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

121 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Clinical genetics and the Hutterite population: a review of Mendelian disorders.
Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Møller LB, Innes AM. Boycott KM, et al. Among authors: moller lb. Am J Med Genet A. 2008 Apr 15;146A(8):1088-98. doi: 10.1002/ajmg.a.32245. Am J Med Genet A. 2008. PMID: 18348266 Review.
Partial USH2A deletions contribute to Usher syndrome in Denmark.
Dad S, Rendtorff ND, Kann E, Albrechtsen A, Mehrjouy MM, Bak M, Tommerup N, Tranebjærg L, Rosenberg T, Jensen H, Møller LB. Dad S, et al. Among authors: moller lb. Eur J Hum Genet. 2015 Dec;23(12):1646-51. doi: 10.1038/ejhg.2015.54. Epub 2015 Mar 25. Eur J Hum Genet. 2015. PMID: 25804404 Free PMC article.
Usher syndrome in Denmark: mutation spectrum and some clinical observations.
Dad S, Rendtorff ND, Tranebjærg L, Grønskov K, Karstensen HG, Brox V, Nilssen Ø, Roux AF, Rosenberg T, Jensen H, Møller LB. Dad S, et al. Among authors: moller lb. Mol Genet Genomic Med. 2016 Jun 28;4(5):527-539. doi: 10.1002/mgg3.228. eCollection 2016 Sep. Mol Genet Genomic Med. 2016. PMID: 27957503 Free PMC article.
Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.
Ostergaard E, Moller LB, Kalkanoglu-Sivri HS, Dursun A, Kibaek M, Thelle T, Christensen E, Duno M, Wibrand F. Ostergaard E, et al. Among authors: moller lb. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S235-9. doi: 10.1007/s10545-009-1179-8. Epub 2009 Jun 11. J Inherit Metab Dis. 2009. PMID: 19517265
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C. Bonnet C, et al. Among authors: moller lb. Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27. Eur J Hum Genet. 2016. PMID: 27460420 Free PMC article.
121 results