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PLoS Genetics, ISSN 1553-7390, 09/2009, Volume 5, Issue 9, p. e1000650
Cornelia de Lange Syndrome (CdLS) is a multi-organ system birth defects disorder linked, in at least half of cases, to heterozygous mutations in the NIPBL... 
SISTER-CHROMATID COHESION | CONTROL REGION | ENHANCER-BLOCKING ACTIVITY | NIPPED-B | CONGENITAL HEART-DISEASE | GENETICS & HEREDITY | GENE-EXPRESSION | ADIPOCYTE DIFFERENTIATION | OPHTHALMOLOGIC FINDINGS | BRACHMANN-DELANGE SYNDROME | MICE LACKING | Bone and Bones - pathology | Cadherins - metabolism | Craniofacial Abnormalities - physiopathology | Heart Defects, Congenital - genetics | Organ Specificity - genetics | Nervous System Malformations - physiopathology | Sister Chromatid Exchange | Craniofacial Abnormalities - pathology | Transcription, Genetic | Cadherins - genetics | Nervous System Malformations - genetics | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | De Lange Syndrome - genetics | Disease Models, Animal | Animals, Newborn | Embryo, Mammalian - pathology | De Lange Syndrome - physiopathology | Gene Expression Regulation | Heart Defects, Congenital - pathology | Bone Development | Transcription Factors - genetics | Mutation - genetics | Embryo, Mammalian - abnormalities | Phenotype | Animals | Heart Defects, Congenital - complications | Nervous System Malformations - complications | Survival Analysis | De Lange Syndrome - complications | Heterozygote | Heart Defects, Congenital - physiopathology | Mice | Bone and Bones - abnormalities | De Lange Syndrome - pathology | Proteins | Video recordings | Colleges & universities | Birth defects | Mutation | Behavior | Experiments | Chromosomes | DNA repair
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American journal of medical genetics. Part A, ISSN 1552-4825, 2017, Volume 173A, Issue 8, pp. 2108 - 2125
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Clinical Genetics, ISSN 0009-9163, 04/2017, Volume 91, Issue 4, pp. 647 - 649
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 08/2007, Volume 145C, Issue 3, pp. 248 - 260
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American Journal on Intellectual and Developmental Disabilities, ISSN 1944-7515, 07/2013, Volume 118, Issue 4, pp. 262 - 283
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