Hasil Pencarian - Kristin Kernohan

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  1. 1
    P509: Resolution of variants of uncertain significance by RNA sequencing

    P509: Resolution of variants of uncertain significance by RNA sequencing oleh Aren Marshall, Giulia Del Gobbo, Yijing Liang, Madeline Couse, Kym Boycott, Kristin Kernohan

    Diterbitkan 2023-01-01
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  2. 2
    P605: RNA sequencing as a second-line test for rare disease

    P605: RNA sequencing as a second-line test for rare disease oleh Aren Marshall, Giulia Del Gobbo, Yijing Liang, Madeline Couse, Kym Boycott, Kristin Kernohan

    Diterbitkan 2024-01-01
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  3. 3
    P619: Three years of newborn screening for MPS1 in Ontario: Challenges of screening for the severe end of a disease continuum

    P619: Three years of newborn screening for MPS1 in Ontario: Challenges of screening for the severe end of a disease continuum oleh Melanie Lacaria, Matthew Henderson, Ed Yeh, Sara Fernandez, Kelsey Kalbfleisch, Kristin Kernohan, Pranesh Chakraborty

    Diterbitkan 2024-01-01
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  4. 4
    P580: Care4Rare Canada: Application of a multi-omics protocol to diagnose rare genetic disease patients at the end of standard-of-care*

    P580: Care4Rare Canada: Application of a multi-omics protocol to diagnose rare genetic disease patients at the end of standard-of-care* oleh Elisabeth Soubry, Taila Hartley, Meryl Ackers, Brenda McInnes, Emilie Théberge, Andrea Goodman, Christian Marshall, Kristin Kernohan, Kym Boycott

    Diterbitkan 2024-01-01
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  5. 5
    O36: Long-read genome sequencing in unsolved rare genetic diseases: Preliminary experiences from the Care4Rare Canada Consortium

    O36: Long-read genome sequencing in unsolved rare genetic diseases: Preliminary experiences from the Care4Rare Canada Consortium oleh Giulia Del Gobbo, Madeline Couse, Christine Lambert, Siyuan Zhang, Harsharan Dhillon, Cairbre Fanslow, William Rowell, Egor Dolzhenko, Guilherme De Sena Brandine, Michael Eberle, Christian Marshall, Kristin Kernohan, Kym Boycott

    Diterbitkan 2024-01-01
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  6. 6
    Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

    Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia oleh Jessica L. Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B. Everman, Lee M. Frazer, Michael T. Geraghty, Amy D. Harper, Julie R. Jones, Benjamin Kamien, Kristin Kernohan, Mary Kay Koenig, Matthew Lines, Elizabeth Emma Palmer, Randal Richardson, Reeval Segel, Mark Tarnopolsky, Jason R. Vanstone, Melissa Gibbons, Abigail Collins, Brent L. Fogel, Care4Rare Canada Consortium, Tracy Dudding-Byth, Kym M. Boycott

    Diterbitkan 2017-06-01
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