Millar David S相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

The Human Gene Mutation Database (HGMD(®)): optimizing its use in a clinical diagnostic or research setting

人类基因突变数据库（HGMD®）：优化其在临床诊断或研究环境中的应用

期刊:Human Genetics

影响因子:3.6

doi:10.1007/s00439-020-02199-3

Stenson, Peter D; Mort, Matthew; Ball, Edward V; Chapman, Molly; Evans, Katy; Azevedo, Luisa; Hayden, Matthew; Heywood, Sally; Millar, David S; Phillips, Andrew D; Cooper, David N

发表日期：2020

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An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene

一例由线粒体基因组衍生的DNA序列插入PAFAH1B1 (LIS1)基因5'非翻译区引起的孤立性无脑回畸形病例

期刊:Human Genomics

影响因子:4.3

doi:10.1186/1479-7364-4-6-384

Millar, David S; Tysoe, Carolyn; Lazarou, Lazarus P; Pilz, Daniela T; Mohammed, Shehla; Anderson, Katharine; Chuzhanova, Nadia; Cooper, David N; Butler, Rachel

发表日期：2010

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Characterisation of a functional intronic polymorphism in the human growth hormone (GH1) gene.

人类生长激素（GH1）基因中功能性内含子多态性的特征分析

期刊:Human Genomics

影响因子:4.3

doi:10.1186/1479-7364-4-5-289

Millar David S, Horan Martin, Chuzhanova Nadia A, Cooper David N

发表日期：2010

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Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene

两姐妹患有雷特综合征，且MECP2基因中存在非同源的父系微缺失。

doi:10.1007/s11568-008-9026-9

Rosser, Lyndon G; McKee, Shane; Millar, David S; Archer, Hayley; Hughes, James; Butler, Rachel; Chuzhanova, Nadia; Cooper, David N; Lazarou, Lazarus P

发表日期：2008

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