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velo-cardio-facial syndrome

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Date: 2017
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/1330073
Description: Objectives: 22q11.2 deletion syndrome (22q11DS), a complex genetic syndrome associated with more than 180 features, presents complex challenges for parents including gaining a diagnosis. This phenomen... More
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Reviewed: Reviewed
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Creators: Goodwin, Jane
Date: 2017
Language: eng
Resource Type: thesis
Identifier: http://hdl.handle.net/1959.13/1335411
Description: Research Doctorate - Doctor of Philosophy (PhD)
Full Text: Full Text
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Date: 2017
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/1330164
Description: The presentation of 22q11.2 deletion syndrome (22q11DS) is symptomatically variable presenting diagnostic challenges for paediatricians, and anxious uncertainty in parents. The ‘lived’ experience of p... More
Reviewed: Reviewed
Date: 2015
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/1335531
Description: Background: Social difficulties are often noted among people with intellectual disabilities. Children and adults with 22q.11.2 deletion syndrome (22q11DS) often have poorer social competence as well a... More
Reviewed: Reviewed
Date: 2011
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/937090
Description: People with 22q11.2 deletion syndrome (22q11DS) have deficits in face emotion recognition. However, it is not known whether this is a deficit specific to faces, or represents maladaptive information p... More
Reviewed: Reviewed
Date: 2010
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/928838
Description: Objective: Velo-cardio-facial syndrome or 22q11.2 deletion syndrome (22q11DS) is the most common known microdeletion syndrome. One of the genes in the deleted region is the catechol-O-methyltransferas... More
Reviewed: Reviewed
Date: 2009
Resource Type: journal article
Identifier: uon:7676
Description: Background: 22q11.2 deletion syndrome (22q11DS) is associated with intellectual disability, poor social interaction and a high prevalence of psychosis. However, to date there have been no studies comp... More
Reviewed: Reviewed
Date: 2009
Resource Type: journal article
Identifier: uon:7991
Description: 22q11.2 deletion syndrome (22q11DS) is a genetic disorder associated with a microdeletion of chromosome 22q11. In addition to high rates of neuropsychiatric disorders such as schizophrenia and attenti... More
Reviewed: Reviewed
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