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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2009 1
2014 1
2015 1
2019 1
2020 1
2021 1
2022 2
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

8 results

Results by year

Filters applied: . Clear all
Page 1
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J, Koller S, Bähr L, Feil S, Kivrak Pfiffner F, Hanson JVM, Maspoli A, Gerth-Kahlert C, Berger W. Maggi J, et al. Among authors: kivrak pfiffner f. Int J Mol Sci. 2021 Feb 3;22(4):1508. doi: 10.3390/ijms22041508. Int J Mol Sci. 2021. PMID: 33546218 Free PMC article.
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S. Reurink J, et al. Among authors: pfiffner fk. HGG Adv. 2023 Jan 18;4(2):100181. doi: 10.1016/j.xhgg.2023.100181. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 36785559 Free PMC article.
Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment.
Kivrak Pfiffner F, Koller S, Ménétrey A, Graf U, Bähr L, Maspoli A, Hackenberg A, Kottke R, Gerth-Kahlert C, Berger W. Kivrak Pfiffner F, et al. Int J Mol Sci. 2022 Jul 2;23(13):7382. doi: 10.3390/ijms23137382. Int J Mol Sci. 2022. PMID: 35806387 Free PMC article.
A new in vivo magnetic resonance imaging method to noninvasively monitor and quantify the perfusion capacity of three-dimensional biomaterials grown on the chorioallantoic membrane of chick embryos.
Kivrak Pfiffner F, Waschkies C, Tian Y, Woloszyk A, Calcagni M, Giovanoli P, Rudin M, Buschmann J. Kivrak Pfiffner F, et al. Tissue Eng Part C Methods. 2015 Apr;21(4):339-46. doi: 10.1089/ten.TEC.2014.0212. Epub 2014 Nov 14. Tissue Eng Part C Methods. 2015. PMID: 25266825 Free article.