检索结果 - Reeve, Mary-Pat

Screening for Mutations in Isolated Central Hypothyroidism Reveals a Novel Mutation in Insulin Receptor Substrate 4 由 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 由 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 由 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 由 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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