Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma. Investigative ophthalmology & visual science 2015 Aug 56 (9): 5087-93. Gharahkhani Puya, Burdon Kathryn P, Hewitt Alex W, Law Matthew H, Souzeau Emmanuelle, Montgomery Grant W, Radford-Smith Graham, Mackey David A, Craig Jamie E, MacGregor Stua |
Array CGH as a first-tier test for neonates with congenital heart disease. Cardiology in the young 2015 Jan 25 (1): 115-22. Bachman Kristine K, DeWard Stephanie J, Chrysostomou Constantinos, Munoz Ricardo, Madan-Khetarpal Sunee |
A protocol for the identification and validation of novel genetic causes of kidney disease. BMC nephrology 2015 16 (1): 152. Mallett Andrew, Patel Chirag, Maier Barbara, McGaughran Julie, Gabbett Michael, Takasato Minoru, Cameron Anne, Trnka Peter, I Alexander Stephen, Rangan Gopala, Tchan Michel C, Caruana Georgina, John George, Quinlan Cathy, McCarthy Hugh J, Hyland Valentine, E Hoy Wendy, Wolvetang Ernst, Taft Ryan, Simons Cas, Healy Helen, Little Melis |
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach. Human genomics 2015 9 12. Karageorgos Ioannis, Mizzi Clint, Giannopoulou Efstathia, Pavlidis Cristiana, Peters Brock A, Zagoriti Zoi, Stenson Peter D, Mitropoulos Konstantinos, Borg Joseph, Kalofonos Haralabos P, Drmanac Radoje, Stubbs Andrew, van der Spek Peter, Cooper David N, Katsila Theodora, Patrinos George |
The clinical significance of small copy number variants in neurodevelopmental disorders. Journal of medical genetics 2014 Oct 51 (10): 677-88. Asadollahi Reza, Oneda Beatrice, Joset Pascal, Azzarello-Burri Silvia, Bartholdi Deborah, Steindl Katharina, Vincent Marie, Cobilanschi Joana, Sticht Heinrich, Baldinger Rosa, Reissmann Regina, Sudholt Irene, Thiel Christian T, Ekici Arif B, Reis André, Bijlsma Emilia K, Andrieux Joris, Dieux Anne, FitzPatrick David, Ritter Susanne, Baumer Alessandra, Latal Beatrice, Plecko Barbara, Jenni Oskar G, Rauch Ani Get all records in database |
domingo, 4 de octubre de 2015
Public Health Genomics Knowledge Base (beta version)
Public Health Genomics Knowledge Base (beta version)
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