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37篇 您的检索式：作者名="SHEFFIELD VC"

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	题名	作者	年代	出处	被引量
1	Genetic linkage of fa- milial open angle glaucoma to chromosome lq21-q31 显示文摘	Sheffield VC Stone EM Alward WL	1993	Nat Genet1993，4，：	1
2	Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene显示文摘	Sheffield VC Vandenburgh K	1993	Nat Genet1993，3，：	1
3	The sensitivity of singlestrand conformation polymorphism analysis for the detection of single base substitutions显示文摘	Sheffield VC Beck JS K witek AE	1993	Genomics1993，16，：	1
4	Clinical characterization and link- age analysis of a family with congenital X-linked nystagmus and deuteranomaly显示文摘	MELLOTT ML BROWNJ JR FINGERT JH TAYLOR CM KEECH RV SHEFFIELD VC	1999	Arch Ophthalmol1999，117，12：	1
5	De novo mutations in the CRX homeobox gene associated with Leber congential amaurosis显示文摘	Wang QL Chen S Muskat BL Wiles CD Sheffield VC	1998	Nat Genet1998，18，4：	1
6	Attachment of a 40-base-pair G + C-rich sequence (GC-elamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes显示文摘	Sheffield VC Cox DR Lerman LS	1989	Proceedings of National Academy of Sciences of the United States of America1989，86，1：	1
7	(ienetic linkage offamilial open angle glaucoma to chromosome 1 q2 l-q31 显示文摘	Sheffield VC Slone EM Alward WL ct al	1993	NatGenet1993，4，1：	1
8	Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis 显示文摘	Sheffield VC Pierpont ME Nishimura D	1997	Hum Molec Genet1997，6，1：	1
9	Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome 显示文摘	Sheffield VC	2004	Pediatr Res2004，55，6：	1
10	Genetic linkage of familial open-angle glaucoma to chromosome 1q21-q23显示文摘	Sheffield VC Stone EM Alward WLM	1993	Nat Genet1993，4，：	1
11	Attachment of a 40-base-pair G+C-rich sequence (GC-clamp) to genomic DNA fragments by the palymerase chain reaction results in improved detection of single-base changes显示文摘	Sheffield VC Cox DR Lerman LS	1989	Proc Natl Acad Sci USA1989，86，1：	1
12	The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions显示文摘	Sheffield VC Beck JS Kwitek AE	1993	Genomics1993，16，2：	1
13	Attachment of a 40-base-pair G+C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes显示文摘	Sheffield VC Cox DR Lerman LS	1989	Proceedings of the National Academy of Sciences of the United States of America1989，，：	1
14	Attachment of a 40-basepair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of singlebase changes显示文摘	Sheffield VC Cox DR Lerman LS	1989	Proc Natl Acad Sci USA1989，86，1：	1
15	Pendred syndrome mapsto chromosome 7q21 -- 34 and is caused by an intrinsic defect in thyroid iodine organification显示文摘	Sheffield VC Kraiem Z Beck JC	1996	Nat Genet1996，12，：	1
16	Myocilin glaucoma 显示文摘	Fingert JH Stone EM Sheffield VC	2002	Surv Ophthalmol2002，47，6：	1
17	Functional differences of the PDS gene product are associated with phenotyp-ic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4)显示文摘	Scott DA Wang R Kreman TM Andrews M McDonald JM Bishop JR Smith RJH Karniski LP Sheffield VC		0，，：	1
18	The Pendred syndrome gene encodes a chloride-iodide transport protein显示文摘	Scott DA Wang R Kreman TM Sheffield VC Karniski LP		0，，：	1
19	Pendred syndrome maps to chromosome and is caused by an intrinsic defect in thyroid iodine organification 显示文摘	Sheffield VC Kraiem Z Beck JC	1996	Nat Genet1996，12，5：	1
20	Novel approaches to linkage mapping显示文摘	Sheffield VC Nishimura DY Stone EM	1995	Curr Opin Genet Dev1995，5，3：	1

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