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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Public Health Genomics Branch
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Precision Health Database
Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: May 18, 2024
. (Total: 63881 Documents since 2012)
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Records 1 - 9 (of 9 Records)
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Genetic errors of immunity distinguish pediatric non-malignant lymphoproliferative disorders.
Forbes Lisa R et al. The Journal of allergy and clinical immunology 2021
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Clinico-laboratory profile and perforin gene mutations of pediatric hemophagocytic lymphohistiocytosis cases: a five-year single center study.
Almalky Mohamed Abdelkader et al. The Pan African medical journal 2020 36354
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A Cry for the Development of Newborn Screening for Familial Hemophagocytic Lymphohistiocytosis.
Hoshino Akihiro et al. Journal of clinical immunology 2020 Sep
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Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
Gadoury-Levesque Vanessa et al. Blood advances 2020 Jun 4(12) 2578-2594
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Application of detection of mutations in blood and immunodeficiency genes in the diagnosis of HLH patients.
Mo Wenyuan et al. Experimental hematology 2019 Sep
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The clinical and laboratory evaluation of familial hemophagocytic lymphohistiocytosis and the importance of hepatic and spinal cord involvement: a single center experience.
Beken Burcin et al. Haematologica 2018 103(2) 231-236
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[Using target next-generation sequencing assay in diagnosing of 46 patients with suspected congenital anemias].
Li Y et al. Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2018 May 39(5) 414-419
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Perforin and CD107a testing is superior to NK cell function testing for screening patients for genetic HLH.
Rubin Tamar S et al. Blood 2017 Jun 129(22) 2993-2999
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How can precision medicine help children with cancer?
By Srivani Ravoori, Cancer Research Catalyst Blog, Jul 29
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 18, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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