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

Results by year

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

Year Number of Results
1994 2
1997 1
1998 2
1999 1
2000 3
2001 2
2002 5
2003 2
2004 3
2005 4
2006 4
2007 1
2008 4
2009 2
2010 2
2012 2
2013 3
2014 3
2015 3
2016 2
2017 2
2018 3
2020 1
2021 3
2022 3
2023 1
2024 3
2025 3

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

65 results

Results by year

Filters applied: . Clear all
Page 1
OMKar: optical map based automated karyotyping of genomes to identify constitutional abnormalities.
Dehkordi SR, Jia Z, Estabrook J, Hauenstein J, Miller N, Güleray-Lafci N, Neesen J, Hastie A, Chaubey A, Pang AWC, Dremsek P, Bafna V. Dehkordi SR, et al. medRxiv [Preprint]. 2025 Feb 14:2025.02.13.25322211. doi: 10.1101/2025.02.13.25322211. medRxiv. 2025. Update in: Genome Res. 2025 Dec 3;35(12):2671-2681. doi: 10.1101/gr.280536.125. PMID: 39990584 Free PMC article. Updated. Preprint.
Aneuploidy detection in pooled polar bodies using rapid nanopore sequencing.
Madritsch S, Arnold V, Haider M, Bosenge J, Pfeifer M, Weil B, Zechmeister M, Hengstschläger M, Neesen J, Laccone F. Madritsch S, et al. J Assist Reprod Genet. 2024 May;41(5):1261-1271. doi: 10.1007/s10815-024-03108-7. Epub 2024 Apr 20. J Assist Reprod Genet. 2024. PMID: 38642269 Free PMC article.
A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.
Frohne A, Koenighofer M, Cetin H, Nieratschker M, Liu DT, Laccone F, Neesen J, Nemec SF, Schwarz-Nemec U, Schoefer C, Avraham KB, Frei K, Grabmeier-Pfistershammer K, Kratzer B, Schmetterer K, Pickl WF, Parzefall T. Frohne A, et al. Hum Genet. 2023 Aug;142(8):1077-1089. doi: 10.1007/s00439-022-02506-0. Epub 2022 Nov 29. Hum Genet. 2023. PMID: 36445457 Free PMC article.
65 results