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The American Journal of Sports Medicine, ISSN 0363-5465, 3/2010, Volume 38, Issue 3, pp. 594 - 599
Journal Article
International Journal of Oral & Maxillofacial Surgery, ISSN 0901-5027, 2014, Volume 44, Issue 3, pp. 308 - 315
Journal Article
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
Journal Article
Current Opinion in Biotechnology, ISSN 0958-1669, 2011, Volume 22, Issue 5, pp. 721 - 725
Journal Article
STEM CELLS, ISSN 1066-5099, 05/2017, Volume 35, Issue 5, pp. 1365 - 1377
Journal Article
MEDICINE, ISSN 0025-7974, 10/2019, Volume 98, Issue 40, p. e17226
Rationale: Bone malformation occurs in 10% to 25% neurofibromatosis type 1 (NF-1) patients, and the manifestations are scoliosis, congenital arch and... 
MEDICINE, GENERAL & INTERNAL | bone defect | TIBIA | neurofibromatosis type 1 | X-ray | CONGENITAL PSEUDOARTHROSIS | osteolysis | CHILDREN
Journal Artic