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LUPSKI, JAMES
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NELSON, DAVID
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ZOGHBI, HUDA
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Cappuccio, Gerarda
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BELLEN, HUGO
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Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.
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ELSEA, SARAH
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Alpha-thalassemia/mental retardation syndrome in a 45,X male.
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Ambulatory Care Sensitive Admissions in Individuals With Autism Spectrum Disorder, Intellectual Disability, and Population Controls.
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Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
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Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability.
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DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
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Gabapentin in the treatment of refractory partial epilepsy in children with intellectual disability.
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Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
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Heterozygous variants in SPTBN1 cause intellectual disability and autism.
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