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3 research outputs found
A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome
Author
Caburet
Carlsson
+20Â more
Clement
Cocquet
Costa
Crisponi
De Baere
De Baere
Forman
H Stobbe
Haddad
K Raile
Nelson
R B Tröbs
R Pfäffle
Ram  rez-Castro
Rebar
Skinner
Sullivan
Udar
W Kiess
Zlotogora
Publication venue
'Bioscientifica'
Publication date
Field of study
No full text
Crossref
Clinical and Functional Characteristics of the Human Arg59Ter Insulin-Like Growth Factor I Receptor (IGF1R) Mutation: Implications for a Gene Dosage Effect of the Human IGF1R
Author
A. Keller
A. Schneider
+39Â more
Abuzzahab
Allard
Arends
Arends
Bailyes
de Zegher
de Zegher
Ducos
E. Keller
Edouard
Entingh-Pearsall
Federici
Federici
Hammer
Hermanussen
Holzenberger
Holzenberger
J. Klammt
J. Kratzsch
K. Raile
Kawashima
Kratzsch
Liu
Okubo
Pandini
R. Pfäffle
R. Smith
Roback
S. Laue
Sakai
Seely
Soos
Soos
Spampinato
Tonnies
Tonnies
Ullrich
van der Kamp
W. Kiess
Publication venue
'The Endocrine Society'
Publication date
Field of study
No full text
Crossref
Germline NF1
Author
Alberto Cascon
Ambrogio Fassina
+81Â more
Andrzej Januszewicz
Ann-Cathrin Koschker
Barbara Jarzab
Barker
Barlow
Bausch
Bausch
Benn
Bernhard Kremens
Birke Bausch
Boehm
Borozdin
Cawthon
Charis Eng
Christian Pawlu
Claudio Letizia
Cnossen
Danglot
Dasgupta
De Luca
Detlef Boehm
Eng
F. Fausto Palazzo
Fahsold
Felix Lohoefner
Feng
Francesca Schiavi
Georg Brabant
Giorgio Arnaldi
Giuseppe Opocher
Graham MacGregor
Gutmann
Gutmann
Hartmut P. H. Neumann
Hope
Jacks
Jenne
Jürgen Kohlhase
Kehrer-Sawatzki
Kirschner
Kluwe
Koch
Laurent Brunaud
Lee
Legius
Luijten
Luijten
Mangoura
Mariola Peczkowska
Markus Mohaupt
Marta Barontini
Martin
Martin A. Walter
Martin K. Walz
Massimo Mannelli
Mercedes Robledo
Messiaen
Michael M. Hoffmann
Neumann
Neumann
Nicole Reisch
Oliver Gimm
Purandare
Regnier
Riccardi
Roland Pfäffle
Rolf D. Klingenberg-Noftz
Sarah R. McWhinney
Scheurlen
Seizinger
Stefano Calvieri
Suzuki
Tomas Harenberg
Upadhyaya
Upadhyaya
Victor F. Mautner
Walther
Wiktor Borozdin
Wimmer
Xu
Zhu
Publication venue
'The Endocrine Society'
Publication date
Field of study
No full text
Crossref