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20篇 您的检索式:作者名="Krantz ID"
    题名 作者 年代 出处 被引量
1Clinical and molecular genetics of Alagille syndrome显示文摘Krantz ID Piccoli DA Spinner NB 1999Curr Opin Pediatr1999,11,6:1
2Occurrence and clinical features of epileptic and non epileptic paroxysmal events in five children with Pallister-Killian syndrome显示文摘Filloux FM Carey JC Krantz ID 2012European Journal of Medical Genetics2012,55,5:1
3Alagille syndrome is caused by mutations in human Jagged1,which encodes a ligand for Notch1显示文摘Li L Krantz ID Deng Y 1997Nat Genet1997,16,3:1
4Alagille syndrome is caused by mutations in human Jaggedl, which encodes a ligand for Notchl 显示文摘Li L Krantz ID Deng Y 1997Nat Genet1997,16,3:1
5Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance显示文摘Kline AD Krantz ID Sommer A 2007Arn J Med Genet A2007,143,:1
6Analysis of cardiovascular phenotype and genotype-phanotype correlation inindividuals with a JAG1 mutation and/or Alagille~syndrome显示文摘MeElhinney DB Krantz ID Bason L 2002Circulation2002,106,20:1
7Alagille syndrome is caused by mutations in human Jagged1,which encodes a ligand for Notch1显示文摘Li L Krantz ID Deng Y 1997Nat Genet1997,16,:1
8Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance显示文摘Kamath BM Krantz ID Spinner NB 2002Am J Med Genet2002,112,2:1
9Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notchl 显示文摘Li L Krantz ID Deng Y 1997Nat Genet1997,16,3:1
10Cornelia de Lange syndrome, cohesin, and beyond显示文摘Liu J Krantz ID 2009ClinGenel2009,76,4:1
11Alagille syndrome is caused by mutations in human Jaggedl, which encodes a ligand for Notchl 显示文摘Li L Krantz ID Deng Y 1997Nat Genet1997,16,3:1
12Pallister-Killian syndrome显示文摘Izumi K Krantz ID 2014American Journal of Medical genetics : Part C Seminars in Medical Ge- netics2014,166,4:1
13Alagille syndrome is caused by mutations in human Jagged1,which encodes a ligand for Notch1显示文摘Li L Krantz ID Deng Y 1997Nat Genet1997,16,3:1
14Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome显示文摘McElhinney DB Krantz ID Bason L 2002Circulation2002,106,20:1
15Alagille syndrome is caused by mutations in human Jaggedl,which encodes a ligand for Notehl显示文摘Li L Krantz ID Deng Y 1997Nat Genet1997,16,3:1
16Somatic mosacism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency显示文摘Coughlin CN Krantz ID Schmitt ES 2010Mol Genet Metab2010,100,:1
17Cohesin and human disease显示文摘Liu J Krantz ID 2008Ann Rev Genom Hu- man Genet2008,9,:1
18Genome-wide SNP geno-typing identifies the Stereocilin (STRC) gene as a major contribu-tor to pediatric bilateral sensorineural hearing impairment显示文摘Francey LJ Conlin LK Kadesch HE Clark D Berrodin D Sun Y Glessner J Hakonarson H Jalas C Landau C Spinner NB Kenna M Sagi M Rehm HL Krantz ID 0,,02:1
19Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core com- ponent of cohesin in human disease 显示文摘Mannini L Liu J Krantz ID 2010Hum Mutat2010,31,1:1
20KILLER/DR5 is a DNA damage-inducible p53-tegulated death receptor gene 显示文摘Wu GS Bums TF McDonald ER 3rd Jiang W Meng R Krantz ID 1997Nat Genet1997,17,2:1
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