Marja Hietala
mahehi@utu.fi +358 50 520 1822 Kiinamyllynkatu 10 Turku |
Publications 
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- Geneettiset seulonnat (2025) Lääketieteellinen genetiikka Lapatto, Risto; Hietala, Marja
(D2 Article in a professional compilation book) - Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes (2025)
- American Journal of Medical Genetics Part A
(A1 Refereed original research article in a scientific journal) - Lähetä ajoissa, konsultoi herkästi - sikiö- ja alkiodiagnostiikan menetelmät tehokkaaseen käyttöön (2024)
- Duodecim
(A2 Refereed review article in a scientific journal ) - Lastentaudit ja periytyminen (2023) Lastentaudit Tanner Laura, Hietala Marja
(D2 Article in a professional compilation book) - Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant (2023)
- European Journal of Medical Genetics
(A1 Refereed original research article in a scientific journal) - Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease (2023)
- Pediatric and Developmental Pathology
(A1 Refereed original research article in a scientific journal) - Laajojen geenitutkimusten sivu- ja sattumalöydökset (2022)
- Duodecim
(A2 Refereed review article in a scientific journal ) - Novel germline variant in the histone demethylase and transcription regulator KDM4C induces a multi-cancer phenotype (2022)
- Journal of Medical Genetics
(A1 Refereed original research article in a scientific journal) - Tietoa Huntington-perheille ja hoitohenkilökunnalle (2022) Martikainen Kirsi, Hietala Marja, Koivunen Salla, Nuppula Emmi
(E2 Popularised book ) - Wilsonin tauti - uutta ja vanhaa (2021)
- Duodecim
(A2 Refereed review article in a scientific journal )
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