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MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
Frints SG, Lenzner S, Bauters M, Jensen LR, Van Esch H, des Portes V, Moog U, Macville MV, van Roozendaal K, Schrander-Stumpel CT, Tzschach A, Marynen P, Fryns JP, Hamel B, van Bokhoven H, Chelly J, Beldjord C, Turner G, Gecz J, Moraine C, Raynaud M, Ropers HH, Froyen G, Kuss AW. Frints SG, et al. Among authors: moog u. Eur J Hum Genet. 2008 Sep;16(9):1029-37. doi: 10.1038/ejhg.2008.66. Epub 2008 Apr 9. Eur J Hum Genet. 2008. PMID: 18398436
ICF syndrome: a new case and review of the literature.
Smeets DF, Moog U, Weemaes CM, Vaes-Peeters G, Merkx GF, Niehof JP, Hamers G. Smeets DF, et al. Among authors: moog u. Hum Genet. 1994 Sep;94(3):240-6. doi: 10.1007/BF00208277. Hum Genet. 1994. PMID: 8076938 Review.
Recombination hotspot in NF1 microdeletion patients.
López-Correa C, Dorschner M, Brems H, Lázaro C, Clementi M, Upadhyaya M, Dooijes D, Moog U, Kehrer-Sawatzki H, Rutkowski JL, Fryns JP, Marynen P, Stephens K, Legius E. López-Correa C, et al. Among authors: moog u. Hum Mol Genet. 2001 Jun 15;10(13):1387-92. doi: 10.1093/hmg/10.13.1387. Hum Mol Genet. 2001. PMID: 11440991
Lateral facial clefts: a case report.
de Die-Smulders CE, Moog U, Engelen JJ, Peters JJ, Damen A, Vos W, Fryns JP. de Die-Smulders CE, et al. Among authors: moog u. Genet Couns. 2001;12(2):163-5. Genet Couns. 2001. PMID: 11491312
Holoprosencephaly: the Maastricht experience.
Moog U, De Die-Smulders CE, Schrander-Stumpel CT, Engelen JJ, Hamers AJ, Frints S, Fryns JP. Moog U, et al. Genet Couns. 2001;12(3):287-98. Genet Couns. 2001. PMID: 11693794
Acampomelic campomelic syndrome.
Moog U, Jansen NJ, Scherer G, Schrander-Stumpel CT. Moog U, et al. Am J Med Genet. 2001 Dec 1;104(3):239-45. Am J Med Genet. 2001. PMID: 11754051
142 results