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

149 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.
Bayram Y, White JJ, Elcioglu N, Cho MT, Zadeh N, Gedikbasi A, Palanduz S, Ozturk S, Cefle K, Kasapcopur O, Coban Akdemir Z, Pehlivan D, Begtrup A, Carvalho CMB, Paine IS, Mentes A, Bektas-Kayhan K, Karaca E, Jhangiani SN, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics; Gibbs RA, Lupski JR. Bayram Y, et al. Among authors: pehlivan d. Am J Hum Genet. 2017 Jul 6;101(1):149-156. doi: 10.1016/j.ajhg.2017.06.006. Am J Hum Genet. 2017. PMID: 28686854 Free PMC article.
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
Bayram Y, Pehlivan D, Karaca E, Gambin T, Jhangiani SN, Erdin S, Gonzaga-Jauregui C, Wiszniewski W, Muzny D; Baylor-Hopkins Center for Mendelian Genomics; Elcioglu NH, Yildirim MS, Bozkurt B, Zamani AG, Boerwinkle E, Gibbs RA, Lupski JR. Bayram Y, et al. Among authors: pehlivan d. Am J Med Genet A. 2014 Sep;164A(9):2328-34. doi: 10.1002/ajmg.a.36678. Epub 2014 Jul 14. Am J Med Genet A. 2014. PMID: 25045128 Free PMC article.
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.
Karaca E, Yuregir OO, Bozdogan ST, Aslan H, Pehlivan D, Jhangiani SN, Akdemir ZC, Gambin T, Bayram Y, Atik MM, Erdin S, Muzny D, Gibbs RA, Lupski JR; Baylor-Hopkins Center for Mendelian Genomics. Karaca E, et al. Among authors: pehlivan d. Am J Med Genet A. 2015 Nov;167A(11):2795-9. doi: 10.1002/ajmg.a.37263. Epub 2015 Aug 4. Am J Med Genet A. 2015. PMID: 26238661 Free PMC article.
149 results