Johanna Känsäkoski

Congenital hypogonadotropic hypogonadism, functional hypogonadotropism or constitutional delay of growth and puberty? An analysis of a large patient series from a single tertiary center

Tero Varimo, Päivi J. Miettinen, Johanna Känsäkoski et al. · Human Reproduction · 2016 · 85 citations · Full text

Medicine, Endocrinology, Pediatrics +17

Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism

Johanna Känsäkoski, Rainer Fagerholm, Eeva‐Maria Laitinen et al. · Pediatric Research · 2014 · 73 citations

Medicine, Endocrinology, Genetics +14

WDR11‐mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome

Yeon-Joo Kim, Daniel P. S. Osborn, Ji‐Young Lee et al. · EMBO Reports · 2017 · 56 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +14

Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene

Johanna Känsäkoski, Jarmo Jääskeläinen, Tiina Jääskeläinen et al. · Scientific Reports · 2016 · 55 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

Johanna Tommiska, Johanna Känsäkoski, Lasse Skibsbye et al. · Nature Communications · 2017 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17