Search Results - Beata Bąk

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  1. 1
    Is IGSF1 involved in human pituitary tumor formation?

    Is IGSF1 involved in human pituitary tumor formation? by Fábio R. Faucz, Anélia Horvath, Monalisa Ferreira Azevedo, Isaac Lévy, Beata Bąk, Ying Wang, Paraskevi Xekouki, Eva Szarek, Evgenia Gourgari, Allison Manning, Rodrigo Bertollo de Alexandre, Emmanouil Saloustros, Giampaolo Trivellin, Maya Lodish, Paul L. Hofman, Yvonne C. Anderson, I. M. Holdaway, Edward H. Oldfield, Prashant Chittiboina, Maria Nesterova, Nienke R. Biermasz, Jan M. Wit, Daniel J. Bernard, Constantine A. Stratakis

    Published 2014
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  2. 2
    The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients

    The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients by Sjoerd D. Joustra, Nadia Schoenmakers, Luca Persani, Irene Campi, Marco Bonomi, Giorgio Radetti, P. Beck‐Peccoz, Hongdong Zhu, Timothy M. E. Davis, Yu Sun, Eleonora P.M. Corssmit, Natasha M. Appelman‐Dijkstra, Charlotte A. Heinen, Alberto M. Pereira, Aimee J. Varewijck, J. A. M. J. L. Janssen, Erik Endert, Raoul C. M. Hennekam, Maria Lombardi, Marcel M.A.M. Mannens, Beata Bąk, Daniel J. Bernard, M.H. Breuning, Krishna Chatterjee, Mehul Dattani, Wilma Oostdijk, Nienke R. Biermasz, Jan M. Wit, A.S. Paul van Trotsenburg

    Published 2013
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  3. 3
    Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

    Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement by Yu Sun, Beata Bąk, Nadia Schoenmakers, A.S. Paul van Trotsenburg, Wilma Oostdijk, Peter J. Voshol, Emma L. Cambridge, Jacqueline K. White, Paul Le Tissier, S. Neda Mousavy Gharavy, Juan Pedro Martı́nez-Barberá, Wilhelmina H. Stokvis‐Brantsma, Thomas Vulsma, Marlies Kempers, Luca Persani, Irene Campi, Marco Bonomi, Paolo Beck‐Peccoz, Hongdong Zhu, Timothy M. E. Davis, Anita Hokken-Koelega, Darya Gorbenko del Blanco, Jayanti Rangasami, Claudia Ruivenkamp, Jeroen F. J. Laros, Marjolein Kriek, Sarina G. Kant, Cathy A.J. Bosch, Nienke R. Biermasz, Natasha M. Appelman‐Dijkstra, Eleonora P.M. Corssmit, Guido C. Hovens, Alberto M. Pereira, Johan T. den Dunnen, Michael G. Wade, Martijn H. Breuning, Raoul C. M. Hennekam, Krishna Chatterjee, Mehul Dattani, Jan M. Wit, Daniel J. Bernard

    Published 2012
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