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

Familial Cutaneous Leiomyomatosis, Urology, Tumoral Pathology +12

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

Juliane S. Müller, A. Herczegfalvi, Juan J. Vílchez et al. · Brain · 2007 · 157 citations

Down Syndrome, Developmental Anomaly, Rare Diseases +10

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 · 109 citations · Full text

Mental Retardation Syndrome, Developmental Biology, Mendelian Disorder +6

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 · 108 citations · Full text

Reproductive Genetic Counseling, Counseling, Family Medicine +11

A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency

Baptiste Fouquet, Patrycja Pawlikowska, Sandrine Caburet et al. · eLife · 2017 · 84 citations · Full text