Found: 13
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A Novel Variant in G6PD (c.1375C>G) Identified from a Hispanic Neonate with Extreme Hyperbilirubinemia and Low G6PD Enzymatic Activity.
- Published in:
- Neonatology (16617800), 2020, v. 117, n. 4, p. 532, doi. 10.1159/000510300
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- Publication type:
- Article
GFI1 functions in transcriptional control and cell fate determination require SNAG domain methylation to recruit LSD1.
- Published in:
- Biochemical Journal, 2016, v. 473, n. 19, p. 3355, doi. 10.1042/BCJ20160558
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- Publication type:
- Article
Severe congenital neutropenia, SRP54 pathogenicity, and a framework for surveillance.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1434, doi. 10.1002/ajmg.a.63156
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- Publication type:
- Article
Novel germline JAK2<sup>R715T</sup> mutation causing PV‐like erythrocytosis in 3 generations. Amelioration by Ropeg‐Interferon.
- Published in:
- American Journal of Hematology, 2024, v. 99, n. 7, p. 1220, doi. 10.1002/ajh.27311
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- Publication type:
- Article
Novel, de novo, beta‐globin variant with decreased oxygen affinity (HBB:c.317T>A, "Hemoglobin St. George") in a healthy child with low oxygen saturations and anemia.
- Published in:
- American Journal of Hematology, 2021, v. 96, n. 12, p. E448, doi. 10.1002/ajh.26356
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- Publication type:
- Article
Urokinase Plasminogen Activator Induces Pro-Fibrotic/M2 Phenotype in Murine Cardiac Macrophages.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0057837
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- Publication type:
- Article
Female adolescent with recurrent anemia and thrombocytopenia: Answers.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 9, p. 2069, doi. 10.1007/s00467-022-05486-5
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- Publication type:
- Article
Female adolescent with recurrent anemia and thrombocytopenia: Questions.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 9, p. 2067, doi. 10.1007/s00467-022-05482-9
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- Publication type:
- Article
Infantile Pyknocytosis: End-Tidal CO, %Micro-R Measurements, Next-Generation Sequencing, and Transfusion Avoidance with Darbepoetin.
- Published in:
- Biomedicine Hub, 2020, v. 5, n. 3, p. 1, doi. 10.1159/000511388
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- Publication type:
- Article
Correction to: Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 3, p. 1, doi. 10.1007/s10875-024-01677-x
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- Publication type:
- Article
Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 2, p. 1, doi. 10.1007/s10875-023-01607-3
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- Publication type:
- Article
Familial autoimmunity and risk of developing immune thrombocytopenia and Evans syndrome.
- Published in:
- Pediatric Blood & Cancer, 2024, v. 71, n. 10, p. 1, doi. 10.1002/pbc.31239
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- Publication type:
- Article
Pediatric B-Cell Lymphoma With Lymphoblastic Morphology, TdT Expression, MYC Rearrangement, and Features Overlapping With Burkitt Lymphoma.
- Published in:
- 2016
- By:
- Publication type:
- journal article