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Date: 2010
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/927870
Description: Background: Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males. Mutations in the protocadherin 19 ... More
Reviewed: Reviewed
Date: 2009
Resource Type: journal article
Identifier: uon:7942
Description: Large-scale systematic resequencing has been proposed as the key future strategy for the discovery of rare, disease-causing sequence variants across the spectrum of human complex disease. We have sequ... More
Reviewed: Reviewed
Date: 2008
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/43193
Description: Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and resembling Angelman sy... More
Reviewed: Reviewed
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