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23篇 您的检索式：作者名="Jabs EW"

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	题名	作者	年代	出处	被引量
1	Corneal tyrosine crystals in transient neonatal tyrosinemia 显示文摘	Driscoll D J Jabs EW Alcorn D	1988	J Pediatr1988，113，1：	1
2	TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders显示文摘	Splendore A Passos -Bueno MR Jabs EW	2002	Am J Med Genet2002，111，3：	1
3	Assignment of genes encoding a unique cytokine (IL12) composed of two unrelated subunits to chromosomes 3 and 5显示文摘	Sieburth D Jabs EW Warrington JA	1992	Genomics1992，14，1：	1
4	Human and mouse chromosomal mapping of the myeloid cell leukemia-1 gene:MCL1 maps to human chromosome 1q21,a region that is frequently altered in preneoplastic and neoplastic disease显示文摘	Craig RW Jabs EW Zhou P	1994	Genomics1994，23，：	1
5	Fibroblast Growth Factor Receptor 3 Mutations in Achondroplasia and Related Forms of Dwarfism显示文摘	Mlntosh I Bellus GA Jab EW	2007	Cell Struct Funct2007，25，2：	1
6	Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle 显示文摘	Splendore A Jabs EW Passos-Bueno MR	2002	J MedGenet2002，39，7：	1
7	A mutation in the homeodomain of the human Msx 2 gene in a family affected with autosomal dominant craniosynostosis显示文摘	Jabs EW Muller U Li X	1993	Cell1993，75，：	1
8	The pleiotropic effects of fibroblast frowth factor receptors in mammalian development 显示文摘	Mclntosh L Bellus GA Jab EW	2000	Cell Struct Funct2000，25，2：	1
9	The pleiotropic effects of fibro- blast growth factor receptors in mammalian development 显示文摘	Melntosh I Bellus GA Jab EW	2000	Cel[ Struct Funct2000，25，2：	1
10	Clinical spectrum of fibroblast growth factor receptormutations显示文摘	Passos-BuenomR Wilcox WR Jabs EW	1999	Hummutat1999，14，2：	1
11	Online mendelian inheritance in man (OMIM) as a knowledgebase for human developmental disorders 显示文摘	Boyadjiev SA Jabs EW	2000	Clin Genet2000，57，4：	1
12	The pleiotropic effects of fibroblast growth factor receptor recetors in mammalian development显示文摘	Bellus GA Jab EW	2000	Cell Struct Funct2000，25，25：	1
13	Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2显示文摘	Sutter TR Tang YM Hayes CL Wo YY Jabs EW Li X	1994	J Biol Chem1994，269，13：	1
14	Chromosimal localization of glutamate receptor genes:relationship to familial amyotrophic lateral sclerosis and other neurological disorders of mice and humans显示文摘	Gregor P Reeves RH Jabs EW	1993	Proc Natl Acad Sci USA1993，90，：	1
15	Assignment of genes encoding a unique cytokine ( IL12 ) composed of two unrelated subunits to chromosomes 3 and 5显示文摘	Sieburth D Jabs EW Warrington JA	1992	Genomics1992，14，1：	1
16	Clinical spectrum of fibroblast growth factor receptor mutations显示文摘	Passos-Bueno MR Wilcox WR Jabs EW Sertie AL Alonso LG Kitoh H	1999	Human Mutat1999，14，：	1
17	Syndrome of coronal eraniosynostosis, Klippel Feil anomaly, and Sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene显示文摘	Lowry RB Jabs EW Graham GE	2001	Am J Med Genet2001，104，2：	1
18	Corneal tyrosine crystals in transient neonatal tyrosinemia 显示文摘	Driscoll DJ Jabs EW Alcorn D	1988	J Pediatr1988，113，1：	1
19	The pleiotropic effects of fibroblast growth factor receptor recetors in mammalian development 显示文摘	Mclntosh I Bellus GA Jab EW	2000	Cell Struct Funct2000，25，25：	1
20	FGFR2 exon Ilia and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing 显示文摘	Meyers GA Day D Jabs EW	1996	Am J Hum Genet1996，58，：	1

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