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Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.
Published in:
PLoS Genetics, 2019, v. 15, n. 5, p. 1, doi. 10.1371/journal.pgen.1008130
By:
- Garnai, Sarah J.;
- Brinkmeier, Michelle L.;
- Emery, Ben;
- Aleman, Tomas S.;
- Pyle, Louise C.;
- Veleva-Rotse, Biliana;
- Sisk, Robert A.;
- Rozsa, Frank W.;
- Ozel, Ayse Bilge;
- Li, Jun Z.;
- Moroi, Sayoko E.;
- Archer, Steven M.;
- Lin, Cheng-mao;
- Sheskey, Sarah;
- Wiinikka-Buesser, Laurel;
- Eadie, James;
- Urquhart, Jill E.;
- Black, Graeme C.M.;
- Othman, Mohammad I.;
- Boehnke, Michael
Publication type:
Article
Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-76725-8
By:
- Prasov, Lev;
- Guan, Bin;
- Ullah, Ehsan;
- Archer, Steven M.;
- Ayres, Bernadete M.;
- Besirli, Cagri G.;
- Wiinikka-Buesser, Laurel;
- Comer, Grant M.;
- Del Monte, Monte A.;
- Elner, Susan G.;
- Garnai, Sarah J.;
- Huryn, Laryssa A.;
- Johnson, Kayla;
- Kamat, Shivani S.;
- Lieu, Philip;
- Mian, Shahzad I.;
- Rygiel, Christine A.;
- Serpen, Jasmine Y.;
- Pawar, Hemant S.;
- Brooks, Brian P.
Publication type:
Article