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Page 1
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
Orrico A, Galli L, Faivre L, Clayton-Smith J, Azzarello-Burri SM, Hertz JM, Jacquemont S, Taurisano R, Arroyo Carrera I, Tarantino E, Devriendt K, Melis D, Thelle T, Meinhardt U, Sorrentino V. Orrico A, et al. Among authors: thelle t. Am J Med Genet A. 2010 Feb;152A(2):313-8. doi: 10.1002/ajmg.a.33199. Am J Med Genet A. 2010. PMID: 20082460
Choroid plexus hyperplasia and chromosome 9p gains.
Boxill M, Becher N, Sunde L, Thelle T. Boxill M, et al. Among authors: thelle t. Am J Med Genet A. 2018 Jun;176(6):1416-1422. doi: 10.1002/ajmg.a.38697. Epub 2018 Apr 16. Am J Med Genet A. 2018. PMID: 29663640
Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.
Ostergaard E, Moller LB, Kalkanoglu-Sivri HS, Dursun A, Kibaek M, Thelle T, Christensen E, Duno M, Wibrand F. Ostergaard E, et al. Among authors: thelle t. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S235-9. doi: 10.1007/s10545-009-1179-8. Epub 2009 Jun 11. J Inherit Metab Dis. 2009. PMID: 19517265
[Lesch-Nyhan syndrome].
Illum N, Nielsen MM, Christensen E, Thelle T. Illum N, et al. Among authors: thelle t. Ugeskr Laeger. 1988 Sep 26;150(39):2320-2. Ugeskr Laeger. 1988. PMID: 3206596 Danish. No abstract available.
29 results