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Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.
van Rijn JM, Ardy RC, Kuloğlu Z, Härter B, van Haaften-Visser DY, van der Doef HPJ, van Hoesel M, Kansu A, van Vugt AHM, Thian M, Kokke FTM, Krolo A, Başaran MK, Kaya NG, Aksu AÜ, Dalgıç B, Ozcay F, Baris Z, Kain R, Stigter ECA, Lichtenbelt KD, Massink MPG, Duran KJ, Verheij JBGM, Lugtenberg D, Nikkels PGJ, Brouwer HGF, Verkade HJ, Scheenstra R, Spee B, Nieuwenhuis EES, Coffer PJ, Janecke AR, van Haaften G, Houwen RHJ, Müller T, Middendorp S, Boztug K. van Rijn JM, et al. Among authors: muller t. Gastroenterology. 2018 Jul;155(1):130-143.e15. doi: 10.1053/j.gastro.2018.03.040. Epub 2018 Mar 29. Gastroenterology. 2018. PMID: 29604290 Free PMC article.
Joubert-like syndrome unlinked to known candidate loci.
Janecke AR, Müller T, Gassner I, Kreczy A, Schmid E, Kronenberg F, Utermann B, Utermann G. Janecke AR, et al. Among authors: muller t. J Pediatr. 2004 Feb;144(2):264-9. doi: 10.1016/j.jpeds.2003.11.010. J Pediatr. 2004. PMID: 14760273
A new, X-linked endothelial corneal dystrophy.
Schmid E, Lisch W, Philipp W, Lechner S, Göttinger W, Schlötzer-Schrehardt U, Müller T, Utermann G, Janecke AR. Schmid E, et al. Among authors: muller t. Am J Ophthalmol. 2006 Mar;141(3):478-487. doi: 10.1016/j.ajo.2005.10.020. Am J Ophthalmol. 2006. PMID: 16490493
4,335 results