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Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2019, Volume 27, Issue 6, pp. 903 - 908
Beckwith-Wiedemann syndrome (BWS; OMIM #130650) is an imprinting disorder caused by genetic or epigenetic alterations of one or both imprinting control regions... 
DIAGNOSIS | GENE | COPY NUMBER VARIATIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | LONG-QT SYNDROME | BECKWITH-WIEDEMANN SYNDROME | DELETION | REGION | Poly(A) | Transcription | KCNQ1OT1 protein | Heredity | Gene deletion | Hypotheses | Clonal deletion | Maternal inheritance | Imprinting | Chromosome 11 | KCNQ1 protein | Potassium channels (voltage-gated) | Methylation
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 09/2019, Volume 27, Issue 9, pp. 1326 - 1340
This article is an update of the best practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes published in 2010 in BMC Medical... 
INTELLECTUAL DISABILITY | DE-NOVO | IMPRINTING CENTER | DNA METHYLATION | SEVERE MENTAL-RETARDATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | SYNGAP1 CAUSE | UNIPARENTAL DISOMY | TRUNCATING MUTATIONS | HAPLOINSUFFICIENCY SYNDROME REPORT | DELETION | Prader-Willi syndrome | Policy | Development | Diseases
Journal Article
Nature Communications, ISSN 2041-1723, 09/2015, Volume 6, Issue 1, p. 8086
Human-imprinting disorders are congenital disorders of growth, development and metabolism, associated with disturbance of parent of origin-specific DNA... 
METHYLATION ANALYSIS | HYDATIDIFORM MOLE | MULTIDISCIPLINARY SCIENCES | HYPOMETHYLATION
Journal Article
Journal Article
European journal of human genetics, ISSN 1018-4813, 2016, Volume 24, Issue 10, pp. 1377 - 1387
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 07/2018, Volume 55, Issue 7, pp. 497 - 504
Journal Article