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

876 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay.
Thiel CT, Dörr HG, Trautmann U, Hoyer J, Hofmann K, Kraus C, Ekici AB, Reis A, Rauch A. Thiel CT, et al. Among authors: hofmann k. Eur J Med Genet. 2008 Jul-Aug;51(4):362-7. doi: 10.1016/j.ejmg.2008.03.001. Epub 2008 Mar 20. Eur J Med Genet. 2008. PMID: 18434272
Biallelic SEMA3A defects cause a novel type of syndromic short stature.
Hofmann K, Zweier M, Sticht H, Zweier C, Wittmann W, Hoyer J, Uebe S, van Haeringen A, Thiel CT, Ekici AB, Reis A, Rauch A. Hofmann K, et al. Am J Med Genet A. 2013 Nov;161A(11):2880-9. doi: 10.1002/ajmg.a.36250. Epub 2013 Oct 3. Am J Med Genet A. 2013. PMID: 24124006
Paediatric Personalized Research Network Switzerland (SwissPedHealth): a joint paediatric national data stream.
Mozun R, Belle FN, Agostini A, Baumgartner MR, Fellay J, Forrest CB, Froese DS, Giannoni E, Goetze S, Hofmann K, Latzin P, Lauener R, Martin Necker A, Ormond K, Pachlopnik Schmid J, Pedrioli PGA, Posfay-Barbe KM, Rauch A, M Schulzke S, Stocker M, Spycher BD, Vayena E, Welzel T, Zamboni N, Vogt JE, Schlapbach LJ, Bielicki JA, Kuehni CE; SwissPedHealth consortium. Mozun R, et al. Among authors: hofmann k. BMJ Open. 2024 Dec 26;14(12):e091884. doi: 10.1136/bmjopen-2024-091884. BMJ Open. 2024. PMID: 39725440 Free PMC article.
Distribution and diversity of classical deacylases in bacteria.
Graf LG, Moreno-Yruela C, Qin C, Schulze S, Palm GJ, Schmöker O, Wang N, Hocking DM, Jebeli L, Girbardt B, Berndt L, Dörre B, Weis DM, Janetzky M, Albrecht D, Zühlke D, Sievers S, Strugnell RA, Olsen CA, Hofmann K, Lammers M. Graf LG, et al. Among authors: hofmann k. Nat Commun. 2024 Nov 3;15(1):9496. doi: 10.1038/s41467-024-53903-0. Nat Commun. 2024. PMID: 39489725 Free PMC article.
876 results