Resultados de búsqueda - Yuregir, Ozge Ozalp
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Detection of α-Thalassemia by Using Multiplex Ligation-Dependent Probe Amplification as an Additional Method for Rare Mutations in Southern Turkey por Yuregir, Ozge Ozalp, Ayaz, Akif, Yalcintepe, Sinem, Canbek, Sezin, Acik, Didar Yanardag, Yilmaz, Basak Taburoglu, Balci, Tugce B.
Publicado 2015Texto -
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A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1) por Small, Kent W., Van de Sompele, Stijn, Nuytemans, Karen, Vincent, Andrea, Yuregir, Ozge Ozalp, Ciloglu, Emine, Sariyildiz, Cahfer, Rosseel, Toon, Avetisjan, Jessica, Udar, Nitin, Vance, Jeffery M., Pericak-Vance, Margaret A., De Baere, Elfride, Shaya, Fadi S.
Publicado 2021Texto -
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Phenotypic Expansion Illuminates Multilocus Pathogenic Variation por Karaca, Ender, Posey, Jennifer E., Akdemir, Zeynep Coban, Pehlivan, Davut, Harel, Tamar, Jhangiani, Shalini N., Bayram, Yavuz, Song, Xiaofei, Bahrambeigi, Vahid, Yuregir, Ozge Ozalp, Bozdogan, Sevcan, Yesil, Gozde, Isikay, Sedat, Muzny, Donna, Gibbs, Richard A., Lupski, James R.
Publicado 2018Texto -
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Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes por Yuan, Bo, Pehlivan, Davut, Karaca, Ender, Patel, Nisha, Charng, Wu-Lin, Gambin, Tomasz, Gonzaga-Jauregui, Claudia, Sutton, V. Reid, Yesil, Gozde, Bozdogan, Sevcan Tug, Tos, Tulay, Koparir, Asuman, Koparir, Erkan, Beck, Christine R., Gu, Shen, Aslan, Huseyin, Yuregir, Ozge Ozalp, Al Rubeaan, Khalid, Alnaqeb, Dhekra, Alshammari, Muneera J., Bayram, Yavuz, Atik, Mehmed M., Aydin, Hatip, Geckinli, B. Bilge, Seven, Mehmet, Ulucan, Hakan, Fenercioglu, Elif, Ozen, Mustafa, Jhangiani, Shalini, Muzny, Donna M., Boerwinkle, Eric, Tuysuz, Beyhan, Alkuraya, Fowzan S., Gibbs, Richard A., Lupski, James R.
Publicado 2015Texto -
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Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis por Fenwick, Aimee L., Kliszczak, Maciej, Cooper, Fay, Murray, Jennie, Sanchez-Pulido, Luis, Twigg, Stephen R.F., Goriely, Anne, McGowan, Simon J., Miller, Kerry A., Taylor, Indira B., Logan, Clare, Bozdogan, Sevcan, Danda, Sumita, Dixon, Joanne, Elsayed, Solaf M., Elsobky, Ezzat, Gardham, Alice, Hoffer, Mariette J.V., Koopmans, Marije, McDonald-McGinn, Donna M., Santen, Gijs W.E., Savarirayan, Ravi, de Silva, Deepthi, Vanakker, Olivier, Wall, Steven A., Wilson, Louise C., Yuregir, Ozge Ozalp, Zackai, Elaine H., Ponting, Chris P., Jackson, Andrew P., Wilkie, Andrew O.M., Niedzwiedz, Wojciech, Bicknell, Louise S.
Publicado 2016Texto