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1
Nucleolar stress in Drosophila neuroblasts, a model for human ribosomopathies
Published 2020-04-01Subjects: Get full text
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2
Ribosomal Protein L10: From Function to Dysfunction
Published 2020-11-01Subjects: Get full text
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3
Cell autonomous and non-autonomous consequences of deviations in translation machinery on organism growth and the connecting signalling pathways
Published 2022-04-01Subjects: Get full text
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4
A novel nonsense RPS26 mutation in a patient with Diamond–Blackfan anemia: a case report
Published 2024-11-01Subjects: Get full text
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5
Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19
Published 2022-07-01Subjects: Get full text
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6
Leukoencephalopathy, calcifications, and cysts: Labrune syndrome
Published 2023-02-01Subjects: Get full text
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7
Mechanism of completion of peptidyltransferase centre assembly in eukaryotes
Published 2019-05-01Subjects: Get full text
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8
Potentials of ribosomopathy gene as pharmaceutical targets for cancer treatment
Published 2024-03-01Subjects: Get full text
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9
Editorial: Epigenetic mechanisms and their involvement in rare diseases, volume II
Published 2024-09-01Subjects: Get full text
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10
Diffuse large B-cell lymphoma chemotherapy reveals a combined immunodeficiency syndrome in cartilage hair hypoplasia
Published 2018-04-01Subjects: Get full text
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11
Haploinsufficiency of the essential gene Rps12 causes defects in erythropoiesis and hematopoietic stem cell maintenance
Published 2023-06-01Subjects: Get full text
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12
Deficiency of ribosomal protein S26, which is mutated in a subset of patients with Diamond Blackfan anemia, impairs erythroid differentiation
Published 2022-12-01Subjects: Get full text
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13
The transcription factor Xrp1 orchestrates both reduced translation and cell competition upon defective ribosome assembly or function
Published 2022-02-01Subjects: Get full text
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14
Proerythroblast Cells of Diamond-Blackfan Anemia Patients With RPS19 and CECR1 Mutations Have Similar Transcriptomic Signature
Published 2021-06-01Subjects: Get full text
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15
Diagnostic and prognostic implications of ribosomal protein transcript expression patterns in human cancers
Published 2018-03-01Subjects: Get full text
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16
Case Report: Novel Biallelic Variants in DNAJC21 Causing an Inherited Bone Marrow Failure Spectrum Phenotype: An Odyssey to Diagnosis
Published 2022-04-01Subjects: Get full text
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17
Erratum: Novel Biallelic Variants in DNAJC21 Causing an Inherited Bone Marrow Failure Spectrum Phenotype: An Odyssey to Diagnosis
Published 2022-05-01Subjects: Get full text
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18
Editorial: Inherited and acquired ribosomopathies: missing puzzle pieces
Published 2023-04-01Subjects: Get full text
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19
Ribosomopathies: how a common root can cause a tree of pathologies
Published 2015-09-01Subjects: Get full text
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20
Ribosomopathies: New Therapeutic Perspectives
Published 2020-09-01Subjects: “…ribosomopathies…”
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