Výsledky vyhledávání - Reeve, Mary-Pat

Screening for Mutations in Isolated Central Hypothyroidism Reveals a Novel Mutation in Insulin Receptor Substrate 4 Autor Patyra, Konrad, Makkonen, Kristiina, Haanpää, Maria, Karppinen, Sinikka, Viikari, Liisa, Toppari, Jorma, Reeve, Mary Pat, Kero, Jukka

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Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs Autor Dabora, Sandra L., Jozwiak, Sergiusz, Franz, David Neal, Roberts, Penelope S., Nieto, Andres, Chung, Joon, Choy, Yew-Sing, Reeve, Mary Pat, Thiele, Elizabeth, Egelhoff, John C., Kasprzyk-Obara, Jolanta, Domanska-Pakiela, Dorota, Kwiatkowski, David J.

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An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease Autor Ruotsalainen, Sanni E., Partanen, Juulia J., Cichonska, Anna, Lin, Jake, Benner, Christian, Surakka, Ida, Reeve, Mary Pat, Palta, Priit, Salmi, Marko, Jalkanen, Sirpa, Ahola-Olli, Ari, Palotie, Aarno, Salomaa, Veikko, Daly, Mark J., Pirinen, Matti, Ripatti, Samuli, Koskela, Jukka

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Phenome-wide association studies across large population cohorts support drug target validation Autor Diogo, Dorothée, Tian, Chao, Franklin, Christopher S., Alanne-Kinnunen, Mervi, March, Michael, Spencer, Chris C. A., Vangjeli, Ciara, Weale, Michael E., Mattsson, Hannele, Kilpeläinen, Elina, Sleiman, Patrick M. A., Reilly, Dermot F., McElwee, Joshua, Maranville, Joseph C., Chatterjee, Arnaub K., Bhandari, Aman, Nguyen, Khanh-Dung H., Estrada, Karol, Reeve, Mary-Pat, Hutz, Janna, Bing, Nan, John, Sally, MacArthur, Daniel G., Salomaa, Veikko, Ripatti, Samuli, Hakonarson, Hakon, Daly, Mark J., Palotie, Aarno, Hinds, David A., Donnelly, Peter, Fox, Caroline S., Day-Williams, Aaron G., Plenge, Robert M., Runz, Heiko

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