Last Updated: 09/26/2026
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Found 20 publications
A Grammastola spatulata mechanotoxin-4 (GsMTx4)-sensitive cation channel mediates increased cation permeability in human hereditary spherocytosis of multiple genetic etiologies.
Journal: Haematologica
Published: March 12, 2021
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.
Journal: Pediatric blood & cancer
Published: June 22, 2020
TGFβ signaling underlies hematopoietic dysfunction and bone marrow failure in Shwachman-Diamond Syndrome.
Journal: The Journal of clinical investigation
Published: June 19, 2019
A Successful Collaborative Approach to the Perioperative Management After Hip Arthroscopy of a Patient with Heterozygous Prothrombin G20210A Mutation: A Case Report.
Journal: JBJS case connector
Published: May 16, 2019
Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia.
Journal: The Journal of clinical investigation
Published: May 01, 2019
The Genetic Landscape of Diamond-Blackfan Anemia.
Journal: American journal of human genetics
Published: February 09, 2019
Acquired and Inherited Bone Marrow Failure Syndromes.
Journal: Hematology/oncology clinics of North America
Published: July 27, 2018
Introduction to Acquired and Inherited Bone Marrow Failure.
Journal: Hematology/oncology clinics of North America
Published: July 27, 2018
Critical Issues in Diamond-Blackfan Anemia and Prospects for Novel Treatment.
Journal: Hematology/oncology clinics of North America
Published: July 27, 2018
The Genetic Landscape of Diamond-Blackfan Anemia.
Journal: American journal of human genetics
Published: July 10, 2018
The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.
Journal: Haematologica
Published: October 17, 2017
Characteristic peripheral blood smear findings in disorders of cobalamin metabolism.
Journal: Blood
Published: November 26, 2016
Last Updated: 09/26/2026