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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.
Published in:
Clinical Genetics, 2022, v. 102, n. 5, p. 444, doi. 10.1111/cge.14203
By:
- Kraatari‐Tiri, Minna;
- Soikkonen, Leila;
- Myllykoski, Matti;
- Jamshidi, Yalda;
- Karimiani, Ehsan G.;
- Komulainen‐Ebrahim, Jonna;
- Kallankari, Hanna;
- Mignot, Cyril;
- Depienne, Christel;
- Keren, Boris;
- Nougues, Marie‐Christine;
- Alsahlawi, Zahra;
- Romito, Antonio;
- Martini, Javier;
- Toosi, Mehran B.;
- Carroll, Christopher J.;
- Tripolszki, Kornelia;
- Bauer, Peter;
- Uusimaa, Johanna;
- Bertoli‐Avella, Aida M.
Publication type:
Article
Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition.
Published in:
Familial Cancer, 2023, v. 22, n. 3, p. 291, doi. 10.1007/s10689-023-00327-2
By:
- Kumpula, Timo A.;
- Koivuluoma, Susanna;
- Soikkonen, Leila;
- Vorimo, Sandra;
- Moilanen, Jukka;
- Winqvist, Robert;
- Mantere, Tuomo;
- Kuismin, Outi;
- Pylkäs, Katri
Publication type:
Article