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FHF1 (FGF12) epileptic encephalopathy.
Neurol Genet. 2016 Oct 28;2(6):e115. doi: 10.1212/NXG.0000000000000115. eCollection 2016 Dec.
Neurol Genet. 2016.
PMID: 27830185
Free PMC article.
Airway malacia in children with achondroplasia.
Dessoffy KE, Modaff P, Pauli RM.
Dessoffy KE, et al.
Am J Med Genet A. 2014 Feb;164A(2):407-14. doi: 10.1002/ajmg.a.36303. Epub 2013 Dec 5.
Am J Med Genet A. 2014.
PMID: 24311312
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Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
Stockler-Ipsiroglu S, Apatean D, Battini R, DeBrosse S, Dessoffy K, Edvardson S, Eichler F, Johnston K, Koeller DM, Nouioua S, Tazir M, Verma A, Dowling MD, Wierenga KJ, Wierenga AM, Zhang V, Wong LJ.
Stockler-Ipsiroglu S, et al. Among authors: dessoffy k.
Mol Genet Metab. 2015 Dec;116(4):252-9. doi: 10.1016/j.ymgme.2015.10.003. Epub 2015 Oct 17.
Mol Genet Metab. 2015.
PMID: 26490222
Free article.
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