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Kmoch, S., Majewski, J., Ramamurthy, V., Cao, S., Fahiminiya, S., Ren, H., MacDonald, I. M., Lopez, I., Sun, V., Keser, V., Khan, A., Stránecký, V., Hartmannová, H., Přistoupilová, A., Hodaňová, K., Piherová, L., Kuchař, L., Baxová, A., Chen, R., Barsottini, O. G. P., Pyle, A., Griffin, H., Splitt, M., Sallum, J., Tolmie, J. L., Sampson, J. R., Chinnery, P., Banin, E., Sharon, D., Dutta, S., Grebler, R., Helfrich-Foerster, C., Pedroso, J. L., Kretzschmar, D., Cayouette, M., Koenekoop, R. K.
Published in Nature communications (09.01.2015)
Published in Nature communications (09.01.2015)
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Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar
Fahiminiya, S., Almuriekhi, M., Nawaz, Z., Staffa, A., Lepage, P., Ali, R., Hashim, L., Schwartzentruber, J., Abu Khadija, K., Zaineddin, S., Gamal, H., Majewski, J., Ben-Omran, T.
Published in Clinical genetics (01.08.2014)
Published in Clinical genetics (01.08.2014)
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Paakkola, T., Vuopala, K., Kokkonen, H., Ignatius, J., Valkama, M., Moilanen, J.S., Fahiminiya, S., Majewski, J., Hinttala, R., Uusimaa, J.
Published in Clinical genetics (01.01.2018)
Published in Clinical genetics (01.01.2018)
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An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase
Hinttala, Reetta, Sasarman, Florin, Nishimura, Tamiko, Antonicka, Hana, Brunel-Guitton, Catherine, Schwartzentruber, Jeremy, Fahiminiya, Somayyeh, Majewski, Jacek, Faubert, Denis, Ostergaard, Elsebet, Smeitink, Jan A, Shoubridge, Eric A
Published in Human molecular genetics (15.07.2015)
Published in Human molecular genetics (15.07.2015)
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OC 57.4 Deciphering Novel Complex Structural Variations in Severe Hemophilia a Patients by Optical Genome Mapping
Fahiminiya, S., Oikonomopoulos, S., Rivard, G., Gandhi, M., Scott, P., Montpetit, A., Chen, S., Park, K., Vezina, C., St-Louis, J., Ragoussis, J., Carvalho, C., Mitchell, G., Soucy, J., Gauthier, J.
Published in Research and practice in thrombosis and haemostasis (01.10.2023)
Published in Research and practice in thrombosis and haemostasis (01.10.2023)
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