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

65 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
BRCA Testing by Single-Molecule Molecular Inversion Probes.
Neveling K, Mensenkamp AR, Derks R, Kwint M, Ouchene H, Steehouwer M, van Lier B, Bosgoed E, Rikken A, Tychon M, Zafeiropoulou D, Castelein S, Hehir-Kwa J, Tjwan Thung D, Hofste T, Lelieveld SH, Bertens SM, Adan IB, Eijkelenboom A, Tops BB, Yntema H, Stokowy T, Knappskog PM, Høberg-Vetti H, Steen VM, Boyle E, Martin B, Ligtenberg MJ, Shendure J, Nelen MR, Hoischen A. Neveling K, et al. Among authors: stokowy t. Clin Chem. 2017 Feb;63(2):503-512. doi: 10.1373/clinchem.2016.263897. Epub 2016 Dec 14. Clin Chem. 2017. PMID: 27974384
Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.
Ngcungcu T, Oti M, Sitek JC, Haukanes BI, Linghu B, Bruccoleri R, Stokowy T, Oakeley EJ, Yang F, Zhu J, Sultan M, Schalkwijk J, van Vlijmen-Willems IMJJ, von der Lippe C, Brunner HG, Ersland KM, Grayson W, Buechmann-Moller S, Sundnes O, Nirmala N, Morgan TM, van Bokhoven H, Steen VM, Hull PR, Szustakowski J, Staedtler F, Zhou H, Fiskerstrand T, Ramsay M. Ngcungcu T, et al. Among authors: stokowy t. Am J Hum Genet. 2017 May 4;100(5):737-750. doi: 10.1016/j.ajhg.2017.03.012. Epub 2017 Apr 27. Am J Hum Genet. 2017. PMID: 28457472 Free PMC article.
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P, Simons A, AlZahrani MS, Yilmaz E, AlIdrissi E, van Aerde KJ, Alenezi N, AlGhamdi HA, AlJubab HA, Al-Hussaini AA, AlManjomi F, Alsaad AB, Alsaleem B, Andijani AA, Asery A, Ballourah W, Bleeker-Rovers CP, van Deuren M, van der Flier M, Gerkes EH, Gilissen C, Habazi MK, Hehir-Kwa JY, Henriet SS, Hoppenreijs EP, Hortillosa S, Kerkhofs CH, Keski-Filppula R, Lelieveld SH, Lone K, MacKenzie MA, Mensenkamp AR, Moilanen J, Nelen M, Ten Oever J, Potjewijd J, van Paassen P, Schuurs-Hoeijmakers JHM, Simon A, Stokowy T, van de Vorst M, Vreeburg M, Wagner A, van Well GTJ, Zafeiropoulou D, Zonneveld-Huijssoon E, Veltman JA, van Zelst-Stams WAG, Faqeih EA, van de Veerdonk FL, Netea MG, Hoischen A. Arts P, et al. Among authors: stokowy t. Genome Med. 2019 Jun 17;11(1):38. doi: 10.1186/s13073-019-0649-3. Genome Med. 2019. PMID: 31203817 Free PMC article.
Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies.
Holtan JP, Aukrust I, Jansson RW, Berland S, Bruland O, Gjerde BL, Stokowy T, Bojovic O, Forsaa V, Austeng D, Rødahl E, Bredrup C, Knappskog PM, Bragadóttir R. Holtan JP, et al. Among authors: stokowy t. Acta Ophthalmol. 2021 Aug;99(5):e733-e746. doi: 10.1111/aos.14679. Epub 2020 Nov 30. Acta Ophthalmol. 2021. PMID: 33258285 Free article.
Next-generation sequencing (NGS) in the identification of encephalitis-causing viruses: Unexpected detection of human herpesvirus 1 while searching for RNA pathogens.
Perlejewski K, Popiel M, Laskus T, Nakamura S, Motooka D, Stokowy T, Lipowski D, Pollak A, Lechowicz U, Caraballo Cortés K, Stępień A, Radkowski M, Bukowska-Ośko I. Perlejewski K, et al. Among authors: stokowy t. J Virol Methods. 2015 Dec 15;226:1-6. doi: 10.1016/j.jviromet.2015.09.010. Epub 2015 Sep 28. J Virol Methods. 2015. PMID: 26424618 Free article.
Somatic mutation profiling of follicular thyroid cancer by next generation sequencing.
Swierniak M, Pfeifer A, Stokowy T, Rusinek D, Chekan M, Lange D, Krajewska J, Oczko-Wojciechowska M, Czarniecka A, Jarzab M, Jarzab B, Wojtas B. Swierniak M, et al. Among authors: stokowy t. Mol Cell Endocrinol. 2016 Sep 15;433:130-7. doi: 10.1016/j.mce.2016.06.007. Epub 2016 Jun 6. Mol Cell Endocrinol. 2016. PMID: 27283500 Free article.
65 results