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

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1987 1
1990 1
1992 1
2000 1
2001 3
2002 1
2003 3
2004 1
2010 1
2011 1
2016 1
2017 3
2019 1
2023 0

Text availability

Article attribute

Article type

Publication date

PubMed (Bookshelf cited) for id: 11161

18 results

Results by year

Filters applied: . Clear all
Page 1
Parental influence on human germline de novo mutations in 1,548 trios from Iceland.
Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Jónsson H, et al. Nature. 2017 Sep 28;549(7673):519-522. doi: 10.1038/nature24018. Epub 2017 Sep 20. Nature. 2017. PMID: 28959963
Phytanic acid metabolism in health and disease.
Wanders RJ, Komen J, Ferdinandusse S. Wanders RJ, et al. Biochim Biophys Acta. 2011 Sep;1811(9):498-507. doi: 10.1016/j.bbalip.2011.06.006. Epub 2011 Jun 13. Biochim Biophys Acta. 2011. PMID: 21683154 Review.
Hearing loss in adult Refsum's disease.
Bamiou DE, Spraggs PR, Gibberd FB, Sidey MC, Luxon LM. Bamiou DE, et al. Clin Otolaryngol Allied Sci. 2003 Jun;28(3):227-30. doi: 10.1046/j.1365-2273.2003.00694.x. Clin Otolaryngol Allied Sci. 2003. PMID: 12755761
Identification of PEX7 as the second gene involved in Refsum disease.
van den Brink DM, Brites P, Haasjes J, Wierzbicki AS, Mitchell J, Lambert-Hamill M, de Belleroche J, Jansen GA, Waterham HR, Wanders RJ. van den Brink DM, et al. Am J Hum Genet. 2003 Feb;72(2):471-7. doi: 10.1086/346093. Epub 2003 Jan 9. Am J Hum Genet. 2003. PMID: 12522768 Free PMC article.
18 results