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Page 1
Treatment outcome of creatine transporter deficiency: international retrospective cohort study.
Bruun TUJ, Sidky S, Bandeira AO, Debray FG, Ficicioglu C, Goldstein J, Joost K, Koeberl DD, Luísa D, Nassogne MC, O'Sullivan S, Õunap K, Schulze A, van Maldergem L, Salomons GS, Mercimek-Andrews S. Bruun TUJ, et al. Among authors: ounap k. Metab Brain Dis. 2018 Jun;33(3):875-884. doi: 10.1007/s11011-018-0197-3. Epub 2018 Feb 12. Metab Brain Dis. 2018. PMID: 29435807
Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia.
Teek R, Kruustük K, Zordania R, Joost K, Reimand T, Möls T, Oitmaa E, Kahre T, Tõnisson N, Ounap K. Teek R, et al. Among authors: ounap k. Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):1007-12. doi: 10.1016/j.ijporl.2010.05.026. Epub 2010 Jun 18. Int J Pediatr Otorhinolaryngol. 2010. PMID: 20708129
A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children.
Joost K, Rodenburg RJ, Piirsoo A, van den Heuvel L, Zordania R, Põder H, Talvik I, Kilk K, Soomets U, Ounap K. Joost K, et al. Among authors: ounap k. Mol Syndromol. 2012 Sep;3(3):113-119. doi: 10.1159/000341375. Epub 2012 Jul 25. Mol Syndromol. 2012. PMID: 23112753 Free PMC article.
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS. van de Kamp JM, et al. Among authors: ounap k. J Med Genet. 2013 Jul;50(7):463-72. doi: 10.1136/jmedgenet-2013-101658. Epub 2013 May 3. J Med Genet. 2013. PMID: 23644449
199 results