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Journal
2011, ISBN 9814273848, viii, 283
Book
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
2008, 3rd ed., ISBN 0816063966, xix, 682
Book
Journal Article
Birth Defects Research Part A: Clinical and Molecular Teratology, ISSN 1542-0752, 01/2013, Volume 97, Issue 1, pp. 28 - 35
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2017, Volume 12, Issue 6, p. e0177229
Objective To evaluate perinatal outcomes and congenital heart defect (CHD) prognosis in a non-selected population. Methods The population-based surveillance... 
POPULATION | MALFORMATIONS | MULTIDISCIPLINARY SCIENCES | DISEASE | DIAGNOSED IN-UTERO | FETUSES | PREGNANCY | Heart Defects, Congenital - classification | Prognosis | Humans | Infant | Male | Heart Septal Defects, Ventricular - physiopathology | Heart Septal Defects, Atrial - physiopathology | Heart Septal Defects, Atrial - diagnosis | Heart Septal Defects, Ventricular - mortality | Tetralogy of Fallot - mortality | Cardiomegaly - mortality | Cardiomegaly - diagnosis | Heart Septal Defects, Ventricular - diagnosis | Perinatal Mortality | Tetralogy of Fallot - diagnosis | Female | Infant, Newborn | Prenatal Diagnosis | Abnormalities, Multiple | Cardiomegaly - physiopathology | Heart Septal Defects, Atrial - mortality | Pregnancy | Heart Defects, Congenital - diagnosis | Heart Defects, Congenital - mortality | Heart Defects, Congenital - physiopathology | Tetralogy of Fallot - physiopathology | Congenital heart disease | Forecasts and trends | Medical statistics | Risk factors | Heart | Health care | Physicians | Syngeneic grafts | Congenital defects | Families & family life | Cardiovascular disease | Population studies | Infants | Information management | Birth | Medical diagnosis | Epidemiology | Arteries | Defects | Transposition | Education | Xenografts | Population | Diagnosis | Public health | Tetralogy of Fallot | Congenital diseases | Mortality | Fetuses | Birth defects | Survival | Childbirth & labor | Babies | Hospitals | Prenatal diagnosis | Surveillance | Ventricle
Journal Article
2006, 2nd ed., ISBN 0470090103, xiv, 547
The first edition of Embryos, Genes and Birth Defects, edited by the late Peter Thorogood, was a radical new book aimed at bridging the gap between the medical... 
Abnormalities, Human | Embryology, Human | Teratogeneis | Teratogenesis
Book