Human Genome Epidemiology Literature Finder
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Records 1 - 5 (of 5 Records) |
| Query Trace: Disease and IKBKAP[original query] |
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| Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews. American journal of medical genetics 2002 Jul 110 (3): 253-7. Dong Jianli, Edelmann Lisa, Bajwa Asghar M, Kornreich Ruth, Desnick Robert |
| Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. Brain : a journal of neurology 2009 Oct 132 (Pt 10): 2699-711. Rotthier Annelies, Baets Jonathan, De Vriendt Els, Jacobs An, Auer-Grumbach Michaela, Lévy Nicolas, Bonello-Palot Nathalie, Kilic Sara Sebnem, Weis Joachim, Nascimento Andrés, Swinkels Marielle, Kruyt Moyo C, Jordanova Albena, De Jonghe Peter, Timmerman Vince |
| Fine mapping of the 9q31 Hirschsprung's disease locus. Human genetics 2010 Apr . Tang CS, Sribudiani Y, Miao XP, de Vries AR, Burzynski G, So MT, Leon YY, Yip BH, Osinga J, Hui KJ, Verheij JB, Cherny SS, Tam PK, Sham PC, Hofstra RM, Garcia-Barceló MM |
| Resequencing candidate genes implicates rare variants in asthma susceptibility. American journal of human genetics 2012 Feb 90 (2): 2. Torgerson DG, Capurso D, Mathias RA, Graves PE, Hernandez RD, Beaty TH, Bleecker ER, Raby BA, Meyers DA, Barnes KC, Weiss ST, Martinez FD, Nicolae DL, Ober C |
| Association between IKBKAP polymorphisms and Hirschsprung's disease susceptibility in Chinese children. Translational pediatrics 2022 Jun 11 (6): 789-796. Wang Ning, Xi Jiaojiao, Lan Chaoting, Wu Yuxin, Zhu Yun, Zuo Xiaoyu, Zhang Y |
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