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2007 1
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2010 2
2011 1
2012 1
2013 2
2014 4
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2016 5
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2020 5
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48 results

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Page 1
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.
Hotz A, Kopp J, Bourrat E, Oji V, Süßmuth K, Komlosi K, Bouadjar B, Tantcheva-Poór I, Hellström Pigg M, Betz RC, Giehl K, Schedel F, Weibel L, Schulz S, Stölzl DV, Tadini G, Demiral E, Berggard K, Zimmer AD, Alter S, Fischer J. Hotz A, et al. Among authors: zimmer ad. Genes (Basel). 2023 Mar 15;14(3):717. doi: 10.3390/genes14030717. Genes (Basel). 2023. PMID: 36980989 Free PMC article.
ppdb: plant promoter database version 3.0.
Hieno A, Naznin HA, Hyakumachi M, Sakurai T, Tokizawa M, Koyama H, Sato N, Nishiyama T, Hasebe M, Zimmer AD, Lang D, Reski R, Rensing SA, Obokata J, Yamamoto YY. Hieno A, et al. Among authors: zimmer ad. Nucleic Acids Res. 2014 Jan;42(Database issue):D1188-92. doi: 10.1093/nar/gkt1027. Epub 2013 Nov 4. Nucleic Acids Res. 2014. PMID: 24194597 Free PMC article.
Neonatal presentation of COG6-CDG with prominent skin phenotype.
Komlosi K, Gläser S, Kopp J, Hotz A, Alter S, Zimmer AD, Beger C, Heinzel S, Schmidt C, Fischer J. Komlosi K, et al. Among authors: zimmer ad. JIMD Rep. 2020 Aug 7;55(1):51-58. doi: 10.1002/jmd2.12154. eCollection 2020 Sep. JIMD Rep. 2020. PMID: 32905044 Free PMC article.
Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis.
Komlosi K, Claris O, Collardeau-Frachon S, Kopp J, Hausser I, Mazereeuw-Hautier J, Jonca N, Zimmer AD, Sanlaville D, Fischer J. Komlosi K, et al. Among authors: zimmer ad. Front Genet. 2021 Dec 8;12:719624. doi: 10.3389/fgene.2021.719624. eCollection 2021. Front Genet. 2021. PMID: 34956305 Free PMC article.
48 results