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Journal Article
European journal of human genetics, ISSN 1018-4813, 2016, Volume 24, Issue 10, pp. 1377 - 1387
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 03/2016, Volume 17, Issue 1, pp. 20 - 20
Background: Silver-Russell syndrome (SRS) is a growth retardation disorder with a very broad molecular and clinical spectrum. Whereas the association of SRS... 
Updmat | Uniparental disomy | Temple syndrome | Silver-Russell syndrome | Genomic imprinting | METHYLATION | EXTENSION MS-SNUPE | updmat | GENETICS & HEREDITY | UPD | LOCI | IMPRINTING DISORDERS | Phenotype | Genetic aspects | Methylation | Chromosomes | Index Medicus
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2016, Volume 170, Issue 1, pp. 283 - 284
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2015, Volume 167, Issue 5, pp. 1121 - 1124
Journal Article
Frontiers in Pediatrics, ISSN 2296-2360, 2018, Volume 6, p. 116
Background: Congenital diaphragmatic hernia (CDH) is a rare defect of the diaphragm commonly associated with high morbidity and mortality due to lung... 
Beckwith-Wiedemann syndrome | Congenital diaphragmatic hernia | Methylation status | Partial trisomy | 11p15 duplication | CDH | De novo | BWS | BECKWITH-WIEDEMANN-SYNDROME | ANOMALIES | de novo | methylation status | congenital diaphragmatic hernia | PEDIATRICS | partial trisomy | Hernia | Genetic aspects | Research | Diaphragm | Chromosomes
Journal Article