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Annual Review of Medicine, ISSN 0066-4219, 01/2013, Volume 64, p. 441
  In the past decade, we have witnessed a flood of reports about mutations that cause or contribute to intellectual disability (ID). This rapid progress has... 
Genotype & phenotype | Learning disabilities | Mutation | Chromosomes | Psychiatry
Journal Article
Annual Review of Medicine, ISSN 0066-4219, 01/2013, Volume 64, pp. 441 - 441
In the past decade, we have witnessed a flood of reports about mutations that cause or contribute to intellectual disability (ID). This rapid progress has been... 
Reviews | Etiology | Mutation | Floods | Mental retardation | Neurotransmission
Journal Article
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 10/2012, Volume 32, Issue 10, pp. 986 - 995
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2008, Volume 16, Issue 1, pp. 79 - 88
Journal Article
Obstetrical & Gynecological Survey, ISSN 0029-7828, 02/2013, Volume 68, Issue 2, pp. 93 - 95
Microarray analysis can detect large chromosome imbalances identified by karyotyping as well as smaller alterations less than 10 Mb in size. However, detection... 
Journal Article
Human Mutation, ISSN 1059-7794, 10/2013, Volume 34, Issue 10, pp. 1415 - 1423
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2010, Volume 152A, Issue 4, pp. 1016 - 1019
Loeys-Dietz syndrome (LDS, OMIM # 609192) caused by heterozygous mutations in TGFBR1 and TGFBR2 has recently been described as an important cause of familial... 
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2013, Volume 161, Issue 4, pp. 717 - 731
Journal Article