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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

53 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.
He Y, Maier K, Leppert J, Hausser I, Schwieger-Briel A, Weibel L, Theiler M, Kiritsi D, Busch H, Boerries M, Hannula-Jouppi K, Heikkilä H, Tasanen K, Castiglia D, Zambruno G, Has C. He Y, et al. Am J Hum Genet. 2016 Dec 1;99(6):1395-1404. doi: 10.1016/j.ajhg.2016.11.005. Epub 2016 Nov 23. Am J Hum Genet. 2016. PMID: 27889062 Free PMC article.
Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy.
Schwieger-Briel A, Fuentes I, Castiglia D, Barbato A, Greutmann M, Leppert J, Duchatelet S, Hovnanian A, Burattini S, Yubero MJ, Ibañez-Arenas R, Rebolledo-Jaramillo B, Gräni C, Ott H, Theiler M, Weibel L, Paller AS, Zambruno G, Fischer J, Palisson F, Has C. Schwieger-Briel A, et al. J Invest Dermatol. 2019 Jan;139(1):244-249. doi: 10.1016/j.jid.2018.07.022. Epub 2018 Aug 16. J Invest Dermatol. 2019. PMID: 30120936 Free article. No abstract available.
Life-Threatening Primary Varicella Zoster Virus Infection With Hemophagocytic Lymphohistiocytosis-Like Disease in GATA2 Haploinsufficiency Accompanied by Expansion of Double Negative T-Lymphocytes.
Prader S, Felber M, Volkmer B, Trück J, Schwieger-Briel A, Theiler M, Weibel L, Hambleton S, Seipel K, Vavassori S, Pachlopnik Schmid J. Prader S, et al. Front Immunol. 2018 Dec 3;9:2766. doi: 10.3389/fimmu.2018.02766. eCollection 2018. Front Immunol. 2018. PMID: 30564229 Free PMC article.
Congenital hemangioma exhibiting postnatal growth.
Knöpfel N, Wälchli R, Luchsinger I, Theiler M, Weibel L, Schwieger-Briel A. Knöpfel N, et al. Pediatr Dermatol. 2019 Jul;36(4):548-549. doi: 10.1111/pde.13813. Epub 2019 Mar 21. Pediatr Dermatol. 2019. PMID: 30900306
A linear pruritic rash, arthralgia, and fever in a child.
Vogler T, Knöpfel N, Palmer S, Kolm I, Theiler Pang M, Weibel L, Schwieger-Briel A. Vogler T, et al. J Dtsch Dermatol Ges. 2019 Nov;17(11):1183-1186. doi: 10.1111/ddg.13932. Epub 2019 Sep 13. J Dtsch Dermatol Ges. 2019. PMID: 31515934 No abstract available.
53 results