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Search Results to Jason Farrar

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One or more keywords matched the following items that are connected to Farrar, Jason

Item TypeName
Academic Article Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia.
Academic Article Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
Academic Article Ribosomal protein gene deletions in Diamond-Blackfan anemia.
Academic Article Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome.
Academic Article Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome.
Academic Article Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.
Concept Ribosomal Proteins
Academic Article SNP Array Genotyping Reveals Constitutional and Mosaic Losses of Ribosomal Protein Gene Regions In Patients with Diamond Blackfan Anemia without Ribosomal Protein Gene Mutations [Abstract]
Academic Article Sequence Abnormalities In Genes Encoding Ribosomal Proteins In Patients With Diamond Blackfan Anemia: A Preliminary Report from the Resequencing Project [Abstract]
Academic Article The Frequent Identification of Ribosomal Protein Gene Deletions in Diamond Blackfan Anemia Patients without Detectable Ribosomal Protein Gene Mutations [Abstract]
Academic Article Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis.
Academic Article Molecular convergence in ex vivo models of Diamond-Blackfan anemia.
Grant Functional Analysis of RPL35A Alterations in Diamond Blackfan Anemia
Academic Article Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A.

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  • Ribosomal Proteins