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Research | 9 September 2016 | Open
Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene
Scientific Reports 6 , 1–7

Rights & permissionsfor article Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene . Opens in a new window.
31 December 2015
Childhood growth in boys with congenital hypogonadotropic hypogonadism
- Tero Varimo
- , Matti Hero
- , Eeva-Maria Laitinen
- , Päivi J. Miettinen
- , Johanna Tommiska
- , Johanna Känsäkoski
- , Anders Juul
- & Taneli Raivio
Pediatric Research 79 , 705–709

Rights & permissionsfor article Childhood growth in boys with congenital hypogonadotropic hypogonadism . Opens in a new window.
2 September 2015
A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty
Pediatric Research 78 , 709–711

Rights & permissionsfor article A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty . Opens in a new window.
Research | 25 April 2014
De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss
Pediatric Research 76 , 115–116

Rights & permissionsfor article De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss . Opens in a new window.
12 February 2014
Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism
Pediatric Research 75 , 641–644

Rights & permissionsfor article Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism . Opens in a new window.
Research | 3 November 2017 | Open
Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis
- Johanna Tommiska
- , Johanna Känsäkoski
- , Lasse Skibsbye
- , Kirsi Vaaralahti
- , Xiaonan Liu
- , Emily J. Lodge
- , Chuyi Tang
- , Lei Yuan
- , Rainer Fagerholm
- , Jørgen K. Kanters
- , Päivi Lahermo
- , Mari Kaunisto
- , Riikka Keski-Filppula
- , Sanna Vuoristo
- , Kristiina Pulli
- , Tapani Ebeling
- , Leena Valanne
- , Eeva-Marja Sankila
- , Sirpa Kivirikko
- , Mitja Lääperi
- , Filippo Casoni
- , Paolo Giacobini
- , Franziska Phan-Hug
- , Tal Buki
- , Manuel Tena-Sempere
- , Nelly Pitteloud
- , Riitta Veijola
- , Marita Lipsanen-Nyman
- , Kari Kaunisto
- , Patrice Mollard
- , Cynthia L. Andoniadou
- , Joel A. Hirsch
- , Markku Varjosalo
- , Thomas Jespersen
- & Taneli Raivio
Nature Communications 8 , 1–11

Rights & permissionsfor article Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis . Opens in a new window.

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

Childhood growth in boys with congenital hypogonadotropic hypogonadism

A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty

De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss

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

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

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