导出
  • 排序
  • 显示
2. Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum SCIE SCOPUS

作者:Sukalo, M; Fiedler, A; Guzman, C; Spranger, S; Addor, MC; Mcheik, JN; Benavent, MO; Cobben, JM; Gillis, LA; Shealy, AG; Deshpande, C; Bozorgmehr, B; Everman, DB; Stattin, EL; Liebelt, J; Keller, KM; Bertola, DR; van Karnebeek, CDM; Bergmann, C; Liu, ZF; Duker, G; Rezaei, N; Alkuraya, FS; Ogur, G; Alrajoudi, A; Venegas-Vega, CA; Verbeek, NE; Richmond, EJ; Kirbiyik, O; Ranganath, P; Singh, A; Godbole, K; Ali, FAM; Alves, C; Mayerle, J; Lerch, MM; Witt, H; Zenker, M

作者机构:[Sukalo, Maja; Zenker, Martin] Univ Hosp Magdeburg, Inst Human Genet, D-39120 Magdeburg, Germany.; [Fiedler, Ariane; Zenker, Martin] Univ Hosp Erlan 更多

关键词:Aplasia of alae nasi; Cognitive impairment; Exocrine pancreatic insufficiency; Johanson-Blizzard syndrome; UBR1

来源:HUMAN MUTATION,2014,Vol.35,Issue.5

WOS被引频次:6

Scopus被引频次:12

ESI学科:MOLECULAR BIOLOGY & GENETICS

JCR分区:Q1

当年影响因子:5.34

最新一期影响因子:4.601

资源类型:外文期刊论文

3. Design and Validation of a Metabolic Disorder Resequencing Microarray (BRUM1) SCIE SCOPUS

作者:Bruce, CK; Smith, M; Rahman, F; Liu, ZF; McMullan, DJ; Ball, S; Hartley, J; Kroos, MA; Heptinstall, L; Reuser, AJJ; Rolfs, A; Hendriksz, C; Kelly, DA; Barrett, TG; MacDonald, F; Maher, ER; Gissen, P

作者机构:[Bruce, Christopher K.; Rahman, Fatima; Hartley, Jane; Barrett, Timothy G.; Maher, Eamonn R.; Gissen, Paul] Univ Birmingham, Sch Clin & Expt Med, Birm 更多

关键词:Metabolic; Microarray; Resequencing

来源:HUMAN MUTATION,2010,Vol.31,Issue.7

WOS被引频次:13

Scopus被引频次:16

ESI学科:MOLECULAR BIOLOGY & GENETICS

JCR分区:Q1

当年影响因子:5.956

最新一期影响因子:4.601

资源类型:外文期刊论文

TOP