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Dominant missense mutations in ABCC9 cause CantĂș syndrome.
Nature Genetics
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Amor, DJ, Burgess, T, Tan, TY, Pertile, MD.
Questionable pathogenicity of FOXG1 duplication.
European Journal of Human Genetics
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2012
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Fragile X Mental Retardation 1 (FMR1) Intron 1 Methylation in Blood Predicts Verbal Cognitive Impairment in Female Carriers of Expanded FMR1 Alleles: Evidence from a Pilot Study.
Clinical Chemistry
58(3)
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Further clinical and molecular delineation of the 15q24 microdeletion syndrome.
Journal of Medical Genetics
49(2)
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Genetic Counselling.
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