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Rebecca S. Henkhaus et al.
GENETIC TESTING AND MOLECULAR BIOMARKERS (2012)
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The relationship between compulsive behaviour and academic achievement across the three genetic subtypes of Prader-Willi syndrome
J. Zarcone et al.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH (2007)
Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy
MG Butler et al.
PEDIATRICS (2004)
Epimutations in Prader-Willi and Angelman syndromes: A molecular study of 136 patients with an imprinting defect
K Buiting et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Parent-specific complementary patterns of histone H3 lysine 9 and H3 lysine 4 methylation at the Prader-Willi syndrome imprinting center
ZH Xin et al.
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Maternal methylation imprints on human chromosome 15 are established during or after fertilization
O El-Maarri et al.
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Imprinting centre deletions in two PWS families:: implications for diagnostic testing and genetic counselling
K Buiting et al.
CLINICAL GENETICS (2000)
Familial Prader-Willi syndrome: Case report and a literature review
ME McEntagart et al.
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