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Ribosomes are essential components of the protein translation machinery and are composed of more than 80 unique large and small… Expand Background & objectives: Myelodysplastic syndrome (MDS) is a clonal haematopoietic stem cell disorder characterized by… Expand Ribosomes are vital for cell growth and survival. Until recently, it was believed that mutations in ribosomes or ribosome… Expand The 5q syndrome is the most distinct of all the myelodysplastic syndromes with a clear genotype/phenotype relationship. The… Expand positive or all BFU-E or CFU-GM colonies are positive for V617F suggests that the bone marrow of this patient is not monoclonal… Expand Myelodysplastic syndromes (MDS) are clonal stem cell disorders, characterized by ineffective and dysplastic hematopoiesis. MDS… Expand A 1-year-old girl with partial 5q trisomy and partial 7q monosomy had ocular abnormalities that included bilateral blepharoptosis… Expand A family is described in which the mother's 9 pregnancies ended in the birth of 2 healthy girls, 4 spontaneous abortions and 3… Expand We have studied a family in which a mother and daughter (the proposita) had the karyotype 46,XX,ins(2;5),t(5;13). The mother had… Expand Two sisters with statomotor developmental retardation microcephaly, hydrocephalus internus and externus without signs of pressure… Expand