Scholay

学术搜索 · AI 审稿 · LaTeX 协作

Annette Orsborn

机构:Women's and Children's Hospital

发表论文 7 篇 · 总被引 1338 次 · h-index 7

代表论文

  • Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. (1997 · Cell · 被引 666)
  • Development of a highly sensitive assay, based on the polymerase chain reaction, for rare B‐lymphocyte clones in a polyclonal population (1990 · British Journal of Haematology · 被引 214)
  • Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome (1995 · Nature Genetics · 被引 152)
  • Human alpha-L-iduronidase: cDNA isolation and expression. (1991 · Proceedings of the National Academy of Sciences · 被引 152)
  • The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3. (1993 · PubMed · 被引 77)
  • A High-Resolution Genetic Map of the Familial Mediterranean Fever Candidate Region Allows Identification of Haplotype-Sharing among Ethnic Groups (1997 · Genomics · 被引 49)