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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

395 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.
Schröder S, Li Y, Yigit G, Altmüller J, Bader I, Bevot A, Biskup S, Dreha-Kulaczewski S, Christoph Korenke G, Kottke R, Mayr JA, Preisel M, Toelle SP, Wente-Schulz S, Wortmann SB, Hahn H, Boltshauser E, Uhmann A, Wollnik B, Brockmann K. Schröder S, et al. Among authors: brockmann k. Genet Med. 2021 Feb;23(2):341-351. doi: 10.1038/s41436-020-00979-w. Epub 2020 Oct 7. Genet Med. 2021. PMID: 33024317 Free PMC article.
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F. Budde BS, et al. Among authors: brockmann k. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204. Nat Genet. 2008. PMID: 18711368
Unilateral dilation of virchow-robin spaces in early childhood.
Brockmann K, Gröschel S, Dreha-Kulaczewski S, Reinhardt K, Gärtner J, Dechent P. Brockmann K, et al. Neuropediatrics. 2009 Oct;40(5):234-8. doi: 10.1055/s-0029-1246158. Epub 2010 Mar 10. Neuropediatrics. 2009. PMID: 20221960
Assessment of myelination in hypomyelinating disorders by quantitative MRI.
Dreha-Kulaczewski SF, Brockmann K, Henneke M, Dechent P, Wilken B, Gärtner J, Helms G. Dreha-Kulaczewski SF, et al. Among authors: brockmann k. J Magn Reson Imaging. 2012 Dec;36(6):1329-38. doi: 10.1002/jmri.23774. Epub 2012 Aug 21. J Magn Reson Imaging. 2012. PMID: 22911904
A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females.
Dreha-Kulaczewski S, Kalscheuer V, Tzschach A, Hu H, Helms G, Brockmann K, Weddige A, Dechent P, Schlüter G, Krätzner R, Ropers HH, Gärtner J, Zirn B. Dreha-Kulaczewski S, et al. Among authors: brockmann k. JIMD Rep. 2014;13:91-9. doi: 10.1007/8904_2013_261. Epub 2013 Nov 5. JIMD Rep. 2014. PMID: 24190795 Free PMC article.
CHARGE and Kabuki syndromes: a phenotypic and molecular link.
Schulz Y, Freese L, Mänz J, Zoll B, Völter C, Brockmann K, Bögershausen N, Becker J, Wollnik B, Pauli S. Schulz Y, et al. Among authors: brockmann k. Hum Mol Genet. 2014 Aug 15;23(16):4396-405. doi: 10.1093/hmg/ddu156. Epub 2014 Apr 4. Hum Mol Genet. 2014. PMID: 24705355
395 results