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Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome
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Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion.
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Systematic analysis of the effect of novel Alzheimer disease PS1/2 mutations on A beta secretion
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Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cm interval
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Behavioral and psychological signs and symptoms in patients with dementia of the Alzheimer type (DAT) and frontotemporal dementia (FTD): no effect of APOE genotype
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International Nosology and Classification of Constitutional Disorders of Bone (2001).
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Effect of the APOE-491A/T promoter polymorphism on apolipoprotein E levels and risk of Alzheimer disease: the Rotterdam study
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Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy.
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Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: Previously undescribed MCA/MR syndrome.
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Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.