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Title | Authors / Editors | Date | |
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Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report | Al Hamami, Hanan; Makrythanasis, Periklis; Al-Allawi, Nasir; Muhsin, Abdulrahman A; Antonarakis, Stylianos | 2014 |
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Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration | van der Zee, Julie | 2014 |
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A systematic mapping approach of 16q12.2/FTO and BMI in more than 20,000 African Americans narrows in on the underlying functional variation: results from the Population Architecture using Genomics and Epidemiology (PAGE) study | Peters, Ulrike; North, Kari E; Sethupathy, Praveen; Buyske, Steve; ... Kooperberg, Charles | 2013 |
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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum | Kern, Ilse | 2011 |
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The NLR gene family: a standard nomenclature | Ting, Jenny P.-Y.; Lovering, Ruth C.; Alnemri, Emad S.; Bertin, John; ... Ward, Peter A. | 2008 |