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Roger Williams University Law Review, ISSN 1090-3968, 06/2018, Volume 23, Issue 3, p. 660
Journal Article
Roger Williams University Law Review, ISSN 1090-3968, 06/2018, Volume 23, Issue 3, p. 660
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2017, Volume 49, Issue 4, pp. 488 - 489
An international collaboration has assembled DNA samples and detailed phenotypic information from >13,000 individuals with a clinical diagnosis of either... 
DISABILITY | AUTISM | MUTATIONS | SPECTRUM | GENES | GENETICS & HEREDITY | Autism Spectrum Disorder - genetics | Developmental Disabilities - genetics | Humans | Intellectual Disability - genetics | Central nervous system diseases | Genotype | Genetic aspects | Nucleotide sequencing | Health aspects | Methods | DNA sequencing | Studies | Genomes | Mutation | Genes | Bias | Cost control
Journal Article
Nature Reviews Genetics, ISSN 1471-0056, 05/2018, Volume 19, Issue 5, p. 325
Journal Article
Nature Reviews Genetics, ISSN 1471-0056, 05/2018, Volume 19, Issue 5, p. 253
Journal Article
Nature Reviews Genetics, ISSN 1471-0056, 05/2018, Volume 19, Issue 5, pp. 325 - 325
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2014, Volume 57, Issue 8, pp. 369 - 380
Journal Article
Current Opinion in Biotechnology, ISSN 0958-1669, 2011, Volume 22, pp. S16 - S16
Journal Article
Current Opinion in Biotechnology, ISSN 0958-1669, 2011, Volume 22, pp. S21 - S21
Journal Article
Nature Reviews Genetics, ISSN 1471-0056, 05/2018, Volume 19, Issue 5, pp. 253 - 268
The majority of rare diseases affect children, most of whom have an underlying genetic cause for their condition. However, making a molecular diagnosis with... 
ONSET CONDITIONS | INCIDENTAL FINDINGS | COST-EFFECTIVENESS | ONLINE MENDELIAN INHERITANCE | ARRAY-CGH | GENETICS & HEREDITY | AMERICAN-COLLEGE | MEDICAL GENETICS | VARIANT | GENETIC RISK SCORE | CLINICAL EXOME | Disease | Genomics | Genetic diversity | Children | Diagnosis | Medical diagnosis | Population genetics
Journal Article
Journal Article
Trends in Genetics, ISSN 0168-9525, 2005, Volume 21, Issue 5, pp. 249 - 253
Autosomal trisomy is a common cause of human miscarriage, malformations and learning disability. Primary gene-dosage effects have been confirmed by recent... 
CHROMOSOME | ORIGIN | TS1CJE | ABNORMALITIES | DOWN-SYNDROME | MOUSE MODEL | GENETICS & HEREDITY | PHENOTYPES | EXPRESSION | BRAIN | Trisomy | Down Syndrome - metabolism | Humans | Chromosome Aberrations | Down Syndrome - genetics | Gene Expression Regulation | Abnormalities, Multiple | Transcription, Genetic | Gene Dosage
Journal Article
Lancet, The, ISSN 0140-6736, 2015, Volume 385, Issue 9975, pp. 1305 - 1314
Journal Article
Nature reviews. Genetics, ISSN 1471-0056, 05/2018, Volume 19, Issue 5, p. 325
This corrects the article DOI: 10.1038/nrg.2017.116. 
Medical diagnosis | Children
Journal Article
Journal Article