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genetics & heredity (12) 12
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de lange syndrome - genetics (11) 11
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19p interstitial deletion (1) 1
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European Journal of Human Genetics, ISSN 1018-4813, 2011, Volume 19, Issue 4, pp. 394 - 399
Journal Article
Annals of Human Genetics, ISSN 0003-4800, 03/2019, Volume 83, Issue 2, pp. 100 - 109
Cornelia de Lange syndrome (CdLS) is a genetically and clinical heterogeneous condition characterized by congenital malformation, intellectual disability, and... 
19p interstitial deletion | Cornelia de Lange | 19p13 | BRD4 | MICRODELETION | GENETICS & HEREDITY | INSIGHTS | DELETION | Chromosome 19 | Genotype & phenotype | Phenotypes | Clonal deletion | Congenital defects | Genes | Chromosome 12 | Mutation | Gene deletion | Genotypes | Haploinsufficiency
Journal Article
Cytogenetic and Genome Research, ISSN 1424-8581, 05/2019, Volume 157, Issue 3, pp. 135 - 140
We report a patient with developmental delay, brachydactyly type E, short stature, and tetralogy of Fallot. Brachydactyly-mental retardation syndrome (BDMR)... 
Novel Insights from Clinical Practice | SHOX | Brachydactyly-mental retardation syndrome | Dual molecular diagnosis | HDAC8 | BRACHYDACTYLY TYPE-E | MENTAL-RETARDATION | CLINICAL SPECTRUM | FEATURES | DELETION | CELL BIOLOGY | CORNELIA | GENETICS & HEREDITY | MUTATIONS
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2018, Volume 50, Issue 3, pp. 329 - 332
Journal Article
Human mutation, ISSN 1059-7794, 2015, Volume 36, Issue 4, pp. 454 - 462
Journal Article
Journal Article
Journal Article
Clinical Genetics, ISSN 0009-9163, 07/2015, Volume 88, Issue 1, pp. 99 - 100
Journal Article
2019
Acetylation of lysine residues is a histone modification associated with active chromatin. The modified residues provide docking sites for the epigenetic... 
cohesin | CdLS | Cornelia de Lange Syndrome | BRD4
Dissertation
American Journal of Medical Genetics, ISSN 0148-7299, 12/2001, Volume 104, Issue 4, pp. 267 - 276
Journal Article
Clinical Genetics, ISSN 0009-9163, 06/1995, Volume 47, Issue 6, pp. 324 - 327
Journal Article