Marja Hietala
Turku University Hospital(FI)
Publications by Year
Research Areas
Renal cell carcinoma treatment, Renal and related cancers, Mitochondrial Function and Pathology, Genetic Neurodegenerative Diseases, Parkinson's Disease Mechanisms and Treatments
Most-Cited Works
- → Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer(2002)1,602 cited
- → Familial Cutaneous Leiomyomatosis Is a Two-Hit Condition Associated with Renal Cell Cancer of Characteristic Histopathology(2001)209 cited
- → Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes(2007)157 cited
- → Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome(2020)128 cited
- → PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome(2013)110 cited
- → What is ideal genetic counselling? A survey of current international guidelines(2008)110 cited
- → A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency(2017)86 cited
- → Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion(2000)79 cited
- → Hypomorphic mutations of TRIP11 cause odontochondrodysplasia(2019)78 cited
- → The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population(2005)70 cited