Search Results - Neil Friedman

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    P766: The utility of runs of homozygosity in the identification of pathogenic variants in individuals with rare diseases by Theru Sivakumaran, Bilal Azab, Emily Hershman, Ananditha Sivakumaran, Neil Friedman, Dannah Raz, Derek Neilson, Theresa Grebe

    Published in Genetics in Medicine Open (2025-01-01)
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  2. 2

    A devastating case of a Balamuthia mandrillaris pediatric brain infection by Kathryn A. Szymanski, BS, Michael S. Kuwabara, MD, Neil Friedman, MBChB, Cory M. Pfeifer, MD, MBA, MPH, MS, FAAP

    Published in Radiology Case Reports (2024-09-01)
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  3. 3

    Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea by Jun Liao, Keith A. Coffman, Joseph Locker, Quasar S. Padiath, Bruce Nmezi, Robyn A. Filipink, Jie Hu, Malini Sathanoori, Suneeta Madan‐Khetarpal, Marianne McGuire, Allison Schreiber, Rocio Moran, Neil Friedman, Lori Hoffner, Aleksandar Rajkovic, Svetlana A. Yatsenko, Urvashi Surti

    Published in Molecular Genetics & Genomic Medicine (2021-04-01)
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