维普期刊资源整合服务平台（V6.5）

维普中文期刊产品整合服务

15篇 您的检索式：作者名="Shaag"

选中清除导出查看参考文献查看引证文献引用追踪共1页首页上一页第1页下一页末页 /1 跳转

		题名	作者	年代	出处	被引量
	1	Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia 显示文摘	Edvardson S Shaag A Kolesnikova O	2007	Am J Hum Genet2007，81，4：	1
	2	A deleterious mutation in the LOXHD1gene causes autosomal recessive hearing loss in Ashkenazi Jews显示文摘	EDVARDSON S JALAS C SHAAG A	2011	Am J Med Genet A2011，155，：	1
	3	Cone and rod dysfunction in the NARP syndrome 显示文摘	Chowers I Lerman-Sagie T Elpeleg ON Shaag A Merin S	1999	Br J Ophthalmol1999，83，2：	1
	4	Mutations in LPINI cause recurrent acute myoglobinuria in childhood 显示文摘	Zeharia A Shaag A Houtkooper R H	2008	Am J Human Genetics2008，10，83：	1
	5	SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis显示文摘	Spiegel R Shaag A Edvardson S	2009	Ann Neurol2009，66，3：	1
	6	Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation显示文摘	Edvardson S Shaag A Zenvirt S	2010	Am J Hum Genet2010，86，1：	1
	7	Ca^2+/calmodulin modulates TRPV1 activation by capsaicin显示文摘	Rosenbaum T Gordon Shaag A Munari M	2004	J Gen Physiol2004，123，1：	1
	8	Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis显示文摘	Erlich Y Edvardson S Hodges E Zenvirt S Thekkat P Shaag A Dor T Hannon GJ Elpeleg O		0，，：	1
	9	Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type ! 显示文摘	Elpeleg O N Shaag A Holme E	2002	Human Mutation2002，19，1：	1
	10	Antenatal mitoehondrial disease caused by mitochondrial ribosomal protein (h4RPS22) mutation显示文摘	Saada A Shaag A Arnon S	2007	J MedGenet2007，44，12：	1
	11	Antenatal mitochondrial diseasecaused by mitochondrial ribosomal protein(MRPS22) mutation显示文摘	Saada A Shaag A Arnon S	2007	JMed Genet2007，44，12：	1
	12	Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood显示文摘	Avraham Zeharia Avraham Shaag Riekelt H. Houtkooper Tareq Hindi Pascale de Lonlay Gilli Erez Laurence Hubert Ann Saada Yves de Keyzer Gideon Eshel Frédéric M. Vaz Ophry Pines Orly Elpeleg	2008	The American Journal of Human Genetics2008，，4：	1
	13	Deleterious mutation inthe mitochondrial arginyl-transfer RNA synthetase gene is associatedwith pontocerebellar hypoplasia 显示文摘	Edvardson S Shaag A Kolesnikova O	2007	AmJ Hum Genet2007，81，4：	1
	14	Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids显示文摘	Ben-Shalom E Kobayashi K Shaag A		0，，03：	1
	15	Mutation analysis of the MCM gene in Israeli patients with mut (0) disease 显示文摘	Berger I Shaag A Anikster Y Baumgartner ER Bar-Meir M Joseph A	2001	Mol Genet Metab2001，73，1：	1

返回顶部每页显示：

共1页首页上一页第1页下一页末页 /1 跳转

goolge学术搜索-维普

网站首页 | 关于我们 | 联系我们 | 产品服务 | 客服中心 | 广告服务 | 版权声明 | 网站联盟 | 友情链接 | 售卡网点

版权所有© 渝B2-20050021-1　渝公网安备 50019002500403号　违法和不良信息举报中心

互联网出版许可证新出网证(渝)字10号全国400电话 - 免长途话费