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Endocrinology and Metabolism Clinics of North America, ISSN 0889-8529, 06/2017, Volume 46, Issue 2, pp. 519 - 537
Although many next-generation sequencing platforms are being created around the world, implementation is facing multiple hurdles. A strong hurdle to the full... 
Genotype | Phenotype | Disorders of sex development | Genomic sequencing | DIAGNOSIS | DEFECTS | TECHNOLOGIES | NEWBORN | 46,XY DISORDERS | CGH | ENDOCRINOLOGY & METABOLISM | GENOME | Registries | Disorders of Sex Development - genetics | Electronic Health Records | Humans | Translational Medical Research
Journal Article
Genome Biology, ISSN 1474-7596, 11/2016, Volume 17, Issue 1, pp. 243 - 243
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2016, Volume 25, Issue 16, pp. 3446 - 3453
Journal Article
Nature Neuroscience, ISSN 1097-6256, 04/2015, Volume 18, Issue 5, pp. 690 - 697
The developing mammalian brain is destined for a female phenotype unless exposed to gonadal hormones during a perinatal sensitive period. It has been assumed... 
SPINE PLASTICITY | SEXUAL-DIFFERENTIATION | BEHAVIOR | MAST-CELLS | ESTRADIOL | ESTROGEN | RAT-BRAIN | EXPRESSION | NEUROSCIENCES | PROSTAGLANDIN-E2 | FEMALE | DNA (Cytosine-5-)-Methyltransferases - physiology | Nerve Tissue Proteins - deficiency | Nerve Tissue Proteins - analysis | Testosterone - physiology | Cytidine - pharmacology | Male | Copulation - drug effects | Brain - growth & development | Cytidine - analogs & derivatives | DNA (Cytosine-5-)-Methyltransferases - antagonists & inhibitors | Preoptic Area - physiopathology | Testosterone - pharmacology | Phthalimides - pharmacology | DNA Methylation | Gene Expression Regulation, Developmental | Tryptophan - analogs & derivatives | Nerve Tissue Proteins - biosynthesis | Female | Disorders of Sex Development - physiopathology | Estradiol - physiology | Nerve Tissue Proteins - antagonists & inhibitors | Nerve Tissue Proteins - physiology | DNA (Cytosine-5-)-Methyltransferases - deficiency | Microfilament Proteins - analysis | Rats | Sex Characteristics | DNA, Intergenic - genetics | Disorders of Sex Development - genetics | Nerve Tissue Proteins - genetics | Rats, Sprague-Dawley | DNA (Cytosine-5-)-Methyltransferases - genetics | Sex Differentiation - physiology | Copulation - physiology | Animals | Protein Isoforms - biosynthesis | CpG Islands | Mice | Tryptophan - pharmacology | Preoptic Area - enzymology | Protein Isoforms - genetics | Enzymes | Hormones, Sex | Regulation | Gene expression | Properties | Health aspects | Index Medicus
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2011, Volume 48, Issue 12, pp. 825 - 830
Journal Article
Journal Article
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 | Index Medicus | Abridged Index Medicus
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 01/2011, Volume 121, Issue 1, pp. 328 - 341
Journal Article