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Items: 12

1.
Hélène Singeisen, Mariko Melanie Renzulli, Vojtech Pavlicek, Pascal Probst, Fabian Hauswirth, Markus K Muller, Magdalene Adamczyk, Achim Weber, Reto Martin Kaderli, Pietro Renzulli
Endocr Connect. 2023 Feb 1; 12(2): e220411. Published online 2023 Jan 24. doi: 10.1530/EC-22-0411
PMCID:
PMC9874964
2.
Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper
Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3
PMCID:
PMC7497289
3.
Fanny Chasseloup, Nathan Pankratz, John Lane, Fabio R Faucz, Margaret F Keil, Prashant Chittiboina, Denise M Kay, Tara Hussein Tayeb, Constantine A Stratakis, James L Mills, Laura C Hernández-Ramírez
J Clin Endocrinol Metab. 2020 Jun; 105(6): 1983–2005. Published online 2020 Mar 31. doi: 10.1210/clinem/dgaa160
PMCID:
PMC7190031
4.
Anja Frederiksen, Maria Rossing, Pernille Hermann, Charlotte Ejersted, Rajesh V Thakker, Morten Frost
J Clin Endocrinol Metab. 2019 Sep; 104(9): 3637–3646. Published online 2019 Apr 16. doi: 10.1210/jc.2019-00082
PMCID:
PMC6637788
5.
Francesca Marini, Francesca Giusti, Maria Luisa Brandi
Orphanet J Rare Dis. 2018; 13: 205. Published online 2018 Nov 14. doi: 10.1186/s13023-018-0938-8
PMCID:
PMC6237029
6.
Rami Alrezk, Fady Hannah-Shmouni, Constantine A. Stratakis
Endocr Relat Cancer.
Published in final edited form as: Endocr Relat Cancer. 2017 Oct; 24(10): T195–T208. Published online 2017 Aug 19. doi: 10.1530/ERC-17-0243
PMCID:
PMC5623937
7.
Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles
Nat Genet.
Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469
PMCID:
PMC4731925
8.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm
Genet Med.
Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30
PMCID:
PMC4544753
9.
William Grey, Louise Izatt, Wafa Sahraoui, Yiu-Ming Ng, Caroline Ogilvie, Anthony Hulse, Eric Tse, Roman Holic, Veronica Yu
Hum Mutat. 2013 Jun; 34(6): 864–868. Published online 2013 Mar 15. doi: 10.1002/humu.22314
PMCID:
PMC3708111
10.
Sara Molatore, Ilaria Marinoni, Misu Lee, Elke Pulz, Maria Rosaria Ambrosio, Ettore C degli Uberti, Maria Chiara Zatelli, Natalia S Pellegata
Hum Mutat. 2010 Nov; 31(11): E1825–E1835. doi: 10.1002/humu.21354
PMCID:
PMC3051264
11.
Sunita K. Agarwal, Carmen M. Mateo, Stephen J. Marx
J Clin Endocrinol Metab. 2009 May; 94(5): 1826–1834. Published online 2009 Jan 13. doi: 10.1210/jc.2008-2083
PMCID:
PMC2684477
12.
J Warner, M Epstein, A Sweet, D Singh, J Burgess, S Stranks, P Hill, D Perry-Keene, D Learoyd, B Robinson, P Birdsey, E Mackenzie, B Teh, J Prins, J Cardinal
J Med Genet. 2004 Mar; 41(3): 155–160. doi: 10.1136/jmg.2003.016725
PMCID:
PMC1735699

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