Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 3 (of 3 Records) |
Query Trace: Kartagener Syndrome[original query] |
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Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia. Human reproduction (Oxford, England) 2008 Aug 23 (8): 1957-62. Zuccarello D, Ferlin A, Cazzadore C, Pepe A, Garolla A, Moretti A, Cordeschi G, Francavilla S, Foresta |
Identification of Pathogenic Mutations and Investigation of the NOTCH Pathway Activation in Kartagener Syndrome. Frontiers in genetics 2019 10 749. Yue Yongjian, Huang Qijun, Zhu Peng, Zhao Pan, Tan Xinjuan, Liu Shengguo, Li Shulin, Han Xuemei, Cheng Linling, Li Bo, Fu Yingy |
A splice site and copy number variant responsible for TTC25-related primary ciliary dyskinesia. European journal of medical genetics 2021 3 64 (5): 104193. Backman K, Mears W E, Waheeb A, Beaulieu Bergeron M, McClintock J, de Nanassy J, Reisman J, Osmond M, Hartley T, Mears A J, Kernohan K D, |
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- Page last updated:May 20, 2024
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