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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 Anemia, Macrocytic
Concept Anemia, Diamond-Blackfan
Academic Article Prevalence of Elevated Erythrocyte Adenosine Deaminase (eADA) Activity, A Marker of Diamond Blackfan Anemia (DBA), In Patients with Congenital Heart Disease (CHD)
Academic Article Differential down-regulation of RPL35a in human bone marrow progenitors demonstrates a p53 independent mechanism mediating the Diamond Blackfan anemia phenotype
Academic Article Diagnosis and Treatment of Pediatric Acquired Aplastic Anemia (AAA): An Initial Study of the North American Pediatric Aplastic Anemia Consortium (NAPAAC)
Academic Article Diamond Blackfan anemia: What’s the 5S ribonucleoprotein subcomplex got to do with it? [Abstract]
Academic Article Distinct Ribosome Maturation Defects in Yeast Models for Diamond Blackfan Anemia and Shwachman Diamond Syndrome
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 Differential Down-Regulation of RPL35a in Human Bone Marrow Progenitors Demonstrates a p53 Independent Mechanism Mediating the Diamond Blackfan Anemia Phenotype [Abstract]
Academic Article 5q- Myelodysplastic Syndrome, In One of 23 Children Lacking a Known Ribosomal Gene Mutation, Masquerading as Diamond Blackfan Anemia (DBA) and Responding to Lenalidomide [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 Insights into diagnosis and etiology of Diamond Blackfan anemia by analysis of pre-rRNA processing [Abstract]
Academic Article A Large Subunit Abnormality in Diamond-Blackfan Anemia (DBA) [Abstract]
Academic Article 5q Myelodysplastic Syndrome (MDS) Masquerading as Diamond Blackfan Anemia [Abstract]
Academic Article Yeast Models for Diamond Blackfan Anemia and Shwachman Diamond Syndrome Differ In Their Effect On Translation of Certain Classes of mRNA [Abstract]
Academic Article Diamond Blackfan anemia: a Cheshire cat of hematology.
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.
Academic Article Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population: A Report of the Diamond Blackfan Anemia Registry.
Grant Functional Analysis of RPL35A Alterations in Diamond Blackfan Anemia
Grant Mechanisms of Erythroid Remission in Diamond Blackfan Anemia (DBA)
Academic Article Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A.
Academic Article L-leucine improves anemia and growth in patients with transfusion-dependent Diamond-Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond-Blackfan Anemia Registry.
Grant GR034151 Farrar ACHRI Mechanisms of Erythroid Remission in Diamond Blackfan Anemia (DBA)

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