Gene hunt is on for mental disability Pioneering clinical genome-sequencing projects focus on patients with developmental delay.

EWEN CALLAWAY

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Gene hunt is on for mental disability Pioneering clinical genome-sequencing projects focus on patients with developmental delay.

机译：精神障碍患者正在寻找基因。开拓性的临床基因组测序项目专注于发育迟缓的患者。

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Medical geneticists are giving genome sequencing its first big test in the clinic by applying it to some of their most baffling cases. By the end of this year, hundreds of children with unexplained forms of intellectual disability and developmental delay will have had their genomes decoded as part of the first large-scale, national clinical sequencing projects.

机译：医学遗传学家正在将基因组测序应用到他们最困惑的一些案例中，这是临床上基因组测序的首次重大测试。到今年年底，作为第一个大规模的全国性临床测序项目的一部分，数百名患有无法解释的智力障碍和发育迟缓的儿童的基因组将被解码。

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《Nature》 |2012年第7394期|p.302-303|共2页
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EWEN CALLAWAY;
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收录信息美国《科学引文索引》(SCI);美国《工程索引》(EI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
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2. Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. [J] . Upadhyaya M, Ruggieri M, Maynard J, Human Genetics . 1998,第5期

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6. Cytogenetic findings indicate heterogeneity in patients with blepharophimosis epicanthus inversus and developmental delay. [O] . M Warburg, M Bugge, K Brøndum-Nielsen 1995

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8. Deinstitutionalization of Mentally Retarded and Other Developmentally Disabled Persons: Lessons from the Experience of Five States. Volume 1. The Developmental Disabilities Service System in Connecticut [R] . Harmon, C. , Friday, G. , Joe, T. , 1979

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Gene hunt is on for mental disability Pioneering clinical genome-sequencing projects focus on patients with developmental delay.

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