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

129 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Deeplasia: deep learning for bone age assessment validated on skeletal dysplasias.
Rassmann S, Keller A, Skaf K, Hustinx A, Gausche R, Ibarra-Arrelano MA, Hsieh TC, Madajieu YED, Nöthen MM, Pfäffle R, Attenberger UI, Born M, Mohnike K, Krawitz PM, Javanmardi B. Rassmann S, et al. Among authors: krawitz pm. Pediatr Radiol. 2024 Jan;54(1):82-95. doi: 10.1007/s00247-023-05789-1. Epub 2023 Nov 13. Pediatr Radiol. 2024. PMID: 37953411 Free PMC article.
Jannovar: a java library for exome annotation.
Jäger M, Wang K, Bauer S, Smedley D, Krawitz P, Robinson PN. Jäger M, et al. Hum Mutat. 2014 May;35(5):548-55. doi: 10.1002/humu.22531. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24677618
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.
Zemojtel T, Köhler S, Mackenroth L, Jäger M, Hecht J, Krawitz P, Graul-Neumann L, Doelken S, Ehmke N, Spielmann M, Oien NC, Schweiger MR, Krüger U, Frommer G, Fischer B, Kornak U, Flöttmann R, Ardeshirdavani A, Moreau Y, Lewis SE, Haendel M, Smedley D, Horn D, Mundlos S, Robinson PN. Zemojtel T, et al. Sci Transl Med. 2014 Sep 3;6(252):252ra123. doi: 10.1126/scitranslmed.3009262. Sci Transl Med. 2014. PMID: 25186178 Free PMC article.
Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations.
Ibrahim DM, Hansen P, Rödelsperger C, Stiege AC, Doelken SC, Horn D, Jäger M, Janetzki C, Krawitz P, Leschik G, Wagner F, Scheuer T, Schmidt-von Kegler M, Seemann P, Timmermann B, Robinson PN, Mundlos S, Hecht J. Ibrahim DM, et al. Genome Res. 2013 Dec;23(12):2091-102. doi: 10.1101/gr.157610.113. Epub 2013 Aug 30. Genome Res. 2013. PMID: 23995701 Free PMC article.
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D. Kolanczyk M, et al. Eur J Hum Genet. 2015 May;23(5):633-8. doi: 10.1038/ejhg.2014.109. Epub 2014 Jun 11. Eur J Hum Genet. 2015. PMID: 24916641 Free PMC article.
129 results