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Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
Journal of Medical Genetics, 09/25/09
Hynes K et al. – This de novo PCDH19 mutation in a sporadic female highlights that mutational analysis should be considered in isolated instances of girls with infantile onset seizures and developmental delay, in addition to those with the characteristic family history of EFMR.
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Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci
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Accumulation of gene polymorphisms related to plaque disruption and thrombosis is associated with cerebral infarction in subjects with type 2 diabetes
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Effect of cilnidipine vs losartan on cerebral blood flow in hypertensive patients with a history of ischemic stroke: a randomized controlled trial
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Depression and Advanced Complications of Diabetes: a Prospective Cohort Study
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Integrated Management of Physician-delivered Alcohol Care for Tuberculosis Patients: Design and Implementation
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