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The New England Journal of Medicine, ISSN 0028-4793, 10/2012, Volume 367, Issue 14, pp. 1321 - 1331
Journal Article
Obstetrical & Gynecological Survey, ISSN 0029-7828, 09/2011, Volume 66, Issue 9, pp. 547 - 549
The first information given to parents of children with newly diagnosed Down syndrome has a major impact on adaptation to the diagnosis and subsequent decision... 
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2017, Volume 101, Issue 2, pp. 206 - 217
Journal Article
Journal of Genetic Counseling, ISSN 1059-7700, 12/2007, Volume 16, Issue 6, pp. 731 - 734
Journal Article
Journal of Genetic Counseling, ISSN 1059-7700, 12/2007, Volume 16, Issue 6, pp. 731 - 734
Sharing the news about a newborn baby's diagnosis of Down syndrome with families is a scenario genetic counselors frequently face. Yet often we may feel... 
Genetic counseling | Unexpected news | Down syndrome
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2011, Volume 155, Issue 6, pp. 1246 - 1257
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 10/2012, Volume 367, Issue 14, p. 1321
The article discusses about copy-number variants, which are associated with genomic disorder with extreme phenotypic heterogeneity, whose variation is unknown... 
Care and treatment | Phenotype | Genetic disorders | Diagnosis | Research | Genetic variation
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 03/2010, Volume 86, Issue 3, p. 462
Nonallelic homologous recombination (NAHR) can mediate recurrent rearrangements in the human genome and cause genomic disorders. Smith-Magenis syndrome (SMS)... 
Genetic disorders | Genomics | Mutation | Genetic recombination | Gene expression | Deoxyribonucleic acid--DNA
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2017, Volume 173, Issue 6, pp. 1539 - 1545
Journal Article
Journal Article