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收藏ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy
Villar-Quiles, Rocio N.; Catervi, Fabio; Cabet, Eva; Juntas-Morales, Raul; Genetti, Casie A.; Gidaro, Teresa; Koparir, Asuman; Yuksel, Adnan; Coppens, Sandra; Deconinck, Nicolas; Pierce-Hoffman, Emma; Lornage, Xaviere; Durigneux, Julien; Laporte, Jocelyn; Rendu, John; Romero, Norma B.; Beggs, Alan H.; Servais, Laurent; Cossee, Mireille; Olive, Montse; Bohm, Johann; Duband-Goulet, Isabelle; Ferreiro, Ana
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收藏Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
Karaca, Ender; Harel, Tamar; Pehlivan, Davut; Jhangiani, Shalini N.; Gambin, Tomasz; Akdemir, Zeynep Coban; Gonzaga-Jauregui, Claudia; Erdin, Serkan; Bayram, Yavuz; Campbell, Ian M.; Hunter, Jill V.; Atik, Mehmed M.; Van Esch, Hilde; Yuan, Bo; Wiszniewski, Wojciech; Isikay, Sedat; Yesil, Gozde; Yuregir, Ozge O.; Bozdogan, Sevcan Tug; Aslan, Huseyin; Aydin, Hatip; Tos, Tulay; Aksoy, Ayse; De Vivo, Darryl C.; Jain, Preti; Geckinli, B. Bilge; Sezer, Ozlem; Gul, Davut; Durmaz, Burak; Cogulu, Ozgur; Ozkinay, Ferda; Topcu, Vehap; Candan, Sukru; Cebi, Alper Han; Ikbal, Mevlit; Gulec, Elif Yilmaz; Gezdirici, Alper; Koparir, Erkan; Ekici, Fatma; Coskun, Salih; Cicek, Salih; Karaer, Kadri; Koparir, Asuman; Duz, Mehmet Bugrahan; Kirat, Emre; Fenercioglu, Elif; Ulucan, Hakan; Seven, Mehmet; Guran, Tulay; Elcioglu, Nursel; Yildirim, Mahmut Selman; Aktas, Dilek; Alikasifoglu, Mehmet; Ture, Mehmet; Yakut, Tahsin; Overton, John D.; Yuksel, Adnan; Ozen, Mustafa; Muzny, Donna M.; Adams, David R.; Boerwinkle, Eric; Chung, Wendy K.; Gibbs, Richard A.; Lupski, James R.
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收藏Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis
Koparir, Asuman; Karatas, Omer F.; Yuceturk, Betul; Yuksel, Bayram; Bayrak, Ali O.; Gerdan, Omer F.; Sagiroglu, Mahmut S.; Gezdirici, Alper; Kirimtay, Koray; Selcuk, Ece; Karabay, Arzu; Creighton, Chad J.; Yuksel, Adnan; Ozen, Mustafa
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收藏Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy (vol 47, pg 73, 2015)
Simons, Cas; Rash, Lachlan D.; Crawford, Joanna; Ma, Linlin; Cristofori-Armstrong, Ben; Miller, David; Ru, Kelin; Baillie, Gregory J.; Alanay, Yasemin; Jacquinet, Adeline; Debray, Franois-Guillaume; Verloes, Alain; Shen, Joseph; Yesil, Goezde; Guler, Serhat; Yuksel, Adnan; Cleary, John G.; Grimmond, Sean M.; McGaughran, Julie; King, Glenn F.; Gabbett, Michael T.; Taft, Ryan J.
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收藏Mutational screening of BASP1 and transcribed processed pseudogene TPΨg-BASP1 in patients with Mobius syndromeMobius综合征患者BASP1的突变筛查和转录处理的假基因TPΨg-BASP1
Uzumcu, Abdullah; Candan, Sukru; Toksoy, Guven; Uyguner, Z. Oya; Karaman, Birsen; Eris, Hacer; Tatli, Burak; Kayserili, Hulya; Yuksel, Adnan; Geckinli, Bilge; Yuksel-Apak, Memnune; Basaran, Sehar
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收藏CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
Brancati, Francesco; Barrano, Giuseppe; Silhavy, Jennifer L.; Marsh, Sarah E.; Travaglini, Lorena; Bielas, Stephanie L.; Amorini, Maria; Zablocka, Dominika; Kayserili, Hulya; Al-Gazali, Lihadh; Bertini, Enrico; Boltshauser, Eugen; D'Hooghe, Marc; Fazzi, Elisa; Fenerci, Elif Y.; Hennekam, Raoul C. M.; Kiss, Andrea; Lees, Melissa M.; Marco, Elysa; Phadke, Shubha R.; Rigoli, Luciana; Romano, Stephane; Salpietro, Carmelo D.; Sherr, Elliott H.; Signorini, Sabrina; Stromme, Petter; Stuart, Bernard; Sztriha, Laszlo; Viskochil, David H.; Yuksel, Adnan; Dallapiccola, Bruno; Valente, Enza Maria; Gleeson, Joseph G.
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