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1
Neuropsychological and neuroanatomical correlates of perseverative responses in subacute stroke
In: Brain. - Oxford : Oxford Univ. Press 129 (2006) 8, 2148-2157
BLLDB
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2
Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy
Smith, A.; Marks, R.; Haan, E.. - : BRITISH MED JOURNAL PUBL GROUP, 2006
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3
Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.
Smith, A; Marks, R; Haan, E. - : BMJ Publishing Group Ltd, 1997
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4
Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.
Abstract: Angelman syndrome (AS) is a complex neurological disorder with different genetic aetiologies. It is not known whether the clinical features vary depending on the genetic mechanism. We report four patients with AS owing to uniparental disomy (UPD). There were two males and two females, with a mean age of 8 years (range 7 to 11 years). All patients had a happy disposition, hyperactive behaviour, and the characteristic facial phenotype of AS, but in three there was a normal head circumference, two had epilepsy, ataxic movements were mild in three, the mean age of onset of walking was 2.4 years, and there was some sign language in all four patients. Our cases add further weight to the previously reported impressions of a milder phenotype in cases of AS resulting from UPD than in deleted AS patients. Patients suspected of having AS, but who are considered atypical, warrant DNA testing.
Keyword: Research Article
URL: http://www.ncbi.nlm.nih.gov/pubmed/9152844
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1050954
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5
The symbolic brain or the invisible hand?
In: Behavioral and brain sciences. - New York, NY [u.a.] : Cambridge Univ. Press 17 (1994) 1, 85-86
OLC Linguistik
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