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

390 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Cartilage-hair hypoplasia.
Mäkitie O, Sulisalo T, de la Chapelle A, Kaitila I. Mäkitie O, et al. J Med Genet. 1995 Jan;32(1):39-43. doi: 10.1136/jmg.32.1.39. J Med Genet. 1995. PMID: 7897625 Free PMC article. Review. No abstract available.
Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.
Jackson GC, Barker FS, Jakkula E, Czarny-Ratajczak M, Mäkitie O, Cole WG, Wright MJ, Smithson SF, Suri M, Rogala P, Mortier GR, Baldock C, Wallace A, Elles R, Ala-Kokko L, Briggs MD. Jackson GC, et al. Among authors: makitie o. J Med Genet. 2004 Jan;41(1):52-9. doi: 10.1136/jmg.2003.011429. J Med Genet. 2004. PMID: 14729835 Free PMC article. No abstract available.
Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.
Polvi A, Linnankivi T, Kivelä T, Herva R, Keating JP, Mäkitie O, Pareyson D, Vainionpää L, Lahtinen J, Hovatta I, Pihko H, Lehesjoki AE. Polvi A, et al. Among authors: makitie o. Am J Hum Genet. 2012 Mar 9;90(3):540-9. doi: 10.1016/j.ajhg.2012.02.002. Epub 2012 Mar 1. Am J Hum Genet. 2012. PMID: 22387016 Free PMC article.
390 results