Fischer J - Search Results

1

CRISPR-Cas12a for Highly Efficient and Marker-Free Targeted Integration in Human Pluripotent Stem Cells.

Hammad R, Alzubi J, Rhiel M, Chmielewski KO, Mosti L, Rositzka J, Heugel M, Lawrenz J, Pennucci V, Gläser B, Fischer J, Schambach A, Moritz T, Lachmann N, Cornu TI, Mussolino C, Schäfer R, Cathomen T. Hammad R, et al. Among authors: fischer j. Int J Mol Sci. 2024 Jan 12;25(2):985. doi: 10.3390/ijms25020985. Int J Mol Sci. 2024. PMID: 38256061 Free PMC article.

2

Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation.

Schnause AC, Komlosi K, Herr B, Neesen J, Dremsek P, Schwarz T, Tzschach A, Jägle S, Lausch E, Fischer J, Gläser B. Schnause AC, et al. Among authors: fischer j. Genes (Basel). 2021 Nov 21;12(11):1836. doi: 10.3390/genes12111836. Genes (Basel). 2021. PMID: 34828442 Free PMC article.

3

Confetti cure: reversing the genetic kaleidoscope of ichthyosis.

Fischer J. Fischer J. Br J Dermatol. 2024 Aug 14;191(3):320-321. doi: 10.1093/bjd/ljae248. Br J Dermatol. 2024. PMID: 38857924 No abstract available.

4

Adding up the desmosomal genes causing syndromes with hair and skin involvement: identification of TUFT1 by state-of-the-art whole-genome sequencing.

Fischer J, Alter S. Fischer J, et al. Br J Dermatol. 2023 Jan 23;188(1):8-9. doi: 10.1093/bjd/ljac073. Br J Dermatol. 2023. PMID: 36689526 No abstract available.

5

Case Report: Diagnostic and Therapeutic Challenges in Severe Mechanobullous Epidermolysis Bullosa Acquisita.

Schauer F, Nyström A, Kunz M, Hübner S, Scholl S, Athanasiou I, Alter S, Fischer J, Has C, Kiritsi D. Schauer F, et al. Among authors: fischer j. Front Immunol. 2022 Apr 7;13:883967. doi: 10.3389/fimmu.2022.883967. eCollection 2022. Front Immunol. 2022. PMID: 35464429 Free PMC article.

6

Postzygotic HRAS mutation in heterochromia of straight scalp hair.

Has C, Happle R, Fischer J, Grüninger G, Technau-Hafsi K. Has C, et al. Among authors: fischer j. Br J Dermatol. 2019 Nov;181(5):1074-1076. doi: 10.1111/bjd.18045. Epub 2019 Jul 11. Br J Dermatol. 2019. PMID: 31021405 No abstract available.

7

First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant.

Alter S, Farassat N, Küchlin S, Lagrèze WA, Fischer J. Alter S, et al. Among authors: fischer j. Genes (Basel). 2022 Mar 8;13(3):478. doi: 10.3390/genes13030478. Genes (Basel). 2022. PMID: 35328032 Free PMC article.

8

Biologic therapy targeting IL-17 ameliorates a case of congenital ichthyosiform cornification disorder.

Haiges D, Fischer J, Hörer S, Has C, Schempp CM. Haiges D, et al. Among authors: fischer j. J Dtsch Dermatol Ges. 2019 Jan;17(1):70-72. doi: 10.1111/ddg.13716. Epub 2018 Dec 3. J Dtsch Dermatol Ges. 2019. PMID: 30506809 No abstract available.

9

Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected Skin.

Jägle S, Juratli HA, Hickman G, Süssmuth K, Boente MC, Kopp J, Kirchmeier P, Zimmer A, Happle R, Bourrat E, Hamm H, Fischer J. Jägle S, et al. Among authors: fischer j. Acta Derm Venereol. 2021 Feb 16;101(2):adv00397. doi: 10.2340/00015555-3753. Acta Derm Venereol. 2021. PMID: 33491095 Free PMC article.

10

Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.

Radner FP, Marrakchi S, Kirchmeier P, Kim GJ, Ribierre F, Kamoun B, Abid L, Leipoldt M, Turki H, Schempp W, Heilig R, Lathrop M, Fischer J. Radner FP, et al. Among authors: fischer j. PLoS Genet. 2013 Jun;9(6):e1003536. doi: 10.1371/journal.pgen.1003536. Epub 2013 Jun 6. PLoS Genet. 2013. PMID: 23754960 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

6,001 results

Search Page

Filters