2023 https://www.medgen.uzh.ch/de/news_events_pub/news/2023.html Publikation von 01.12.2023 https://www.medgen.uzh.ch/de/news_events_pub/news/2023/The-atypical-sphingolipid.html Sphingolipids (SL) represent a structurally diverse class of lipids that are central to cellular physiology and neuronal development and function. Read this publication in the Journal of Lipid Research

]]> Thu, 30 Nov 2023 23:00:00 GMT https://www.medgen.uzh.ch/de/news_events_pub/news/2023/The-atypical-sphingolipid.html Andreas Hülsmeier, Sandra Toelle, Peter Bellstedt, Christian Wentzel, Angela Bahr, Konstantinos Kolokotronis, Thorsten Hornemann, Andreas Hülsmeier 2023-11-30T23:00:00Z Swiss-Korean Life Science Symposium https://www.medgen.uzh.ch/de/news_events_pub/news/2023/2023-Swiss-Korean-Life-Science-Symposium.html UZH researchers Anita Rauch and Michael Baudis were invited to the 2023 Swiss-Korean Life Science Symposium, a testament to their impactful work in genetics and personalized healthcare.

]]> Wed, 11 Oct 2023 22:00:00 GMT https://www.medgen.uzh.ch/de/news_events_pub/news/2023/2023-Swiss-Korean-Life-Science-Symposium.html Anne Nuria Boekhout 2023-10-11T22:00:00Z Am 05.10.2023 findet unser Betriebsausflug statt und das Institut bleibt geschlossen. https://www.medgen.uzh.ch/de/news_events_pub/news/2023/closed.html Das Institutstelefon wird an diesem Tag nicht bedient und Ihre Emails können nicht beantwortet werden. Anmeldungen oder Anfragen werden ab dem 06.10.23 wieder bearbeitet.

]]> Wed, 04 Oct 2023 22:00:00 GMT https://www.medgen.uzh.ch/de/news_events_pub/news/2023/closed.html 2023-10-04T22:00:00Z A computational framework for the inference of protein complex remodeling from whole-proteome measurements. https://www.medgen.uzh.ch/de/news_events_pub/news/2023/naturemethods0.html Protein complexes are responsible for the enactment of most cellular functions. For the protein complex to form and function, its subunits often need to be present at defined quantitative ratios. 

Read this publication in Nature Methods.

]]> Sun, 24 Sep 2023 22:00:00 GMT https://www.medgen.uzh.ch/de/news_events_pub/news/2023/naturemethods0.html Marija Buljan , Amir Banaei-Esfahani , Peter Blattmann, Fabienne Meier-Abt, Wenguang Shao, lga Vitek, Hua Tang, Ruedi Aebersold 2023-09-24T22:00:00Z Exploring endometriosis: a surprisingly common disease https://www.medgen.uzh.ch/de/news_events_pub/news/2023/endometriosis.html Summary:
- Endometriosis is a common chronic inflammatory disease affecting one in ten menstruating women.
- Symptoms include painful menstruation, fatigue and infertility, which impacts day-to-day life, personal relationships and work productivity.
- Diagnosis can be a long and tricky process, but improvements made in imaging technology could reduce invasive diagnostic procedures.
- Treatment options include hormonal birth control as medication, other hormone treatment and surgery.

]]> Tue, 12 Sep 2023 22:00:00 GMT https://www.medgen.uzh.ch/de/news_events_pub/news/2023/endometriosis.html Nicolina Zjacic 2023-09-12T22:00:00Z Jetzt ist auch der Mann entschlüsselt https://www.medgen.uzh.ch/de/news_events_pub/news/2023/tagi20230907.html Das Y-Chromosom gibt viele Rätsel auf, nun konnte man es erstmals komplett lesen. Mit Genetikerin Anita Rauch.

Artikel im TAGES-ANZEIGER

]]> Wed, 06 Sep 2023 22:00:00 GMT https://www.medgen.uzh.ch/de/news_events_pub/news/2023/tagi20230907.html Alexandra Bröhm 2023-09-06T22:00:00Z KBG Syndrome (Artikel) https://www.medgen.uzh.ch/de/news_events_pub/news/2023/kbg.html Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

]]> Tue, 15 Aug 2023 22:00:00 GMT https://www.medgen.uzh.ch/de/news_events_pub/news/2023/kbg.html 2023-08-15T22:00:00Z Fresh in: https://www.medgen.uzh.ch/de/news_events_pub/news/2023/perspectives.html Perspectives of Swiss Paediatric Health Care Professionals on Factors Influencing Physical Activity Participation in Children with Disabilities

]]> Mon, 14 Aug 2023 09:59:19 GMT https://www.medgen.uzh.ch/de/news_events_pub/news/2023/perspectives.html 2023-08-14T09:59:19Z Neueste Publikation jetzt online https://www.medgen.uzh.ch/de/news_events_pub/news/2023/pheno.html PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

]]> Wed, 09 Aug 2023 11:39:42 GMT https://www.medgen.uzh.ch/de/news_events_pub/news/2023/pheno.html 2023-08-09T11:39:42Z Publikation von 05.08.2023 https://www.medgen.uzh.ch/de/news_events_pub/news/2023/smarcc22.html Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

]]> Fri, 04 Aug 2023 22:00:00 GMT https://www.medgen.uzh.ch/de/news_events_pub/news/2023/smarcc22.html 2023-08-04T22:00:00Z Neueste Publikation jetzt online https://www.medgen.uzh.ch/de/news_events_pub/news/2023/med27_pub0.html Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders 

]]> Thu, 03 Aug 2023 09:42:48 GMT https://www.medgen.uzh.ch/de/news_events_pub/news/2023/med27_pub0.html 2023-08-03T09:42:48Z Neuen Webauftritt https://www.medgen.uzh.ch/de/news_events_pub/news/2023/webauftritt.html News, Events & Publikationen

]]> Thu, 27 Jul 2023 22:00:00 GMT https://www.medgen.uzh.ch/de/news_events_pub/news/2023/webauftritt.html 2023-07-27T22:00:00Z