Terms: = Bone cancer AND RPL5, 6125, P46777, MSTP030, MGC117339, ENSG00000122406 AND Diagnosis
5 results:
1. A De Novo Frameshift Mutation in rpl5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult-A Case Report and Review of the Literature.
Dorenkamp M; Porret N; Diepold M; Rovó A
Medicina (Kaunas); 2023 Nov; 59(11):. PubMed ID: 38004002
[TBL] [Abstract] [Full Text] [Related]
2. Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations.
Li J; Su Y; Chen L; Lin Y; Ru K
Int J Lab Hematol; 2023 Oct; 45(5):766-773. PubMed ID: 37376976
[TBL] [Abstract] [Full Text] [Related]
3. Deep Learning on MRI Images for diagnosis of Lung cancer Spinal bone Metastasis.
Fan X; Zhang X; Zhang Z; Jiang Y
Contrast Media Mol Imaging; 2021; 2021():5294379. PubMed ID: 34354553
[TBL] [Abstract] [Full Text] [Related]
4. Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel rpl5 and mosaic RPS19 mutations.
Errichiello E; Vetro A; Mina T; Wischmeijer A; Berrino E; Carella M; Romagnoli M; Sacchini P; Venesio T; Zecca M; Zuffardi O
Blood Cells Mol Dis; 2017 May; 64():38-44. PubMed ID: 28376382
[TBL] [Abstract] [Full Text] [Related]
5. Diamond Blackfan Anemia: A Nonclassical Patient With diagnosis Assisted by Genomic Analysis.
Steinberg-Shemer O; Keel S; Dgany O; Walsh T; Noy-Lotan S; Krasnov T; Yacobovich J; Quarello P; Ramenghi U; King MC; Shimamura A; Tamary H
J Pediatr Hematol Oncol; 2016 Oct; 38(7):e260-2. PubMed ID: 27258031
[TBL] [Abstract] [Full Text] [Related]
