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

254 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Variability in hepatic expression of organic anion transporter 7/SLC22A9, a novel pravastatin uptake transporter: impact of genetic and regulatory factors.
Emami Riedmaier A, Burk O, van Eijck BA, Schaeffeler E, Klein K, Fehr S, Biskup S, Müller S, Winter S, Zanger UM, Schwab M, Nies AT. Emami Riedmaier A, et al. Among authors: biskup s. Pharmacogenomics J. 2016 Aug;16(4):341-51. doi: 10.1038/tpj.2015.55. Epub 2015 Aug 4. Pharmacogenomics J. 2016. PMID: 26239079
The question of WGS's clinical utility remains unanswered.
Battke F, Schulte B, Schulze M, Biskup S. Battke F, et al. Among authors: biskup s. Eur J Hum Genet. 2021 May;29(5):722-723. doi: 10.1038/s41431-021-00823-y. Epub 2021 Feb 17. Eur J Hum Genet. 2021. PMID: 33597733 Free PMC article. No abstract available.
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J. Glöckle N, et al. Among authors: biskup s. Eur J Hum Genet. 2014 Jan;22(1):99-104. doi: 10.1038/ejhg.2013.72. Epub 2013 Apr 17. Eur J Hum Genet. 2014. PMID: 23591405 Free PMC article.
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M. Tropitzsch A, et al. Among authors: biskup s. Ear Hear. 2022 May/Jun;43(3):1049-1066. doi: 10.1097/AUD.0000000000001159. Ear Hear. 2022. PMID: 34753855 Free PMC article.
Trio exome sequencing is highly relevant in prenatal diagnostics.
Gabriel H, Korinth D, Ritthaler M, Schulte B, Battke F, von Kaisenberg C, Wüstemann M, Schulze B, Friedrich-Freksa A, Pfeiffer L, Entezami M, Schröer A, Bürger J, Schwaibold EMC, Lebek H, Biskup S. Gabriel H, et al. Among authors: biskup s. Prenat Diagn. 2022 Jun;42(7):845-851. doi: 10.1002/pd.6081. Epub 2021 Dec 27. Prenat Diagn. 2022. PMID: 34958143 Free PMC article.
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Dohrn MF, Glöckle N, Mulahasanovic L, Heller C, Mohr J, Bauer C, Riesch E, Becker A, Battke F, Hörtnagel K, Hornemann T, Suriyanarayanan S, Blankenburg M, Schulz JB, Claeys KG, Gess B, Katona I, Ferbert A, Vittore D, Grimm A, Wolking S, Schöls L, Lerche H, Korenke GC, Fischer D, Schrank B, Kotzaeridou U, Kurlemann G, Dräger B, Schirmacher A, Young P, Schlotter-Weigel B, Biskup S. Dohrn MF, et al. Among authors: biskup s. J Neurochem. 2017 Dec;143(5):507-522. doi: 10.1111/jnc.14217. Epub 2017 Nov 7. J Neurochem. 2017. PMID: 28902413 Free article.
254 results