Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Kimberly Bentley"'
Autor:
Marc K. Halushka, Naiping Shen, Aravinda Chakravarti, Jian-Bing Fan, Kimberly Bentley, Linda Hsie, Richard S. Cooper, Robert J. Lipshutz, Alan B. Weder
Publikováno v:
Nature Genetics. 22:239-247
Sequence variation in human genes is largely confined to single-nucleotide polymorphisms (SNPs) and is valuable in tests of association with common diseases and pharmacogenetic traits. We performed a systematic and comprehensive survey of molecular v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eec2da3e579e481f1c0aba1365525856
https://doi.org/10.1038/10297
https://doi.org/10.1038/10297
Publikováno v:
Methods in enzymology. 353
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::719b553e44fce4911d73a70d4bafb9bf
https://pubmed.ncbi.nlm.nih.gov/12078521
https://pubmed.ncbi.nlm.nih.gov/12078521
Publisher Summary As the Human Genome Project and related efforts identify and determine the DNA sequences of human genes, it is important that highly reliable and efficient mechanisms be found to assess individual genetic variation. Three methods fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b39d7a4439eeb16754f325bfc242745c
https://doi.org/10.1016/s0076-6879(02)53071-8
https://doi.org/10.1016/s0076-6879(02)53071-8
Autor:
Kimberly Bentley, Aravinda Chakravarti, Marc K. Halushka, Misha Angrist, Stacey Bolk, Sudha Nallasamy
Publikováno v:
Scopus-Elsevier
Hirschsprung disease (HSCR), or congenital aganglionic megacolon, is the most frequent cause of congenital bowel obstruction. Germline mutations in the RET receptor tyrosine kinase have been shown to cause HSCR. Mice that carry null alleles for RET o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c88c43d6e98a7f535bb5cd5c474f5064
https://pubmed.ncbi.nlm.nih.gov/9881709
https://pubmed.ncbi.nlm.nih.gov/9881709
Autor:
Aravinda Chakravarti, Marc K. Halushka, Sudha Nallasamy, Kimberly Bentley, Gary M. Fox, Shuqian Jing, Misha Angrist, Stacey Bolk
Publikováno v:
Genomics. 48(3)
Congenital aganglionic megacolon, commonly known as Hirschsprung disease (HSCR), is the most frequent cause of congenital bowel obstruction. Germline mutations in the RET receptor tyrosine kinase have been shown to cause HSCR. Knockout mice for RET a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0079ab7ecc49c8334d655cca48cc1fa2
https://pubmed.ncbi.nlm.nih.gov/9545641
https://pubmed.ncbi.nlm.nih.gov/9545641
Autor:
Steiner, Kimberly Bentley
Publikováno v:
Academic Psychiatry; May/Jun2011, Vol. 35 Issue 3, p183-183, 1/4p