koval-Burt, Denise Kay, Sharon Suchy, Amber Bergtrup, Katherine Langley, Laura Amendola, Brenna Boyd, Jennifer Bradley, Tracy Brandt, Lilian Cohen, Alison Coffey, Joseph Devaney, Beata Dygulska, Bethany Friedman, Ramsey Fuleihan, Awura Gyimah, Rebecca Hernan, Sean Hofherr, Kathleen Hruska, Zhanzhi Hu, Mederic Jeanne, Guanjun Jin, Aaron Johnson, Haluk Kavus, Rudolph Leibel, Kirsty McWalter, Kristin Monaghan, Nicole Pimentel Soler, Yeyson Quevedo, Samantha Ratner, Kyle Retterer, Natasha Shapiro, Robert Sicko, Samuel Storm, Rebecca Torene, Olatundun Williams, Julia Wynn, Ryan Taft, Paul Kruszka, Michele Caggana

    Diterbitkan 2024-01-01
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