维普期刊资源整合服务平台（V6.5）

34篇 您的检索式：作者名="Desviat"

选中清除导出查看参考文献查看引证文献引用追踪共2页首页上一页第1页下一页末页 /2 跳转

	题名	作者	年代	出处	被引量
1	Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain :molecular survey by regions显示文摘	Desviat LR	1999	Eur J Hum Genet1999，7，3：	1
2	Phenylketonuria: Genotypephenotype correlations based on expression analysis of structural and functional mutations in PAH显示文摘	Pey AL Desviat LR Gamez A	2003	Hum Mutat2003，21，4：	1
3	Structure of the PCCA gene and distribution of mutations causing propionic acidemia 显示文摘	Campeau E Desviat LR Leclerc D	2001	Mol Genet Metab2001，74，12：	1
4	Phenylketonuria in Spain :RFLP haplotypes and linked mutations显示文摘	Desviat LR Perez B Ugarte M	1993	Hum Genet1993，92，3：	1
5	Molecular Basis of Phenylkotonuria in Cubsa显示文摘	Desviat L R Perez B Gutienez E	2001	Human Mutation2001，18，3：	1
6	Propionic acidemia: Identification of twenty - four novel mutations in Europe and North America显示文摘	Perez B Desviat LR Rodriguez- Pombo P	2003	Mol Genet Metab2003，78，1：	1
7	Phenylketonuria:Genotypephenotype correlations based on expression analysis of structural and functional mutations in PAH显示文摘	Pey AL Desviat LR Gamez A	2003	Hum Mutat2003，21，4：	1
8	Quantitative a- nalysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis 显示文摘	RICHARD E MONTEOLIVA L JUAREZ S PEREZ B DESVIAT L R UGARTE M ALBAR J P	2006	J Proteome Res2006，5，7：	1
9	Phenylketcnuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH显示文摘	Pey AL Desviat LR Gamez A	2003	Hum Mutat2003，21，4：	1
10	Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations显示文摘	Pey AL Perez B Desviat LR	2004	Hum Murat2004，24，5：	1
11	Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes : is there any relationship between polymorphisms of the fo/ate pathway, matema/ homocysteine levels, and the risk for having a child with Down syndrome显示文摘	Martinez-Frias ML Perez B Desviat LR	2006	Am J Med Genet A2006，140，9：	1
12	Phenylketonuria:Genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH显示文摘	Pey AL Desviat LR Gamez A	2003	Hum Mutat2003，21，4：	1
13	Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria 显示文摘	Desviat LR P6rez-Cerd6 C P6rez B	2003	Mol Genet Metab2003，80，3：	1
14	Molecular basis of phenylketomuria in Venezuda: presence of two novel null mutations显示文摘	De Lucca M Perez B Desviat LR	1998	Hum Murat1998，11，5：	1
15	Surgical correction of disc pathology in fighter pilots:a review of 14 cases显示文摘	Vallejo Desviat P Esteban Benavides B López L6pez JA	2007	Aviation Space and Environmental Medicine2007，，：	1
16	Surgical correction of disc pathology in fighter pilots:a review of 14 cases显示文摘	Vallejo Desviat P Esteban Benavides B López López JA		0，，08：	1
17	Diffusion MRI in the study of hepatic lesions显示文摘	Vallejo Desviat P Martínez De Vega V Recio Rodríguez M	2004	J Exp Clin Cancer Res2004，23，：	1
18	Functional analysis of three splicing mutations identified in the PMMOL/L2 gene: toward a new therapy for congenital disorder ofglycosylation type 1A 显示文摘	Vega AI Perez-Cerda C Desviat LR	2009	Hum Mutat2009，30，5：	1
19	Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants显示文摘	Maninez MA Rinc6n A Desviat LR	2005	Mol Genet Metab2005，84，4：	1
20	Maternal polymorphisms 677C-T and 1298A-C o MTHFR, and 66A-G MTRR genes: is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome? 显示文摘	Martinez-Frias ML P6rez B Desviat LR	2006	Am J Med Genet A2006，140，9：	1

返回顶部每页显示：

共2页首页上一页第1页下一页末页 /2 跳转

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

用户提示