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Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Anikster Y, Haack TB, Vilboux T, Pode-Shakked B, Thöny B, Shen N, Guarani V, Meissner T, Mayatepek E, Trefz FK, Marek-Yagel D, Martinez A, Huttlin EL, Paulo JA, Berutti R, Benoist JF, Imbard A, Dorboz I, Heimer G, Landau Y, Ziv-Strasser L, Malicdan MCV, Gemperle-Britschgi C, Cremer K, Engels H, Meili D, Keller I, Bruggmann R, Strom TM, Meitinger T, Mullikin JC, Schwartz G, Ben-Zeev B, Gahl WA, Harper JW, Blau N, Hoffmann GF, Prokisch H, Opladen T, Schiff M. Anikster Y, et al. Among authors: meili d. Am J Hum Genet. 2017 Feb 2;100(2):257-266. doi: 10.1016/j.ajhg.2017.01.002. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132689 Free PMC article.
Soluble adenylyl cyclase in health and disease.
Schmid A, Meili D, Salathe M. Schmid A, et al. Among authors: meili d. Biochim Biophys Acta. 2014 Dec;1842(12 Pt B):2584-92. doi: 10.1016/j.bbadis.2014.07.010. Epub 2014 Jul 23. Biochim Biophys Acta. 2014. PMID: 25064591 Free PMC article. Review.
Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene.
Adamsen D, Ramaekers V, Ho HT, Britschgi C, Rüfenacht V, Meili D, Bobrowski E, Philippe P, Nava C, Van Maldergem L, Bruggmann R, Walitza S, Wang J, Grünblatt E, Thöny B. Adamsen D, et al. Among authors: meili d. Mol Autism. 2014 Aug 13;5:43. doi: 10.1186/2040-2392-5-43. eCollection 2014. Mol Autism. 2014. PMID: 25802735 Free PMC article.
Barrier capacity of human placenta for nanosized materials.
Wick P, Malek A, Manser P, Meili D, Maeder-Althaus X, Diener L, Diener PA, Zisch A, Krug HF, von Mandach U. Wick P, et al. Among authors: meili d. Environ Health Perspect. 2010 Mar;118(3):432-6. doi: 10.1289/ehp.0901200. Epub 2009 Nov 12. Environ Health Perspect. 2010. PMID: 20064770 Free PMC article.
21 results