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Your search keyword '"Soikkonen, Leila"' showing total 4 results
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4 results on '"Soikkonen, Leila"'

1. The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2

Author

Hinić, Snežana, Cybulski, Cezary, Van der Post, Rachel S., Vos, Janet R., Schuurs-Hoeijmakers, Janneke, Brugnoletti, Fulvia, Koene, Saskia, Vreede, Lilian, van Zelst-Stams, Wendy A.G., Kets, C. Marleen, Haadsma, Maaike, Spruijt, Liesbeth, Wevers, Marijke R., Evans, D. Gareth, Wimmer, Katharina, Schnaiter, Simon, Volk, Alexander E., Möllring, Anna, de Putter, Robin, Soikkonen, Leila, Kahre, Tiina, Tooming, Mikk, de Jong, Mirjam M., Vaz, Fátima, Mensenkamp, Arjen R., Genuardi, Maurizio, Lubinski, Jan, Ligtenberg, Marjolijn, Hoogerbrugge, Nicoline, and de Voer, Richarda M.

Published
2024
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3. Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae

Author

Tuovinen, Elina A., primary, Kuismin, Outi, additional, Soikkonen, Leila, additional, Martelius, Timi, additional, Kaustio, Meri, additional, Hämäläinen, Sari, additional, Viskari, Hanna, additional, Syrjänen, Jaana, additional, Wartiovaara-Kautto, Ulla, additional, Eklund, Kari K., additional, Saarela, Janna, additional, Varjosalo, Markku, additional, Kere, Juha, additional, Hautala, Timo, additional, and Seppänen, Mikko R.J., additional

Published
2023
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4. HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H‐TM protein

Author

Kraatari‐Tiri, Minna, primary, Soikkonen, Leila, additional, Myllykoski, Matti, additional, Jamshidi, Yalda, additional, Karimiani, Ehsan G., additional, Komulainen‐Ebrahim, Jonna, additional, Kallankari, Hanna, additional, Mignot, Cyril, additional, Depienne, Christel, additional, Keren, Boris, additional, Nougues, Marie‐Christine, additional, Alsahlawi, Zahra, additional, Romito, Antonio, additional, Martini, Javier, additional, Toosi, Mehran B., additional, Carroll, Christopher J., additional, Tripolszki, Kornelia, additional, Bauer, Peter, additional, Uusimaa, Johanna, additional, Bertoli‐Avella, Aida M., additional, Koivunen, Peppi, additional, and Rahikkala, Elisa, additional

Published
2022
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