OpenURL Connection Search

Select item for more details and to access through your institution.

Target concentration dependence of DNA melting temperature on oligonucleotide microarrays.
Published in:
Biotechnology Progress, 2012, v. 28, n. 2, p. 556, doi. 10.1002/btpr.1505
By:
- Ozel, Ayse Bilge;
- Srivannavit, Onnop;
- Rouillard, Jean-Marie;
- Gulari, and Erdogan
Publication type:
Article
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
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Published in:
Human Genetics, 2018, v. 137, n. 11/12, p. 921, doi. 10.1007/s00439-018-1957-1
By:
- Lessel, Davor;
- Ozel, Ayse Bilge;
- Campbell, Susan E.;
- Saadi, Abdelkrim;
- Arlt, Martin F.;
- McSweeney, Keisha Melodi;
- Plaiasu, Vasilica;
- Szakszon, Katalin;
- Szőllős, Anna;
- Rusu, Cristina;
- Rojas, Armando J.;
- Lopez-Valdez, Jaime;
- Thiele, Holger;
- Nürnberg, Peter;
- Nickerson, Deborah A.;
- Bamshad, Michael J.;
- Li, Jun Z.;
- Kubisch, Christian;
- Glover, Thomas W.;
- Gordon, Leslie B.
Publication type:
Article
The phenotypic spectrum associated with OTX2 mutations in humans.
Published in:
European Journal of Endocrinology, 2021, v. 185, n. 1, p. 121, doi. 10.1530/EJE-20-1453
By:
- Gregory, Louise C.;
- Gergics, Peter;
- Nakaguma, Marilena;
- Hironori Bando;
- Patti, Giuseppa;
- McCabe, Mark J.;
- Qing Fang;
- Qianyi Ma;
- Ozel, Ayse Bilge;
- Li, Jun Z.;
- Poina, Michele Moreira;
- Jorge, Alexander A. L.;
- Figueredo Benedetti, Anna F.;
- Lerario, Antonio M.;
- Arnhold, Ivo J. P.;
- Mendonca, Berenice B.;
- Maghnie, Mohamad;
- Camper, Sally A.;
- Carvalho, Luciani R. S.;
- Dattani, Mehul T.
Publication type:
Article
Extended regions of suspected mis-assembly in the rat reference genome.
Published in:
Scientific Data, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41597-019-0041-6
By:
- Ramdas, Shweta;
- Ozel, Ayse Bilge;
- Treutelaar, Mary K.;
- Holl, Katie;
- Mandel, Myrna;
- Woods, Leah C. Solberg;
- Li, Jun Z.
Publication type:
Article
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Published in:
2018
By:
- Seong, Eunju;
- Insolera, Ryan;
- Dulovic, Marija;
- Kamsteeg, Erik‐Jan;
- Trinh, Joanne;
- Brüggemann, Norbert;
- Sandford, Erin;
- Li, Sheng;
- Ozel, Ayse Bilge;
- Li, Jun Z.;
- Jewett, Tamison;
- Kievit, Anneke J. A.;
- Münchau, Alexander;
- Shakkottai, Vikram;
- Klein, Christine;
- Collins, Catherine A.;
- Lohmann, Katja;
- van de Warrenburg, Bart P.;
- Burmeister, Margit;
- Kamsteeg, Erik-Jan
Publication type:
journal article
Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.
Published in:
Genes, 2021, v. 12, n. 8, p. 1128, doi. 10.3390/genes12081128
By:
- Nakaguma, Marilena;
- Ferreira, Nathalia Garcia Bianchi Pereira;
- Benedetti, Anna Flavia Figueredo;
- Madi, Mariana Cotarelli;
- Silva, Juliana Moreira;
- Li, Jun Z.;
- Ma, Qianyi;
- Bilge Ozel, Ayse;
- Fang, Qing;
- Narcizo, Amanda de Moraes;
- Cardoso, Laís Cavalca;
- Montenegro, Luciana Ribeiro;
- Funari, Mariana Ferreira de Assis;
- Nishi, Mirian Yumie;
- Arnhold, Ivo Jorge Prado;
- Jorge, Alexander Augusto de Lima;
- Mendonca, Berenice Bilharinho de;
- Camper, Sally Ann;
- Carvalho, Luciani R.
Publication type:
Article

Found: 7

Target concentration dependence of DNA melting temperature on oligonucleotide microarrays.

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.

The phenotypic spectrum associated with OTX2 mutations in humans.

Extended regions of suspected mis-assembly in the rat reference genome.

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.

Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.