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Molecular Approaches To Diagnose Diamond-Blackfan Anemia: The Eurodba Experience
(Elsevier Science Bv, 2018)
Diamond-Blackfan anemia (DBA) is a rare congenital erythroblastopenia and inherited bone marrow failure syndrome that affects approximately seven individuals in every million live births. In addition to anemia, about 50% ...
Erlin1 Mutations Cause Teenage-Onset Slowly Progressive Als In A Large Turkish Pedigree
(Nature Publishing Group, 2018)
Amyotrophic lateral sclerosis (ALS) is a late-onset motor neuron disease with mostly dominant inheritance and a life expectancy of 2-5 years; however, a quite common occurrence of atypical forms of the disease, due to ...