Publication date | Communities | Collections | Article title | Author(s) | Journal/Conference |
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2 Dec 2010 | BMRC | Institute of Medical Biology | Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling | Jing Tian, Ling Ling, Mohammad Shboul, Hane Lee, Brian O'Connor, Barry Merriman, Stanley F. Nelson, Simon Cool, Osama H. Ababneh, Azmy Al-Hadidy, Amira Masri, Hanan Hamamy, Bruno Reversade | The American Journal of Human Genetics |