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Orphanet Journal of Rare Diseases
|
July 31, 2023
A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice
Vittoria Murro, Sandro Banfi, Francesco Testa, et al.
Blood Advances
|
March 14, 2025
Mitapivat metabolically reprograms human β-thalassemic erythroblasts, increasing their responsiveness to oxidation
Angela Siciliano, Angelo D'Alessandro, Alessandro Matte, et al.
Hemasphere
|
July 16, 2024
Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia
Achille Iolascon, Immacolata Andolfo, Roberta Russo, et al.
JCI Insight
|
September 7, 2023
Mitapivat reprograms the RBC metabolome and improves anemia in a mouse model of hereditary spherocytosis
Alessandro Matte, Anand B Wilson, Federica Gevi, et al.
International Journal of Molecular Sciences
|
January 8, 2025
P2 Receptor Antagonists Rescue Defective Heme Content in an In Vitro SLC25A38-Associated Congenital Sideroblastic Anemia Cell Model
Antonella Santoro, Silvia De Santis, Ferdinando Palmieri, et al.
Blood
|
April 21, 2026
Refined classification and phenotype-driven analysis of PIEZO1 variants in hereditary red cell and iron disorders
Barbara Eleni Rosato, Roberta Marra, Stefania Martone, et al.
International Journal of Molecular Sciences
|
September 10, 2021
The Serum Metabolome of Moderate and Severe COVID-19 Patients Reflects Possible Liver Alterations Involving Carbon and Nitrogen Metabolism
Marianna Caterino, Michele Costanzo, Roberta Fedele, et al.
International Journal of Molecular Sciences
|
January 28, 2026
Targeted Therapy for a Rare <i>PDGFRB</i>-Rearranged Myeloproliferative Neoplasm: A Case Report
Cosimo Barbato, Vito A Lasorsa, Francesco Grimaldi, et al.
Frontiers in Molecular Biosciences
|
May 26, 2023
Resources and tools for rare disease variant interpretation
Luana Licata, Allegra Via, Paola Turina, et al.
Iscience
|
March 22, 2021
Common variants at 21q22.3 locus influence <i>MX1</i> and <i>TMPRSS2</i> gene expression and susceptibility to severe COVID-19
Immacolata Andolfo, Roberta Russo, Vito Alessandro Lasorsa, et al.
Page
of 17
Search research articles
Search
Showing results (141-150 of 169) with videos related to
Sort By:
Page
of 17
Orphanet Journal of Rare Diseases
|
July 31, 2023
A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice
Vittoria Murro, Sandro Banfi, Francesco Testa, et al.
Blood Advances
|
March 14, 2025
Mitapivat metabolically reprograms human β-thalassemic erythroblasts, increasing their responsiveness to oxidation
Angela Siciliano, Angelo D'Alessandro, Alessandro Matte, et al.
Hemasphere
|
July 16, 2024
Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia
Achille Iolascon, Immacolata Andolfo, Roberta Russo, et al.
JCI Insight
|
September 7, 2023
Mitapivat reprograms the RBC metabolome and improves anemia in a mouse model of hereditary spherocytosis
Alessandro Matte, Anand B Wilson, Federica Gevi, et al.
International Journal of Molecular Sciences
|
January 8, 2025
P2 Receptor Antagonists Rescue Defective Heme Content in an In Vitro SLC25A38-Associated Congenital Sideroblastic Anemia Cell Model
Antonella Santoro, Silvia De Santis, Ferdinando Palmieri, et al.
Blood
|
April 21, 2026
Refined classification and phenotype-driven analysis of PIEZO1 variants in hereditary red cell and iron disorders
Barbara Eleni Rosato, Roberta Marra, Stefania Martone, et al.
International Journal of Molecular Sciences
|
September 10, 2021
The Serum Metabolome of Moderate and Severe COVID-19 Patients Reflects Possible Liver Alterations Involving Carbon and Nitrogen Metabolism
Marianna Caterino, Michele Costanzo, Roberta Fedele, et al.
International Journal of Molecular Sciences
|
January 28, 2026
Targeted Therapy for a Rare <i>PDGFRB</i>-Rearranged Myeloproliferative Neoplasm: A Case Report
Cosimo Barbato, Vito A Lasorsa, Francesco Grimaldi, et al.
Frontiers in Molecular Biosciences
|
May 26, 2023
Resources and tools for rare disease variant interpretation
Luana Licata, Allegra Via, Paola Turina, et al.
Iscience
|
March 22, 2021
Common variants at 21q22.3 locus influence <i>MX1</i> and <i>TMPRSS2</i> gene expression and susceptibility to severe COVID-19
Immacolata Andolfo, Roberta Russo, Vito Alessandro Lasorsa, et al.
Page
of 17