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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

85 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome.
Viering DHHM, Hureaux M, Neveling K, Latta F, Kwint M, Blanchard A, Konrad M, Bindels RJM, Schlingmann KP, Vargas-Poussou R, de Baaij JHF. Viering DHHM, et al. Among authors: neveling k. J Am Soc Nephrol. 2023 Feb 1;34(2):333-345. doi: 10.1681/ASN.2022050627. Epub 2022 Nov 9. J Am Soc Nephrol. 2023. PMID: 36302598 Free PMC article.
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
Vermeer S, Hoischen A, Meijer RP, Gilissen C, Neveling K, Wieskamp N, de Brouwer A, Koenig M, Anheim M, Assoum M, Drouot N, Todorovic S, Milic-Rasic V, Lochmüller H, Stevanin G, Goizet C, David A, Durr A, Brice A, Kremer B, van de Warrenburg BP, Schijvenaars MM, Heister A, Kwint M, Arts P, van der Wijst J, Veltman J, Kamsteeg EJ, Scheffer H, Knoers N. Vermeer S, et al. Among authors: neveling k. Am J Hum Genet. 2010 Dec 10;87(6):813-9. doi: 10.1016/j.ajhg.2010.10.015. Epub 2010 Nov 18. Am J Hum Genet. 2010. PMID: 21092923 Free PMC article.
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
Estrada-Cuzcano A, Neveling K, Kohl S, Banin E, Rotenstreich Y, Sharon D, Falik-Zaccai TC, Hipp S, Roepman R, Wissinger B, Letteboer SJ, Mans DA, Blokland EA, Kwint MP, Gijsen SJ, van Huet RA, Collin RW, Scheffer H, Veltman JA, Zrenner E; European Retinal Disease Consortium; den Hollander AI, Klevering BJ, Cremers FP. Estrada-Cuzcano A, et al. Among authors: neveling k. Am J Hum Genet. 2012 Jan 13;90(1):102-9. doi: 10.1016/j.ajhg.2011.11.015. Epub 2011 Dec 15. Am J Hum Genet. 2012. PMID: 22177090 Free PMC article.
Next-generation genetic testing for retinitis pigmentosa.
Neveling K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, Gijsen SJ, Zonneveld MN, Wieskamp N, de Ligt J, Siemiatkowska AM, Hoefsloot LH, Buckley MF, Kellner U, Branham KE, den Hollander AI, Hoischen A, Hoyng C, Klevering BJ, van den Born LI, Veltman JA, Cremers FP, Scheffer H. Neveling K, et al. Hum Mutat. 2012 Jun;33(6):963-72. doi: 10.1002/humu.22045. Epub 2012 Mar 19. Hum Mutat. 2012. PMID: 22334370 Free PMC article.
Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disability.
Iqbal Z, Neveling K, Razzaq A, Shahzad M, Zahoor MY, Qasim M, Gilissen C, Wieskamp N, Kwint MP, Gijsen S, de Brouwer AP, Veltman JA, Riazuddin S, van Bokhoven H. Iqbal Z, et al. Among authors: neveling k. Arch Med Res. 2012 May;43(4):312-6. doi: 10.1016/j.arcmed.2012.01.011. Epub 2012 Mar 3. Arch Med Res. 2012. PMID: 22387573
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. Clin Chem. 2017 Feb;63(2):503-512. doi: 10.1373/clinchem.2016.263897. Epub 2016 Dec 14. Clin Chem. 2017. PMID: 27974384
Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.
Sabatella M, Mantere T, Waanders E, Neveling K, Mensenkamp AR, van Dijk F, Hehir-Kwa JY, Derks R, Kwint M, O'Gorman L, Tropa Martins M, Gidding CE, Lequin MH, Küsters B, Wesseling P, Nelen M, Biegel JA, Hoischen A, Jongmans MC, Kuiper RP. Sabatella M, et al. Among authors: neveling k. J Pathol. 2021 Oct;255(2):202-211. doi: 10.1002/path.5755. Epub 2021 Jul 29. J Pathol. 2021. PMID: 34231212 Free PMC article.
RNA Sequencing Elucidates Drug-Specific Mechanisms of Antibiotic Tolerance and Resistance in Mycobacterium abscessus.
Schildkraut JA, Coolen JPM, Burbaud S, Sangen JJN, Kwint MP, Floto RA, Op den Camp HJM, Te Brake LHM, Wertheim HFL, Neveling K, Hoefsloot W, van Ingen J. Schildkraut JA, et al. Among authors: neveling k. Antimicrob Agents Chemother. 2022 Jan 18;66(1):e0150921. doi: 10.1128/AAC.01509-21. Epub 2021 Oct 11. Antimicrob Agents Chemother. 2022. PMID: 34633851 Free PMC article.
85 results