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Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiencyMolecular characterization of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiencyFunctional analysis of pyrimidine 5'-nucleotidase mutants causing nonspherocytic hemolytic anemiaHIC gene, a candidate suppressor gene within a minimal region of loss at 7q31.1 in myeloid neoplasms.Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia.Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene.Hereditary erythrocyte pyrimidine 5'-nucleotidase deficiency: a biochemical, genetic and clinical overview.Hereditary pyrimidine 5'-nucleotidase deficiency: from genetics to clinical manifestations.Pyruvate kinase deficiency: the genotype-phenotype association.Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesisHereditary red cell membrane defects: diagnostic and clinical aspects.Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families.Imatinib and ruxolitinib association: first experience in two patients.RAS mutations contribute to evolution of chronic myelomonocytic leukemia to the proliferative variant.Biological and molecular characterization of PNH-like lymphocytes emerging after Campath-1H therapy.Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients.Iron status and HFE genotype in erythrocyte pyruvate kinase deficiency: study of Italian cases.Clinical and molecular aspects of 23 patients affected by paroxysmal nocturnal hemoglobinuria.A new variant of adenylate kinase (delG138) associated with severe hemolytic anemia.Increased prevalence of autoimmune phenomena in myelofibrosis: relationship with clinical and morphological characteristics, and with immunoregulatory cytokine patterns.A case of congenital red cell pyruvate kinase deficiency associated with hereditary stomatocytosis.Clinical and hematologic features of 300 patients affected by hereditary spherocytosis grouped according to the type of the membrane protein defect.Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene.Molecular basis of pyrimidine 5'-nucleotidase deficiency caused by 3 newly identified missense mutations (c.187T>C, c.469G>C and c.740T>C) and a tabulation of known mutations.Cerebellar atrophy in a child with hereditary methemoglobinemia type II.A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization.Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.The significance of bone marrow biopsy and JAK2V617F mutation in the differential diagnosis between the "early" prepolycythemic phase of polycythemia vera and essential thrombocythemia.Clinical and morphologic features in five post-polycythemic myelofibrosis patients treated with ruxolitinib.Molecular analyses in the diagnosis of myeloproliferative neoplasm-related splanchnic vein thrombosis.Chromosome 7q31.1 deletion in myeloid neoplasms.Pyruvate kinase deficiencyA Case of Hereditary Spherocytosis Misdiagnosed as Pyruvate Kinase Deficient Hemolytic AnemiaCDAII presenting as hydrops foetalis: Molecular characterization of two casesTriose phosphate isomerase deficiency associated with two novel mutations in TPI genePrenatal diagnosis for a novel homozygous mutation inPKLR gene in an Indian familyImmunoregulatory cytokine polymorphisms in Italian patients affected by paroxysmal nocturnal haemoglobinuria and aplastic anaemiaHematological, molecular and cytokine changes after reduced intensity bone marrow transplantation for paroxysmal nocturnal hemoglobinuria
P50
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P50
description
hulumtuese
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onderzoeker
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researcher
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հետազոտող
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name
Elisa Fermo
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Elisa Fermo
@en
Elisa Fermo
@es
Elisa Fermo
@nl
Elisa Fermo
@sl
type
label
Elisa Fermo
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Elisa Fermo
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Elisa Fermo
@es
Elisa Fermo
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Elisa Fermo
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prefLabel
Elisa Fermo
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Elisa Fermo
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Elisa Fermo
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Elisa Fermo
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Elisa Fermo
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P1053
K-2282-2015
P106
P21
P31
P3829
P496
0000-0003-2812-8711