Westphal DS - Search Results

1

A case report of RASA1-associated inherited lymphoedema with recurrent life-threatening lymphangitis.

Westphal DS, Bergmann K, Martens E, Ibrahim T. Westphal DS, et al. Eur Heart J Case Rep. 2021 Nov 8;5(11):ytab451. doi: 10.1093/ehjcr/ytab451. eCollection 2021 Nov. Eur Heart J Case Rep. 2021. PMID: 34859188 Free PMC article.

2

Myocarditis or inherited disease? - The multifaceted presentation of arrhythmogenic cardiomyopathy.

Westphal DS, Krafft H, Biller R, Klingel K, Gaa J, Mueller CS, Martens E. Westphal DS, et al. Gene. 2022 Jun 15;827:146470. doi: 10.1016/j.gene.2022.146470. Epub 2022 Apr 4. Gene. 2022. PMID: 35381313

3

Telemedical monitoring in patients with inborn cardiac disease - experience of a tertiary care centre.

Westphal DS, Federle D, Steger A, Vodermeier T, Scheiper-Welling S, Jenewein T, Beckmann BM, Kauferstein S, Martens E, Hahn F. Westphal DS, et al. Mamm Genome. 2023 Jun;34(2):323-330. doi: 10.1007/s00335-022-09972-x. Epub 2022 Dec 8. Mamm Genome. 2023. PMID: 36481846 Free PMC article.

4

The Role of RYR2 in Atrial Fibrillation.

Boehm BM, Gaa J, Hoppmann P, Martens E, Westphal DS. Boehm BM, et al. Among authors: westphal ds. Case Rep Cardiol. 2023 Mar 15;2023:6555998. doi: 10.1155/2023/6555998. eCollection 2023. Case Rep Cardiol. 2023. PMID: 36969731 Free PMC article.

5

There is more to it than just congenital heart defects - The phenotypic spectrum of TAB2-related syndrome.

Westphal DS, Mastantuono E, Seidel H, Riedhammer KM, Hahn A, Vill K, Wagner M. Westphal DS, et al. Gene. 2022 Mar 10;814:146167. doi: 10.1016/j.gene.2021.146167. Epub 2022 Jan 5. Gene. 2022. PMID: 34995729

6

Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants.

Härtl J, Hartberger J, Wunderlich S, Cordts I, Bafligil C, Sturm M; Regeneron Genetics Center; Westphal D, Haack T, Hemmer B, Ikenberg BD, Deschauer M. Härtl J, et al. J Neurol. 2023 Mar;270(3):1501-1511. doi: 10.1007/s00415-022-11401-7. Epub 2022 Nov 21. J Neurol. 2023. PMID: 36411388 Free PMC article.

7

Fetal Bradycardia Caused by Monogenic Disorders-A Review of the Literature.

Westphal DS, Hauser M, Beckmann BM, Wolf CM, Hessling G, Oberhoffer-Fritz R, Wacker-Gussmann A. Westphal DS, et al. J Clin Med. 2022 Nov 22;11(23):6880. doi: 10.3390/jcm11236880. J Clin Med. 2022. PMID: 36498454 Free PMC article. Review.

8

The missense variant p.(Gly482Arg) in HCN4 is responsible for fetal tachy-bradycardia syndrome.

Wacker-Gussmann A, Oberhoffer-Fritz R, Westphal DS, Hessling G, Wakai RT, Strasburger JF. Wacker-Gussmann A, et al. Among authors: westphal ds. HeartRhythm Case Rep. 2020 Mar 20;6(6):352-356. doi: 10.1016/j.hrcr.2020.03.003. eCollection 2020 Jun. HeartRhythm Case Rep. 2020. PMID: 32577394 Free PMC article. No abstract available.

9

De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.

Brunet T, Jech R, Brugger M, Kovacs R, Alhaddad B, Leszinski G, Riedhammer KM, Westphal DS, Mahle I, Mayerhanser K, Skorvanek M, Weber S, Graf E, Berutti R, Necpál J, Havránková P, Pavelekova P, Hempel M, Kotzaeridou U, Hoffmann GF, Leiz S, Makowski C, Roser T, Schroeder SA, Steinfeld R, Strobl-Wildemann G, Hoefele J, Borggraefe I, Distelmaier F, Strom TM, Winkelmann J, Meitinger T, Zech M, Wagner M. Brunet T, et al. Among authors: westphal ds. Clin Genet. 2021 Jul;100(1):14-28. doi: 10.1111/cge.13946. Epub 2021 Mar 1. Clin Genet. 2021. PMID: 33619735

10

Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes.

Breuer K, Riedhammer KM, Müller N, Schaidinger B, Dombrowsky G, Dittrich S, Zeidler S, Bauer UMM, Westphal DS, Meitinger T, Dakal TC, Hitz MP, Breuer J, Reutter H, Hilger AC, Hoefele J. Breuer K, et al. Among authors: westphal ds. Eur J Hum Genet. 2022 Aug;30(8):946-954. doi: 10.1038/s41431-022-01100-2. Epub 2022 Apr 26. Eur J Hum Genet. 2022. PMID: 35474353 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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

34 results

Search Page