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Journal
2011, ISBN 9814273848, viii, 283
Book
PLoS Genetics, ISSN 1553-7390, 09/2009, Volume 5, Issue 9, pp. e1000650 - 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 | Index Medicus | 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
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 | Embryo | Teratogeneis | Gene Expression Regulation, Developmental | Embryology, Human | abnormalities | Teratogenesis
Book
PLoS ONE, ISSN 1932-6203, 06/2017, Volume 12, Issue 6, pp. e0177229 - 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 | Index Medicus
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