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

736 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
NR4A2 and Dystonia with Dopa Responsiveness.
Winter B, Krämer J, Meinhardt T, Berner D, Alt K, Wenzel M, Winkelmann J, Zech M. Winter B, et al. Among authors: wenzel m. Mov Disord. 2021 Sep;36(9):2203-2204. doi: 10.1002/mds.28701. Epub 2021 Jun 21. Mov Disord. 2021. PMID: 34155693 No abstract available.
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.
Riedhammer KM, Stockler S, Ploski R, Wenzel M, Adis-Dutschmann B, Ahting U, Alhaddad B, Blaschek A, Haack TB, Kopajtich R, Lee J, Murcia Pienkowski V, Pollak A, Szymanska K, Tarailo-Graovac M, van der Lee R, van Karnebeek CD, Meitinger T, Krägeloh-Mann I, Vill K. Riedhammer KM, et al. Among authors: wenzel m. Brain. 2021 Mar 3;144(2):411-419. doi: 10.1093/brain/awaa410. Brain. 2021. PMID: 33313762 Free PMC article.
CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph.
Peng C, Dieck S, Schmid A, Ahmad A, Knaus A, Wenzel M, Mehnert L, Zirn B, Haack T, Ossowski S, Wagner M, Brunet T, Ehmke N, Danyel M, Rosnev S, Kamphans T, Nadav G, Fleischer N, Fröhlich H, Krawitz P. Peng C, et al. Among authors: wenzel m. NAR Genom Bioinform. 2021 Sep 3;3(3):lqab078. doi: 10.1093/nargab/lqab078. eCollection 2021 Sep. NAR Genom Bioinform. 2021. PMID: 34514393 Free PMC article.
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.
Li C, Beauregard-Lacroix E, Kondratev C, Rousseau J, Heo AJ, Neas K, Graham BH, Rosenfeld JA, Bacino CA, Wagner M, Wenzel M, Al Mutairi F, Al Deiab H, Gleeson JG, Stanley V, Zaki MS, Kwon YT, Leroux MR, Campeau PM. Li C, et al. Among authors: wenzel m. Am J Hum Genet. 2021 Jan 7;108(1):134-147. doi: 10.1016/j.ajhg.2020.11.018. Epub 2020 Dec 18. Am J Hum Genet. 2021. PMID: 33340455 Free PMC article.
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.
Beygo J, Küchler A, Gillessen-Kaesbach G, Albrecht B, Eckle J, Eggermann T, Gellhaus A, Kanber D, Kordaß U, Lüdecke HJ, Purmann S, Rossier E, van de Nes J, van der Werf IM, Wenzel M, Wieczorek D, Horsthemke B, Buiting K. Beygo J, et al. Among authors: wenzel m. Eur J Hum Genet. 2017 Aug;25(8):935-945. doi: 10.1038/ejhg.2017.91. Epub 2017 Jun 21. Eur J Hum Genet. 2017. PMID: 28635951 Free PMC article.
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, Bramswig NC, Albrecht B, Clayton-Smith J, Morton J, Tomkins S, Low K, Weber A, Wenzel M, Altmüller J, Li Y, Wollnik B, Hoganson G, Plona MR, Cho MT; Deciphering Developmental Disorders Study; Thiel CT, Lüdecke HJ, Strom TM, Calpena E, Wilkie AOM, Wieczorek D, Engel FB, Reis A. Vasileiou G, et al. Among authors: wenzel m. Am J Hum Genet. 2018 Mar 1;102(3):468-479. doi: 10.1016/j.ajhg.2018.01.014. Epub 2018 Feb 8. Am J Hum Genet. 2018. PMID: 29429572 Free PMC article.
Challenging the Urologist of the Future: Time for a Change?
Stangl FP, Heidegger I, Kraft P, Lammers RJM, Horvath M, Deger MD, Polo-Alonso E, Wenzel M, Affentranger A, Schou-Jensen K, Ali L, Keenan RA, Gallardo-Zamora L, Alva JF, Trerè D, Tsampoukas G, Hoyerup P, Cerrato C, Raison N, Brookman-May S, Vásquez JL. Stangl FP, et al. Among authors: wenzel m. Eur Urol. 2024 May 29:S0302-2838(24)02393-5. doi: 10.1016/j.eururo.2024.05.018. Online ahead of print. Eur Urol. 2024. PMID: 38811312
Urological surgery with the Hugo RAS™ System: insights into system adaptability.
Paciotti M, Bravi CA, Piramide F, Mottaran A, Sarchi L, Dell'oglio P, Turri F, DI Maida F, Liakos N, Andras I, Covas Moschovas M, Wenzel M, Sorce G, Wurnschimmel C, Lambert E, DE Groote R, Larcher A; Junior ERUS/Young Academic Urologists Working Group. Paciotti M, et al. Among authors: wenzel m. Minerva Urol Nephrol. 2024 Apr;76(2):267-270. doi: 10.23736/S2724-6051.24.05879-8. Minerva Urol Nephrol. 2024. PMID: 38742562 No abstract available.
736 results