The American Journal of Human Genetics · 2009 · 436 citations · 45 references
Life SciencesGeneticsMolecular GeneticsEpigeneticsEpigenomicsHuman GeneticsCongenital DisordersGenetic DisordersGenetic SyndromesNeurodevelopmental DisordersNeurodevelopmental GeneticsNewborn Genetic ScreeningCongenital Abnormality ScreeningNewborn ScreeningNewborn Screening DisordersTesting For X-linked DisordersX-linked Intellectual DisabilityX-linked Neurodevelopmental Disorders
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Absence of expression of the FMR-1 gene in fragile X syndrome
Maura Pieretti, Ying‐Hui Fu, Stephen T. Warren et al. · Cell · 1991 · 1.5K citations