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Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
invasive prenatal diagnosis in a context of family history of single-gene disorders, including, sickle cell disease, cystic fibrosis, fragile x syndrome, proximal spinal muscular atrophy, myotonic dystrophy, muscular dystrophy, duchenne, muscular dystrophy, becker, neurofibromatosis-noonan syndrome, huntington disease, hemophilia a, hemophilia b
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