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

238 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
Bögershausen N, Krawczyk HE, Jamra RA, Lin SJ, Yigit G, Hüning I, Polo AM, Vona B, Huang K, Schmidt J, Altmüller J, Luppe J, Platzer K, Dörgeloh BB, Busche A, Biskup S, Mendes MI, Smith DEC, Salomons GS, Zibat A, Bültmann E, Nürnberg P, Spielmann M, Lemke JR, Li Y, Zenker M, Varshney GK, Hillen HS, Kratz CP, Wollnik B. Bögershausen N, et al. Among authors: kratz cp. Hum Mutat. 2022 Oct;43(10):1454-1471. doi: 10.1002/humu.24430. Epub 2022 Jul 21. Hum Mutat. 2022. PMID: 35790048
[Update on Li-Fraumeni syndrome].
Dutzmann CM, Vogel J, Kratz CP, Pajtler KW, Pfister SM, Dörgeloh BB. Dutzmann CM, et al. Among authors: kratz cp. Pathologe. 2019 Nov;40(6):592-599. doi: 10.1007/s00292-019-00657-y. Pathologe. 2019. PMID: 31511974 Review. German.
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, Korinthenberg R, Kreiss-Nachtsheim M, Meinecke P, Morlot S, Mundlos S, Quante AS, Raskin S, Schnabel D, Wehner LE, Kratz CP, Horn D, Kutsche K. Zenker M, et al. Among authors: kratz cp. J Med Genet. 2007 Feb;44(2):131-5. doi: 10.1136/jmg.2006.046300. Epub 2006 Oct 20. J Med Genet. 2007. PMID: 17056636 Free PMC article.
238 results