Found: 9
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Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations.
- Published in:
- European Journal of Pediatrics, 2012, v. 171, n. 11, p. 1711, doi. 10.1007/s00431-012-1730-8
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- Publication type:
- Article
Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a NHEJ1 -Deficient Long-term Survivor.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.869047
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- Publication type:
- Article
Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease‐causing mutations.
- Published in:
- British Journal of Haematology, 2018, v. 182, n. 2, p. 251, doi. 10.1111/bjh.15389
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- Publication type:
- Article
Copy Number Changes and Allele Distribution Patterns of Chromosome 21 in B Cell Precursor Acute Lymphoblastic Leukemia.
- Published in:
- Cancers, 2021, v. 13, n. 18, p. 4597, doi. 10.3390/cancers13184597
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- Publication type:
- Article
High-resolution analysis of alterations in medullary thyroid carcinoma genomes.
- Published in:
- International Journal of Cancer, 2012, v. 131, n. 2, p. E66, doi. 10.1002/ijc.26494
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- Publication type:
- Article
Dominant inherited β‐thalassemia intermedia in a Polish family due to a novel frameshift mutation in HBB.
- Published in:
- Pediatric Blood & Cancer, 2023, v. 70, n. 10, p. 1, doi. 10.1002/pbc.30511
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- Publication type:
- Article
Band 3 null<sup>VIENNA</sup> , a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis.
- Published in:
- 2017
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- Publication type:
- journal article
Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Metastatic disease and major adverse cardiovascular events preceding diagnosis are the main determinants of disease-specific survival of pheochromocytoma/ paraganglioma: long-term follow-up of 303 patients.
- Published in:
- Frontiers in Endocrinology, 2024, p. 01, doi. 10.3389/fendo.2024.1419028
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- Publication type:
- Article