Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

179 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders.
Niculescu L, Wagner M, Westphal DS, Fischer M, Mihatsch W, Prothmann A, Ruzicka T, Wollenberg A, Wolff H, Schmidt H, Giehl KA. Niculescu L, et al. Acta Derm Venereol. 2019 Jan 1;99(1):111-112. doi: 10.2340/00015555-2997. Acta Derm Venereol. 2019. PMID: 29956718 Free article. No abstract available.
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
Hotz A, Kopp J, Bourrat E, Oji V, Komlosi K, Giehl K, Bouadjar B, Bygum A, Tantcheva-Poor I, Hellström Pigg M, Has C, Yang Z, Irvine AD, Betz RC, Zambruno G, Tadini G, Süßmuth K, Gruber R, Schmuth M, Mazereeuw-Hautier J, Jonca N, Guez S, Brena M, Hernandez-Martin A, van den Akker P, Bolling MC, Hannula-Jouppi K, Zimmer AD, Alter S, Vahlquist A, Fischer J. Hotz A, et al. Among authors: giehl k. Genes (Basel). 2021 Jan 9;12(1):80. doi: 10.3390/genes12010080. Genes (Basel). 2021. PMID: 33435499 Free PMC article.
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: giehl k. Genes (Basel). 2023 Mar 15;14(3):717. doi: 10.3390/genes14030717. Genes (Basel). 2023. PMID: 36980989 Free PMC article.
Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.
Giehl KA, Herzinger T, Wolff H, Sárdy M, von Braunmühl T, Dekeuleneer V, Sznajer Y, Tennstedt D, Boes P, Rapprich S, Wagner N, Betz RC, Braun-Falco M, Strom T, Ruzicka T, Eckstein GN. Giehl KA, et al. Acta Derm Venereol. 2016 May;96(4):468-72. doi: 10.2340/00015555-2304. Acta Derm Venereol. 2016. PMID: 26608363 Free article.
S1 guidelines for the diagnosis and treatment of ichthyoses - update.
Oji V, Preil ML, Kleinow B, Wehr G, Fischer J, Hennies HC, Hausser I, Breitkreutz D, Aufenvenne K, Stieler K, Tantcheva-Poór I, Weidinger S, Emmert S, Hamm H, Perusquia-Ortiz AM, Zaraeva I, Diem A, Giehl K, Fölster-Holst R, Kiekbusch K, Höger P, Ott H, Traupe H. Oji V, et al. Among authors: giehl k. J Dtsch Dermatol Ges. 2017 Oct;15(10):1053-1065. doi: 10.1111/ddg.13340. J Dtsch Dermatol Ges. 2017. PMID: 28976107
Epidemiology of inherited epidermolysis bullosa in Germany.
Has C, Hess M, Anemüller W, Blume-Peytavi U, Emmert S, Fölster-Holst R, Frank J, Giehl K, Günther C, Hammersen J, Hillmann K, Höflein B, Hoeger PH, Hotz A, Mai TA, Oji V, Schneider H, Süßmuth K, Tantcheva-Póor I, Thielking F, Zirn B, Fischer J, Reimer-Taschenbrecker A. Has C, et al. Among authors: giehl k. J Eur Acad Dermatol Venereol. 2023 Feb;37(2):402-410. doi: 10.1111/jdv.18637. Epub 2022 Nov 1. J Eur Acad Dermatol Venereol. 2023. PMID: 36196047
179 results