Hasil Pencarian - Jessica Willett-Pachul

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  1. 1
    Case Report: Eosinophilic Esophagitis in a Patient With a Novel STAT1 Gain-of-Function Pathogenic Variant

    Case Report: Eosinophilic Esophagitis in a Patient With a Novel STAT1 Gain-of-Function Pathogenic Variant oleh Ori Scott, Nigel Sharfe, Nigel Sharfe, Harjit Dadi, Harjit Dadi, Linda Vong, Linda Vong, Jenny Garkaby, Laura Abrego Fuentes, Jessica Willett Pachul, Sandra Nelles, Amit Nahum, Amit Nahum, Chaim M. Roifman, Chaim M. Roifman

    Diterbitkan 2022-01-01
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  2. 2
    Homozygous duplication identified by whole genome sequencing causes LRBA deficiency

    Homozygous duplication identified by whole genome sequencing causes LRBA deficiency oleh Daniele Merico, Yehonatan Pasternak, Mehdi Zarrei, Edward J. Higginbotham, Bhooma Thiruvahindrapuram, Ori Scott, Jessica Willett-Pachul, Eyal Grunebaum, Julia Upton, Adelle Atkinson, Vy H. D. Kim, Elbay Aliyev, Khalid Fakhro, Stephen W. Scherer, Chaim M. Roifman

    Diterbitkan 2021-11-01
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  3. 3
    Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency

    Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency oleh Yehonatan Pasternak, MD, Linda Vong, PhD, Daniele Merico, PhD, Laura Abrego Fuentes, MD, Ori Scott, MD, Marina Sham, MD, Meghan Fraser, RN, Abby Watts-Dickens, CGC, Jessica Willett Pachul, RN, MN, Vy H.D. Kim, MD, MScCH, FRCPC, Christian R. Marshall, PhD, Stephen Scherer, PhD, Chaim M. Roifman, CM, MD, FRCPC, FCACB

    Diterbitkan 2024-08-01
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