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

130 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology.
Pen AE, Nyegaard M, Fang M, Jiang H, Christensen R, Mølgaard H, Andersen H, Ulhøi BP, Østergaard JR, Væth S, Sommerlund M, de Brouwer AP, Zhang X, Jensen UB. Pen AE, et al. Among authors: molgaard h. Eur J Med Genet. 2015 Apr;58(4):222-9. doi: 10.1016/j.ejmg.2015.02.003. Epub 2015 Feb 25. Eur J Med Genet. 2015. PMID: 25724586
Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy.
Rasmussen TB, Palmfeldt J, Nissen PH, Magnoni R, Dalager S, Jensen UB, Kim WY, Heickendorff L, Mølgaard H, Jensen HK, Baandrup UT, Bross P, Mogensen J. Rasmussen TB, et al. Among authors: molgaard h. Hum Mutat. 2013 May;34(5):697-705. doi: 10.1002/humu.22289. Epub 2013 Mar 11. Hum Mutat. 2013. PMID: 23381804
130 results