Molecular analyses in Indonesian individuals with intellectual disability and microcephaly
نویسندگان
چکیده
منابع مشابه
Executive functions in individuals with intellectual disability.
The aim of the present study was to investigate executive functions in adults with intellectual disability, and compare them to a closely matched control group longitudinally for 5 years. In the Betula database, a group of adults with intellectual disability (ID, n=46) was defined from measures of verbal and non-verbal IQ. A control group, with two people for every person with intellectual disa...
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Healthcare delivery today reflects a history of change, which has responded to lifestyle changes, cultural diversity, population needs and expectations. In today's health-care environment it is crucial for health-care professionals to be mindful of cultural factors that affect health. These factors include the intricate interdependent biological, intellectual, psychological, social and spiritua...
متن کاملA homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.
We performed exome analysis in two affected siblings with severe intellectual disability (ID), microcephaly and spasticity from an Ashkenazi Jewish consanguineous family. We identified only one rare variant, a missense in SLC1A4 (c. 766G>A [p. E256K]), that is homozygous in both siblings but not in any of their 11 unaffected siblings or their parents (Logarithm of odds, LOD score: 2.6). This va...
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ژورنال
عنوان ژورنال: Paediatrica Indonesiana
سال: 2013
ISSN: 0030-9311,2338-4786
DOI: 10.14238/pi53.2.2013.05