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The New England Journal of Medicine, ISSN 0028-4793, 10/2012, Volume 367, Issue 14, pp. 1321 - 1331
Journal Article
Journal of Maternal-Fetal and Neonatal Medicine, ISSN 1476-7058, 2019, pp. 1 - 6
Recurrent miscarriage (RM) affects about 5% of pregnancies. Etiology of 30-50% RM cases remains unknown. Advanced highly sensitive detection and analysis... 
Genetic | recurrent miscarriage | NGS | microduplication | microdeletion
Journal Article
Cytogenetic and Genome Research, ISSN 1424-8581, 01/2019, Volume 156, Issue 3, pp. 144 - 149
Submicroscopic chromosomal alterations usually involve different protein-coding genes and regulatory elements that are responsible for rare contiguous gene... 
Novel Insights from Clinical Practice | Intellectual disability | CNTN6 | Autism spectrum disorder | Microdeletion/microduplication | Microdeletion | microduplication | GENETICS & HEREDITY | NB-3 | CELL BIOLOGY
Journal Article
Molecular syndromology, ISSN 1661-8769, 01/2019, Volume 9, Issue 6, pp. 324 - 327
We report a term male infant with congenital stridor secondary to tracheomalacia and a mild coarctation of the aorta. Developmental delay was noted upon... 
8p11.21 microduplication | Chromosomal microduplication | Congenital anomaly | Neonatal stridor | Short Report | Developmental delay
Journal Article
Journal of Developmental and Behavioral Pediatrics, ISSN 0196-206X, 01/2018, Volume 39, Issue 1, pp. 81 - 84
Ryan is a 5-year-old boy who was seen in a Developmental Behavioral Pediatrics clinic for disruptive behavior and developmental delay. His medical history was... 
myelin transcription factor 1-like gene | functional disabilities | microduplication of 2p25.3 | Autism with microduplication | Case studies | Chromosome abnormalities | Obesity in children | Developmental delay | Child psychopathology
Journal Article
JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS, ISSN 0196-206X, 01/2018, Volume 39, Issue 1, pp. 81 - 84
CASE: Ryan is a 5-year-old boy who was seen in a Developmental Behavioral Pediatrics clinic for disruptive behavior and developmental delay. His medical... 
INTELLECTUAL DISABILITY | MANAGEMENT | MICROARRAY | MYT1L | microduplication of 2p25.3 | PSYCHOLOGY, DEVELOPMENTAL | Autism with microduplication | AUTISM SPECTRUM DISORDER | myelin transcription factor 1-like gene | BEHAVIORAL SCIENCES | PEDIATRICS | functional disabilities
Journal Article
American Journal of Psychiatry, ISSN 0002-953X, 2/2012, Volume 169, Issue 2, pp. 195 - 204
Journal Article