Výsledky vyhledávání - Beata Bąk
- Zobrazuji výsledky 1 - 3 z 3
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1
Is IGSF1 involved in human pituitary tumor formation? Autor 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
Vydáno 2014Artigo -
2
The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients Autor 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
Vydáno 2013Artigo -
3
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement Autor 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
Vydáno 2012Artigo
Vyhledávací nástroje:
Související témata
Endocrinology
Internal medicine
Medicine
Biology
Gene
Genetics
Hormone
Acromegaly
Adenoma
Anterior pituitary
Body mass index
Central hypothyroidism
Environmental health
Exome sequencing
Germline
Gigantism
Growth hormone
Hyperplasia
Immunohistochemistry
Metabolic syndrome
Mutation
Obesity
Pathology
Pediatrics
Physiology
Pituitary adenoma
Pituitary gland
Population
Prolactin
Pubic hair