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2007, American journal of medical genetics., Volume 145C, no. 4., 323-398
Book
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2014, Volume 166, Issue 4, pp. 397 - 405
Journal Article
Nature Medicine, ISSN 1078-8956, 03/2019, Volume 25, Issue 3, pp. 361 - 362
Non-invasive prenatal diagnostics allow for the successful identification of paternally inherited and de novo mongenic diseases using circulating cell-free DNA. 
MEDICINE, RESEARCH & EXPERIMENTAL | ANEUPLOIDY | DNA | BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL BIOLOGY | Medical colleges | Care and treatment | Genetic disorders | Pregnant women | Analysis | Research | Health aspects | Deoxyribonucleic acid--DNA
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2015, Volume 97, Issue 1, pp. 6 - 21
In 1995, the American Society of Human Genetics (ASHG) and American College of Medical Genetics and Genomics (ACMG) jointly published a statement on genetic... 
INCIDENTAL FINDINGS | REPRODUCTIVE BENEFIT | GENETICS & HEREDITY | DEVELOPMENTAL-DISABILITIES | CYSTIC-FIBROSIS | HEALTH | TAY-SACHS-DISEASE | CARRIER STATUS | CARE | PRENATAL-DIAGNOSIS | SCREENING-PROGRAM | Laws, regulations and rules | Youth | Teenagers | Children | Management | Health aspects | Genetic screening | Ethical aspects | Medical ethics
Journal Article
Human Mutation, ISSN 1059-7794, 07/2012, Volume 33, Issue 7, pp. v - v
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2010, Volume 86, Issue 5, pp. 749 - 764
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 01/2018, Volume 38, Issue 1, pp. 26 - 32
Journal Article
Journal of Autism and Developmental Disorders, ISSN 0162-3257, 5/2017, Volume 47, Issue 5, pp. 1453 - 1463
Despite increasing utilization of chromosomal microarray analysis (CMA) for autism spectrum disorders (ASD), limited information exists about how results... 
Autism spectrum disorders | Pediatrics | Child and School Psychology | Neurosciences | Public Health | Causation beliefs | Psychology | Parental expectations | Chromosomal microarray analysis | Genomic testing | Genetic determinism
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2006, Volume 79, Issue 1, pp. 169 - 173
Alagille syndrome (AGS) is caused by mutations in the gene for the Notch signaling pathway ligand Jagged1 ( ), which are found in 94% of patients. To identify... 
HEART | DEFECTS | GENE | ARTERIOHEPATIC DYSPLASIA | GENETICS & HEREDITY | RECEPTOR | LIGAND | EXPRESSION | HUMAN JAGGED1 | Alagille Syndrome - genetics | Signal Transduction | Pedigree | Humans | Receptor, Notch2 - metabolism | Female | Male | Receptor, Notch2 - genetics | Mutation | Genetic aspects | Diagnosis | Research | Gene mutations | Alagille syndrome | Report
Journal Article