Found: 16
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Next-generation sequencing reveals unique combination of mutations in cis of CSF3R in atypical chronic myeloid leukemia.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Myelodysplastic Syndrome/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis with Cooccurrent SF3B1 and MPL Gene Mutations: A Case Report and Brief Review of the Literature.
- Published in:
- Laboratory Medicine, 2020, v. 51, n. 3, p. 315, doi. 10.1093/labmed/lmz076
- By:
- Publication type:
- Article
Congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) caused by novel ADAMTS13 mutations.
- Published in:
- British Journal of Haematology, 2016, v. 173, n. 1, p. 156, doi. 10.1111/bjh.13564
- By:
- Publication type:
- Article
Ethnicity-specific impact of HLA I/II genotypes on the risk of inhibitor development: data from Korean patients with severe hemophilia A.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Hereditary gene mutations in Korean patients with isolated erythrocytosis.
- Published in:
- Annals of Hematology, 2014, v. 93, n. 6, p. 931, doi. 10.1007/s00277-014-2006-3
- By:
- Publication type:
- Article
Clinical significance of SF3B1 mutations in Korean patients with myelodysplastic syndromes and myelodysplasia/myeloproliferative neoplasms with ring sideroblasts.
- Published in:
- Annals of Hematology, 2014, v. 93, n. 4, p. 603, doi. 10.1007/s00277-013-1915-x
- By:
- Publication type:
- Article
Gene mutation profiles and prognostic implications in Korean patients with T-lymphoblastic leukemia.
- Published in:
- Annals of Hematology, 2013, v. 92, n. 5, p. 635, doi. 10.1007/s00277-012-1664-2
- By:
- Publication type:
- Article
Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea.
- Published in:
- Annals of Hematology, 2013, v. 92, n. 3, p. 357, doi. 10.1007/s00277-012-1628-6
- By:
- Publication type:
- Article
KIT D816 mutation associates with adverse outcomes in core binding factor acute myeloid leukemia, especially in the subgroup with RUNX1/RUNX1T1 rearrangement.
- Published in:
- Annals of Hematology, 2013, v. 92, n. 2, p. 163, doi. 10.1007/s00277-012-1580-5
- By:
- Publication type:
- Article
Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia.
- Published in:
- Annals of Hematology, 2012, v. 91, n. 4, p. 511, doi. 10.1007/s00277-011-1326-9
- By:
- Publication type:
- Article
Paternal Somatic Mosaicism of a Novel Frameshift Mutation in ELANE Causing Severe Congenital Neutropenia.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Erratum: A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia.
- Published in:
- Pediatric Blood & Cancer, 2012, v. 59, n. 7, p. 1336, doi. 10.1002/pbc.24370
- By:
- Publication type:
- Article
Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia.
- Published in:
- Pediatric Blood & Cancer, 2012, v. 59, n. 2, p. 335, doi. 10.1002/pbc.24041
- By:
- Publication type:
- Article
A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia.
- Published in:
- Pediatric Blood & Cancer, 2012, v. 58, n. 4, p. 640, doi. 10.1002/pbc.23190
- By:
- Publication type:
- Article
A novel nonsense mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia.
- Published in:
- Pediatric Blood & Cancer, 2011, v. 56, n. 2, p. 304, doi. 10.1002/pbc.22842
- By:
- Publication type:
- Article
A novel initiation codon mutation in the ribosomal protein S17 gene ( RPS17) in a patient with Diamond-Blackfan anemia.
- Published in:
- Pediatric Blood & Cancer, 2010, v. 54, n. 4, p. 629, doi. 10.1002/pbc.22316
- By:
- Publication type:
- Article