Marja Hietala

Familial Cutaneous Leiomyomatosis Is a Two-Hit Condition Associated with Renal Cell Cancer of Characteristic Histopathology

Maija Kiuru, Virpi Launonen, Marja Hietala et al. · American Journal Of Pathology · 2001 · 209 citations · Full text

Medicine, Oncology, Pathology +17

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

Juliane S. Müller, A. Herczegfalvi, Juan J. Vílchez et al. · Brain · 2007 · 160 citations

Life Sciences, Genetics, Molecular Genetics +15

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

Marc Tischkowitz, Chrystelle Colas, Sjaak Pouwels et al. · European Journal of Human Genetics · 2020 · 135 citations · Full text

Medicine, Gynecology, Oncology +15

PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome

Peter Krawitz, Yoshiko Murakami, Angelika Rieß et al. · The American Journal of Human Genetics · 2013 · 112 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

What is ideal genetic counselling? A survey of current international guidelines

Elina Rantanen, Marja Hietala, Ulf Kristoffersson et al. · European Journal of Human Genetics · 2008 · 111 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14