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Human genome variation, ISSN 2054-345X, 2019, Volume 6, Issue 1, pp. 2 - 9
Biallelic mutations in the neuroblastoma amplified sequence ( ) gene have been reported to cause two different clinical spectra: short stature with optic nerve... 
Drug overdose | Neuroblastoma | Mutation | Liver
Journal Article
Journal Article
Haematologica, ISSN 0390-6078, 02/2019, Volume 104, Issue 10, pp. 1962 - 1973
Fanconi anemia is a rare recessive disease characterized by multiple congenital abnormalities, progressive bone marrow failure, and a predisposition to... 
Journal Article
Human mutation, ISSN 1059-7794, 09/2019
Fanconi anemia (FA) is a rare genetic disorder characterized by bone marrow failure, predisposition to cancer, and congenital abnormalities. FA is caused by... 
Journal Article
International journal of hematology, ISSN 0925-5710, 09/2019, pp. 1 - 6
A 68-year-old male was diagnosed with acute promyelocytic leukemia (APL). A G-banding chromosomal analysis revealed the co-existence of two clones: one with... 
Dysplasia | Hematology | Leukemia | Abnormalities | Coexistence | Hemopoiesis | Promyeloid leukemia | Cytogenetics | Remission | Diagnosis | Mutation | Retinoic acid | Acute promyeloid leukemia | trans-Retinoic acid
Journal Article
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 08/2019, Volume 66, Issue 8, pp. e27784 - n/a
Malignant rhabdoid tumors (MRTs) are rare, highly aggressive embryonal neoplasms caused by biallelic alterations of the SMARCB1 gene. MRTs may occur in any... 
yolk sac tumor | malignant rhabdoid tumor | SMARCB1‐deficient tumor | SNP array analysis | ONCOLOGY | PEDIATRICS | SMARCB1-deficient tumor | COMBINATION | HEMATOLOGY | CHEMOTHERAPY | CHILDREN | Analysis | Tumors | Malignant rhabdoid tumor | Yolk sac | Neoplasms | Soft tissues | Mimicry | Yolk
Journal Article
Leukemia, ISSN 0887-6924, 2019, Volume 33, Issue 7, pp. 1687 - 1699
Journal Article
Journal Article
Experimental Hematology, ISSN 0301-472X, 07/2019, Volume 75, pp. 26 - 30
In a previously published case study of acute myeloid leukemia, we tracked the dynamics of somatic mutations over 9 years. Interestingly, we observed a group... 
MEDICINE, RESEARCH & EXPERIMENTAL | MUTATIONS | HEMATOLOGY | DNMT3A | Index Medicus
Journal Article
Leukemia, ISSN 0887-6924, 2019, Volume 33, Issue 7, pp. 1747 - 1758
Journal Article