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

304 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W, Sowlati-Hashjin S, Weile J, Hamilton R, Chawla A, Sheykhkarimli D, Gebbia M, Kishore N, Frésard L, Mustajoki S, Pischik E, Di Pierro E, Barbaro M, Floderus Y, Schmitt C, Gouya L, Colavin A, Nussbaum R, Friesema ECH, Kauppinen R, To-Figueras J, Aarsand AK, Desnick RJ, Garton M, Roth FP. van Loggerenberg W, et al. Among authors: kauppinen r. Am J Hum Genet. 2023 Oct 5;110(10):1769-1786. doi: 10.1016/j.ajhg.2023.08.012. Epub 2023 Sep 19. Am J Hum Genet. 2023. PMID: 37729906 Free PMC article.
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W, Sowlati-Hashjin S, Weile J, Hamilton R, Chawla A, Gebbia M, Kishore N, Frésard L, Mustajoki S, Pischik E, Di Pierro E, Barbaro M, Floderus Y, Schmitt C, Gouya L, Colavin A, Nussbaum R, Friesema ECH, Kauppinen R, To-Figueras J, Aarsand AK, Desnick RJ, Garton M, Roth FP. van Loggerenberg W, et al. Among authors: kauppinen r. bioRxiv [Preprint]. 2023 Feb 6:2023.02.06.527353. doi: 10.1101/2023.02.06.527353. bioRxiv. 2023. PMID: 36798224 Free PMC article. Updated. Preprint.
Pathogenesis of acute encephalopathy in acute hepatic porphyria.
Pischik E, Baumann K, Karpenko A, Kauppinen R. Pischik E, et al. Among authors: kauppinen r. J Neurol. 2023 May;270(5):2613-2630. doi: 10.1007/s00415-023-11586-5. Epub 2023 Feb 9. J Neurol. 2023. PMID: 36757574 Free PMC article.
Effects of rifampicin on porphyrin metabolism in healthy volunteers.
Tolonen H, Ranta S, Hämäläinen E, Kauppinen R, Hukkanen J. Tolonen H, et al. Among authors: kauppinen r. Basic Clin Pharmacol Toxicol. 2023 Mar;132(3):281-291. doi: 10.1111/bcpt.13826. Epub 2022 Dec 26. Basic Clin Pharmacol Toxicol. 2023. PMID: 36535687 Free article. Clinical Trial.
Timing the Ischemic Stroke by Multiparametric Quantitative Magnetic Resonance Imaging.
McGarry BL, Kauppinen RA. McGarry BL, et al. Among authors: kauppinen ra. In: Dehkharghani S, editor. Stroke [Internet]. Brisbane (AU): Exon Publications; 2021 Jun 18. Chapter 4. In: Dehkharghani S, editor. Stroke [Internet]. Brisbane (AU): Exon Publications; 2021 Jun 18. Chapter 4. PMID: 34279887 Free Books & Documents. Review.
304 results