Hasil Pencarian - Najla Al-Sweel

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  1. 1
    P450: The elephant in the shROOM: Evidence for SHROOM4 in disease remains limited and conflicting

    P450: The elephant in the shROOM: Evidence for SHROOM4 in disease remains limited and conflicting oleh Jullianne Diaz, Megan Martin, Najla Al-Sweel

    Diterbitkan 2023-01-01
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  2. 2
    mlh3 mutations in baker's yeast alter meiotic recombination outcomes by increasing noncrossover events genome-wide.

    mlh3 mutations in baker's yeast alter meiotic recombination outcomes by increasing noncrossover events genome-wide. oleh Najla Al-Sweel, Vandana Raghavan, Abhishek Dutta, V P Ajith, Luigi Di Vietro, Nabila Khondakar, Carol M Manhart, Jennifer A Surtees, K T Nishant, Eric Alani

    Diterbitkan 2017-08-01
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  3. 3
    Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging

    Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging oleh Priti Singh, Robert Fragoza, Cecilia S. Blengini, Tina N. Tran, Gianno Pannafino, Najla Al-Sweel, Kerry J. Schimenti, Karen Schindler, Eric A. Alani, Haiyuan Yu, John C. Schimenti

    Diterbitkan 2021-08-01
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  4. 4
    P665: Recommendations for the improvement of diagnostic yields in rare disease cases through the integration of structural variants into analytical pipelines

    P665: Recommendations for the improvement of diagnostic yields in rare disease cases through the integration of structural variants into analytical pipelines oleh Thomas Nicholas, Andrew Farrell, Shawn Rynearson, Carson Holt, Steven Boyden, Barry Moore, Najla Al-Sweel, Christine Miller, Lucilla Pizzo, Chelsea Solorzano, Rachel Palmquist, Ashley Andrews, Rong Mao, Pinar Bayrak-Toydemir, Eric Fredrickson, Katherine Noble, Brian Shayota, Joshua Bonkowsky, John Carey, Sabrina Malone-Jenkins, Lorenzo Botto, Aaron Quinlan

    Diterbitkan 2023-01-01
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  5. 5
    Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia

    Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia oleh Thomas J. Nicholas, Najla Al‐Sweel, Andrew Farrell, Rong Mao, Pinar Bayrak‐Toydemir, Christine E. Miller, Dawn Bentley, Rachel Palmquist, Barry Moore, Edgar J. Hernandez, Michael J. Cormier, Eric Fredrickson, Katherine Noble, Shawn Rynearson, Carson Holt, Mary Anne Karren, Joshua L. Bonkowsky, Martin Tristani‐Firouzi, Mark Yandell, Gabor Marth, Aaron R. Quinlan, Luca Brunelli, Reha M. Toydemir, Brian J. Shayota, John C. Carey, Steven E. Boyden, Sabrina Malone Jenkins

    Diterbitkan 2022-04-01
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  6. 6
    P243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care

    P243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care oleh Sabrina Malone-Jenkins, Brian Shayota, Chelsea Solorzano, Rachel Palmquist, Steven Boyden, Barry Moore, Thomas Nicholas, Rong Mao, Pinar Bayrak-Toydemir, Katherine Noble, Andrew Farrell, Edgar Hernandez, Shawn Rynearson, Carson Holt, Alistair Ward, Najla Al-Sweel, Jian Zhao, Makenzie Fulmer, Lucilla Pizzo, Ting Wen, John O'Shea, Robert Lewis, Hayley Reynolds, Eric Fredrickson, Kelsey Nicholson, David Pattison, Hunter Best, Luca Brunelli, Mark Yandell, Gabor Marth, Aaron Quinlan, John Carey, Martin Tristani-Firouzi, Joshua Bonkowsky

    Diterbitkan 2023-01-01
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