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Last Updated: 10/31/2025

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Found 833 publications

RPS19 and RPL5 Haploinsufficient Models Reveal Divergent Ribosomal Subunit Controls of Fetal Hematopoiesis.

RPS19 and RPL5 Haploinsufficient Models Reveal Divergent Ribosomal Subunit Controls of Fetal Hematopoiesis.

Journal: Research square
Published: October 03, 2025

Editorial: Anemia in children: from nutritional deficits to genetic disorders.

Editorial: Anemia in children: from nutritional deficits to genetic disorders.

Journal: Frontiers in pediatrics
Published: August 01, 2025

Intrafamilial variability in Diamond-Blackfan anemia with a novel canonical splice-site variant in the RPL11 gene.

Intrafamilial variability in Diamond-Blackfan anemia with a novel canonical splice-site variant in the RPL11 gene.

Journal: Laboratory medicine
Published: July 28, 2025

Extra-Ribosomal Roles for Ribosomal Proteins and Their Relevance to Tumour Suppression, Carcinogenesis and Cancer Progression.

Extra-Ribosomal Roles for Ribosomal Proteins and Their Relevance to Tumour Suppression, Carcinogenesis and Cancer Progression.

Journal: Cancers
Published: July 21, 2025

A lipid metabolism defect is an underlying contributor to Diamond Blackfan anemia syndrome.

A lipid metabolism defect is an underlying contributor to Diamond Blackfan anemia syndrome.

Journal: bioRxiv : the preprint server for biology
Published: June 12, 2025

Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia.

Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia.

Journal: Orphanet journal of rare diseases
Published: June 06, 2025

A de novo nonsense variant in RPS10 causes Diamond-Blackfan anaemia in an Indian patient: clinical and functional evidence.

A de novo nonsense variant in RPS10 causes Diamond-Blackfan anaemia in an Indian patient: clinical and functional evidence.

Journal: Molecular genetics and genomics : MGG
Published: May 21, 2025

Is mitochondrial function at the heart of ribosome-related diseases?

Is mitochondrial function at the heart of ribosome-related diseases?

Journal: Trends in cell biology
Published: April 30, 2025

Diamond-Blackfan anaemia presents as pathological foetal CTG and severe neonatal anaemia.

Diamond-Blackfan anaemia presents as pathological foetal CTG and severe neonatal anaemia.

Journal: BMJ case reports
Published: April 15, 2025

Diamond-Blackfan anemia syndrome in an adult with RPS19 and DDX41 variants successfully treated with allogeneic stem cell transplantation: a case report.

Diamond-Blackfan anemia syndrome in an adult with RPS19 and DDX41 variants successfully treated with allogeneic stem cell transplantation: a case report.

Journal: Leukemia & lymphoma
Published: April 02, 2025

Diagnosis and treatment of Diamond-Blackfan anemia and Pierre-Robin sequence caused by a novel mutation of RPS28 gene.

Diagnosis and treatment of Diamond-Blackfan anemia and Pierre-Robin sequence caused by a novel mutation of RPS28 gene.

Journal: Hematology (Amsterdam, Netherlands)
Published: March 26, 2025

Insights in bone marrow failure syndromes: take home messages from the 3rd ESH-EBMT-EHA-IPIG translational research conference.

Insights in bone marrow failure syndromes: take home messages from the 3rd ESH-EBMT-EHA-IPIG translational research conference.

Journal: Bone marrow transplantation
Published: March 18, 2025
Showing 1-12 of 833

Last Updated: 10/31/2025