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American Journal of Obstetrics and Gynecology, ISSN 0002-9378, 12/2017, Volume 217, Issue 6, pp. 691.e1 - 691.e6
Since its debut in 2011, cell-free fetal DNA screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data... 
amniocentesis | trisomy 13 | trisomy 21 | 47,XXY | noninvasive prenatal testing | noninvasive prenatal screening | 47,XXX | 47,XYY | cell-free DNA | NIPT | prenatal diagnosis | microdeletion syndrome | trisomy 18 | CHROMOSOMAL MICROARRAY | TRISOMIES 21 | FREE DNA | RISK | CLINICAL-EXPERIENCE | OBSTETRICS & GYNECOLOGY | FETAL ANEUPLOIDIES | Chromosome Disorders - blood | Predictive Value of Tests | Turner Syndrome - blood | Cri-du-Chat Syndrome - diagnosis | Humans | Angelman Syndrome - diagnosis | Sex Chromosome Disorders of Sex Development - genetics | Turner Syndrome - diagnosis | Sex Chromosome Disorders of Sex Development - blood | Trisomy 18 Syndrome - diagnosis | Cri-du-Chat Syndrome - genetics | Klinefelter Syndrome - blood | Klinefelter Syndrome - genetics | Sex Chromosome Aberrations | Microarray Analysis | Karyotyping | Down Syndrome - blood | Angelman Syndrome - genetics | Chorionic Villi Sampling | Chromosome Disorders - diagnosis | Prader-Willi Syndrome - genetics | Female | Down Syndrome - diagnosis | Amniocentesis | Prader-Willi Syndrome - diagnosis | Trisomy 13 Syndrome - genetics | Chromosomes, Human, X - genetics | Prader-Willi Syndrome - blood | Prenatal Diagnosis | In Situ Hybridization, Fluorescence | Cri-du-Chat Syndrome - blood | Pregnancy | Trisomy 18 Syndrome - blood | Sex Chromosome Disorders of Sex Development - diagnosis | Trisomy - diagnosis | Trisomy - genetics | Trisomy 13 Syndrome - blood | Cell-Free Nucleic Acids - blood | Trisomy 18 Syndrome - genetics | Down Syndrome - genetics | Klinefelter Syndrome - diagnosis | Turner Syndrome - genetics | Angelman Syndrome - blood | Trisomy 13 Syndrome - diagnosis | Chromosome Disorders - genetics | DNA microarrays | Medical screening | Pregnant women | Chromosomes | Analysis
Journal Article
Journal Article
Pediatric clinics of North America, ISSN 0031-3955, 04/2015, Volume 62, Issue 2, pp. 411 - 426
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2007, Volume 2, Issue 1, pp. 36 - 36
Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial... 
MEDICINE, RESEARCH & EXPERIMENTAL | CEREBRAL GIGANTISM | OVERGROWTH SYNDROMES | GENE | MICRODELETIONS | GROWTH | GENETICS & HEREDITY | NSD1 MUTATIONS | RISK | PHENOTYPES | CLINICAL-FEATURES | HAPLOINSUFFICIENCY | Development and progression | Care and treatment | Gigantism | Diagnosis
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2013, Volume 45, Issue 11, pp. 1293 - 1301
Journal Article
Molecular Syndromology, ISSN 1661-8769, 04/2012, Volume 2, Issue 3-5, pp. 202 - 212
Kleefstra syndrome is characterized by the core phenotype of developmental delay/intellectual disability, (childhood) hypotonia and distinct facial features.... 
Paper | 9q34.3 microdeletion | EHMT1 | Review | 9q subtelomeric deletion syndrome | Kleefstra syndrome
Journal Article