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British Journal of Haematology|November 20, 2023
Biallelic hypomorphic variants in CAD cause uridine-responsive macrocytic anaemia with elevated haemoglobin-A2Orna Steinberg-Shemer, Joanne Yacobovich, Sharon Noy-Lotan, et al.
Pediatric Blood & Cancer|May 21, 2021
Pediatric myelodysplastic syndrome with inflammatory manifestations: Diagnosis, genetics, treatment, and outcomeAsaf D Yanir, Aviva Krauss, Jerry Stein, et al.
European Journal of Human Genetics : EJHG|June 26, 2003
CATSPER2, a human autosomal nonsyndromic male infertility geneNili Avidan, Hannah Tamary, Orly Dgany, et al.
Haematologica|September 28, 2019
Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic populationOrna Steinberg-Shemer, Tracie A Goldberg, Joanne Yacobovich, et al.
European Journal of Haematology|May 23, 2018
Targeted next generation sequencing for the diagnosis of patients with rare congenital anemiasNoa Shefer Averbuch, Orna Steinberg-Shemer, Orly Dgany, et al.
Blood|June 1, 2017
Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietinAaron Seo, Miri Ben-Harosh, Mehtap Sirin, et al.
American Journal of Human Genetics|November 16, 2002
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1Orly Dgany, Nili Avidan, Jean Delaunay, et al.
Haematologica|March 17, 2022
Syndromes predisposing to leukemia are a major cause of inherited cytopenias in childrenOded Gilad, Orly Dgany, Sharon Noy-Lotan, et al.
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