Showing 1 - 8 results of 8 for search 'Alpa Sidhu', query time: 0.03s Refine Results
  1. 1
    Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review

    Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review by Khaliunaa Bayanbold, Georgianne Younger, Benjamin Darbro, Alpa Sidhu

    Published 2023-01-01
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  2. 2
    P334: Not all severe combined immunodeficiency patients are created equal and when rapid genetic testing matters

    P334: Not all severe combined immunodeficiency patients are created equal and when rapid genetic testing matters by Moon Ley Tung, Karin Panzer, Nicole Safina, Alpa Sidhu

    Published 2023-01-01
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  3. 3
    P085: Discrepant germline genetic testing for inherited bone marrow failure syndrome in a patient with myelodysplastic syndrome

    P085: Discrepant germline genetic testing for inherited bone marrow failure syndrome in a patient with myelodysplastic syndrome by Moon Ley Tung, Jennifer Stinson, Athena Puski, Kyle Dillahunt, Alpa Sidhu

    Published 2023-01-01
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  4. 4
    Interstitial duplication of 8q22.1‐q23.1‐ A case report and review of the literature

    Interstitial duplication of 8q22.1‐q23.1‐ A case report and review of the literature by Steven Leary, Harry S. Porterfield, Jaclyn R. Kotlarek, Benjamin W. Darbro, Alpa Sidhu

    Published 2019-12-01
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  5. 5
    Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report

    Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report by Moon Ley Tung, Bharatendu Chandra, Kyle Dillahunt, Matthew D. Gosse, T. Shawn Sato, Alpa Sidhu

    Published 2022-07-01
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  6. 6
    Pre-pregnancy exposure to arsenic in diet and non-cardiac birth defects

    Pre-pregnancy exposure to arsenic in diet and non-cardiac birth defects by Jonathan Suhl, Kristin M Conway, Anthony Rhoads, Peter H Langlois, Marcia L Feldkamp, Adrian M Michalski, Jacob J Oleson, Alpa Sidhu, Vijaya Kancherla, John Obrycki, Maitreyi Mazumdar, Paul A Romitti, the National Birth Defects Prevention Study

    Published 2023-03-01
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  7. 7
    Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3

    Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 by Divya Nair, Dong Li, Hannah Erdogan, Andrew Yoon, Margaret H. Harr, Gaber Bergant, Borut Peterlin, Maruša Škrjanec Pušenjak, Parul Jayakar, Rolph Pfundt, Sandra Jansen, Kirsty McWalter, Alpa Sidhu, Sheila Saliganan, Emanuele Agolini, Arthur Jacob, Jennifer Pasquier, Rafii Arash, Kimia Kahrizi, Hossein Najmabadi, Hans-Hilger Ropers, Elizabeth J. Bhoj

    Published 2022-10-01
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  8. 8
    Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3

    Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 by Divya Nair, Dong Li, Hannah Erdogan, Andrew Yoon, Margaret H. Harr, Gaber Bergant, Borut Peterlin, Maruša Škrjanec Pušenjak, Parul Jayakar, Rolph Pfundt, Sandra Jansen, Kirsty McWalter, Alpa Sidhu, Sheila Saliganan, Emanuele Agolini, Arthur Jacob, Jennifer Pasquier, Rafii Arash, Kimia Kahrizi, Hossein Najmabadi, Hans-Hilger Ropers, Elizabeth J. Bhoj

    Published 2021-04-01
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