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The British Journal of Psychiatry : the Journal of Mental Science|April 26, 2018
Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disordersJohan H Thygesen, Kate Wolfe, Andrew McQuillin, et al.
Movement Disorders Clinical Practice|February 7, 2025
Prevalence of Parkinson's Disease in 22q11.2 Deletion Syndrome: A Multicenter StudyEmma N M M von Scheibler, Ann Swillen, Gabriela M Repetto, et al.
European Journal of Medical Genetics|August 14, 2016
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factorJeroen Breckpot, Marieke Vercruyssen, Eddy Weyts, et al.
The British Journal of Psychiatry : the Journal of Mental Science|January 4, 2019
Low prevalence of substance use in people with 22q11.2 deletion syndromeClaudia Vingerhoets, Mathilde J F van Oudenaren, Oswald J N Bloemen, et al.
Research Square|January 9, 2026
Multicenter retrospective study on effectiveness, reported side effects, and cognitive outcomes of SSRIs in 22q11.2 deletion syndromeCaren Latrèche, Valentina Mancini, Marija Dvojakovska, et al.
Human Molecular Genetics|December 1, 2006
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndromeGrégory Raux, Emilie Bumsel, Bernadette Hecketsweiler, et al.
Neurology|May 13, 2018
Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2Erik Boot, Nancy J Butcher, Sean Udow, et al.
JAMA Psychiatry|February 26, 2015
Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndromeJacob A S Vorstman, Elemi J Breetvelt, Sasja N Duijff, et al.
Nature Genetics|February 28, 2012
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndromeJeroen K J Van Houdt, Beata Anna Nowakowska, Sérgio B Sousa, et al.
American Journal of Human Genetics|April 17, 2018
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar AtaxiaClaire Guissart, Xenia Latypova, Paul Rollier, et al.
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