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LUPSKI, JAMES
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Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.
Academic Article
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BELLEN, HUGO
Person
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Alpha-thalassemia/mental retardation syndrome in a 45,X male.
Academic Article
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Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability.
Academic Article
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DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
Academic Article
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Gabapentin in the treatment of refractory partial epilepsy in children with intellectual disability.
Academic Article
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Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
Academic Article
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Heterozygous variants in SPTBN1 cause intellectual disability and autism.
Academic Article
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Mental retardation: X marks the spot.
Academic Article
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Nuclear receptor corepressors in intellectual disability and autism.
Academic Article
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Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).
Academic Article
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POGZ truncating alleles cause syndromic intellectual disability.
Academic Article
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Regulatory de novo mutations underlying intellectual disability.
Academic Article
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Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities.
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