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BMC Medical Genetics, ISSN 1471-2350, 05/2014, Volume 15, Issue 1, pp. 52 - 52
Journal Article
Journal Article
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 07/2017, Volume 174, Issue 5, pp. 547 - 556
Journal Article
Journal Article
Scientific Reports, ISSN 2045-2322, 10/2015, Volume 5, Issue 1, p. 15454
Journal Article
Clinical genetics, ISSN 0009-9163, 03/2019
Neurexins are presynaptic cell adhesion molecules critically involved in synaptogenesis and vesicular neurotransmitter release. They are encoded by three genes... 
Journal Article
Molecular Syndromology, ISSN 1661-8769, 02/2016, Volume 6, Issue 5, pp. 236 - 241
A novel 19.98-Mb duplication in chromosome Xp22.33p22.12 was detected by array CGH in a 30-year-old man affected by intellectual disability, congenital... 
Original Article | Dysmorphic facial features | Duplication Xp22.33p22.12 | Intellectual disability | Original
Journal Article
Molecular Syndromology, ISSN 1661-8769, 01/2019, Volume 9, Issue 5, pp. 247 - 252
We describe a 32-year-old male patient diagnosed with high-functioning autism spectrum disorder carrying a de novo 196-kb interstitial deletion at chromosome... 
Novel Insights from Clinical Practice | Intellectual disability | High-functioning autism | CDK5R1 | Haploinsufficiency
Journal Article
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