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

21 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data.
Frederiksen JH, Birkedal U, Bachmann S, Eliesen EV, Rasmussen LJ, Pedersen KV, Al-Zehhawi L, Boonen SE, Krogh L, Rønlund K, Graversen L, Assenholt J, Schmiegelow K, Wadt K, Gerdes AM, Hansen TVO. Frederiksen JH, et al. Among authors: graversen l. Mol Genet Genomic Med. 2024 Nov;12(11):e70026. doi: 10.1002/mgg3.70026. Mol Genet Genomic Med. 2024. PMID: 39548353 Free PMC article.
Hailey-Hailey Disease Caused by a Novel Deep Intronic Variant in ATP2C1.
Blechingberg J, Terkelsen T, Jensen UB, Rønholt K, Sommerlund M, Vinter H, Graversen L. Blechingberg J, et al. Among authors: graversen l. Am J Med Genet A. 2024 Nov 10:e63933. doi: 10.1002/ajmg.a.63933. Online ahead of print. Am J Med Genet A. 2024. PMID: 39523677
Monitoring the Structural Changes in Iridium Nanoparticles during Oxygen Evolution Electrocatalysis with Operando X-ray Total Scattering.
Pittkowski RK, Punke S, Anker AS, Bornet A, Magnard NPL, Schlegel N, Graversen LG, Quinson J, Dworzak A, Oezaslan M, Kirkensgaard JJK, Mirolo M, Drnec J, Arenz M, Jensen KMØ. Pittkowski RK, et al. Among authors: graversen lg. J Am Chem Soc. 2024 Oct 9;146(40):27517-27527. doi: 10.1021/jacs.4c08149. Epub 2024 Sep 29. J Am Chem Soc. 2024. PMID: 39344255 Free PMC article.
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.
Herlin LK, Herlin MK, Blechingberg J, Rønholt K, Graversen L, Schmidt SAJ, Jørgensen MW, Hellfritzsch MB, Hald JD, Beck-Nielsen SS, Gjørup H, Andersen BN, Gregersen PA, Sommerlund M. Herlin LK, et al. Among authors: graversen l. Eur J Med Genet. 2024 Jun;69:104937. doi: 10.1016/j.ejmg.2024.104937. Epub 2024 Apr 2. Eur J Med Genet. 2024. PMID: 38574886 Free article.
Prevalence and Patient Characteristics of Ectodermal Dysplasias in Denmark.
Herlin LK, Schmidt SAJ, Hermann XB, Rønholt K, Bygum A, Schuster A, Lei U, Mogensen M, Vinding GR, Djursby M, Hove H, Blechingberg J, Graversen L, Mogensen TH, Gjørup H, Langan SM, Sommerlund M. Herlin LK, et al. Among authors: graversen l. JAMA Dermatol. 2024 May 1;160(5):502-510. doi: 10.1001/jamadermatol.2024.0036. JAMA Dermatol. 2024. PMID: 38477886
Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers.
Joo JE, Mahmood K, Walker R, Georgeson P, Candiloro I, Clendenning M, Como J, Joseland S, Preston S, Graversen L, Wilding M, Field M, Lemon M, Wakeling J, Marfan H, Susman R, Isbister J, Edwards E, Bowman M, Kirk J, Ip E, McKay L, Antill Y, Hopper JL, Boussioutas A, Macrae FA, Dobrovic A, Jenkins MA, Rosty C, Winship IM, Buchanan DD. Joo JE, et al. Among authors: graversen l. Clin Epigenetics. 2023 Jun 3;15(1):95. doi: 10.1186/s13148-023-01511-y. Clin Epigenetics. 2023. PMID: 37270516 Free PMC article.
21 results