Marja Hietala
mahehi@utu.fi +358 50 520 1822 Kiinamyllynkatu 10 Turku |
Publications
- Lähetä ajoissa, konsultoi herkästi - sikiö- ja alkiodiagnostiikan menetelmät tehokkaaseen käyttöön (2024)
- Duodecim
(Refereed review article in scientific journal (A2)) - Lastentaudit ja periytyminen (2023) Lastentaudit Tanner Laura, Hietala Marja
(Article in a professional research book (D2)) - Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant (2023)
- European Journal of Medical Genetics
(Refereed journal article or data article (A1)) - Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease (2023)
- Pediatric and Developmental Pathology
(Refereed journal article or data article (A1)) - Laajojen geenitutkimusten sivu- ja sattumalöydökset (2022)
- Duodecim
(Refereed review article in scientific journal (A2)) - Novel germline variant in the histone demethylase and transcription regulator KDM4C induces a multi-cancer phenotype (2022)
- Journal of Medical Genetics
(Refereed journal article or data article (A1)) - Tietoa Huntington-perheille ja hoitohenkilökunnalle (2022) Martikainen Kirsi, Hietala Marja, Koivunen Salla, Nuppula Emmi
(Popularised or unrefereed scientific book (E2)) - Wilsonin tauti - uutta ja vanhaa (2021)
- Duodecim
(Refereed review article in scientific journal (A2)) - Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome (2020)
- European Journal of Human Genetics
(Refereed journal article or data article (A1)) - Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes (2020)
- European Journal of Human Genetics
(Refereed journal article or data article (A1)) - Reply to Kratz et al. (2020)
- European Journal of Human Genetics
(Article or data-article in scientific journal (B1)) - Wilson's Disease in Finland: A Nationwide Population‐Based Study (2020)
- Movement Disorders
(Refereed journal article or data article (A1)) - Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes (2019)
- Familial Cancer
(Article or data-article in scientific journal (B1)) - HTT haplogroups in Finnish patients with Huntington disease (2019)
- Neurology-Genetics
(Refereed journal article or data article (A1)) - Huntingtonin tauti (2019)
- Duodecim
(Refereed review article in scientific journal (A2)) - Hypomorphic mutations of TRIP11 cause odontochondrodysplasia (2019)
- JCI Insight
(Refereed journal article or data article (A1)) - Särö-X-esimutaatio-oireyhtymä (FXTAS) - magneettikuvauksesta apua diagnosointiin (2019)
- Duodecim
(Article in trade journal or blog post (D1)) - A 69-year-old woman with Coffin-Siris syndrome (2018)
- American Journal of Medical Genetics Part A
(Refereed journal article or data article (A1)) - Paraneeko terveys geenitesteillä? (2018)
- Työterveyslääkäri
(Article in trade journal or blog post (D1)) - A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency (2017)
- eLife
(Refereed journal article or data article (A1))