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Results: 9

1.
Davide Tonduti, Adeline Vanderver, Angela Berardinelli, Johanna L. Schmidt, Christin D. Collins, Francesca Novara, Antonia Di Genni, Alda Mita, Fabio Triulzi, Janice E. Brunstrom-Hernandez, Orsetta Zuffardi, Umberto Balottin, Simona Orcesi
J Child Neurol.
Published in final edited form as: J Child Neurol. 2013 June; 28(6): 795–800. Published online 2012 July 17. doi: 10.1177/0883073812450944
PMCID:
PMC4155008
2.
Charles F. Verge, Daniel Konrad, Michal Cohen, Caterina Di Cosmo, Alexandra M. Dumitrescu, Teresa Marcinkowski, Shihab Hameed, Jill Hamilton, Roy E. Weiss, Samuel Refetoff
J Clin Endocrinol Metab. 2012 December; 97(12): 4515–4523. Published online 2012 September 19. doi: 10.1210/jc.2012-2556
PMCID:
PMC3513545
3.
Caterina Di Cosmo, Xiao-Hui Liao, Alexandra M. Dumitrescu, Roy E. Weiss, Samuel Refetoff
Endocrinology. 2009 September; 150(9): 4450–4458. Published online 2009 June 4. doi: 10.1210/en.2009-0209
PMCID:
PMC2736078
4.
Jurgen Jansen, Edith C. H. Friesema, Monique H. A. Kester, Charles E. Schwartz, Theo J. Visser
Endocrinology. 2008 May; 149(5): 2184–2190. Published online 2008 January 10. doi: 10.1210/en.2007-1475
PMCID:
PMC2734492
5.
Ainhoa Ceballos, Monica M. Belinchon, Eduardo Sanchez-Mendoza, Carmen Grijota-Martinez, Alexandra M. Dumitrescu, Samuel Refetoff, Beatriz Morte, Juan Bernal
Endocrinology. 2009 May; 150(5): 2491–2496. Published online 2009 January 15. doi: 10.1210/en.2008-1616
PMCID:
PMC2671898
6.
C M C Maranduba, E C H Friesema, F Kok, M H A Kester, J Jansen, A L Sertié, M R Passos‐Bueno, T J Visser
J Med Genet. 2006 May; 43(5): 457–460. Published online 2005 July 1. doi: 10.1136/jmg.2005.035840
PMCID:
PMC2649011
7.
Charles E. Schwartz, Roger E. Stevenson
Best Pract Res Clin Endocrinol Metab.
Published in final edited form as: Best Pract Res Clin Endocrinol Metab. 2007 June; 21(2): 307–321. doi: 10.1016/j.beem.2007.03.009
PMCID:
PMC2094733
8.
Charles E.  Schwartz, Melanie M.  May, Nancy J.  Carpenter, R. Curtis  Rogers, Judith  Martin, Martin G.  Bialer, Jewell  Ward, Javier  Sanabria, Silvana  Marsa, James A.  Lewis, Roberto  Echeverri, Herbert A.  Lubs, Kytja  Voeller, Richard J.  Simensen, Roger E.  Stevenson
Am J Hum Genet. 2005 July; 77(1): 41–53. Published online 2005 May 11. doi: 10.1086/431313
PMCID:
PMC1226193
9.
Alexandra M. Dumitrescu, Xiao-Hui Liao, Thomas B. Best, Knut Brockmann, Samuel Refetoff
Am J Hum Genet. 2004 January; 74(1): 168–175. Published online 2003 December 5. doi: 10.1086/380999
PMCID:
PMC1181904

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