未登录 Diagnostic Utility of Next-Generation Sequencing-based CNV Analysis in Eleven Patients with Peters-Plus Syndrome: A Single-Center Experience 基于下一代测序的CNV分析在11例Peters-plus综合征患者中的诊断价值：一项单中心研究 Akalin, Akcahan; Durmusalioglu, Enise Avci; Ozalkak, Servan; Yildirim, Ruken; Oz, Veysel; Unal, Edip; Hazar, Leyla; Tan, Turkan Turkut; Dogan, Yusuf Can; Atik, Tahir; Cogulu, Ozgur; Isik, Esra 分享 收藏
Transition from assigned sex at birth to individual gender identity in cases of differences of sex development 从出生时指定的性别向性发育差异案例中的个体性别认同的转变 Jalilova, Arzu; Ozen, Samim; Ozalp, Deniz Kizilay; Tas, Begum Yulug; Solmaz, Asli Ece; Balki, Hanife Gul; Tekin, Ali; Arslan, Emrullah; Atik, Tahir; Gulpinar, Kubra; Cogulu, Ozgur; Kocabas, Gokce Unal; Ozbaran, Burcu; Onay, Huseyin; Ulman, Ibrahim; Ozkinay, Ferda; Saygili, Fusun; Goksen, Damla; Darcan, Sukran 分享 收藏
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Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis (vol 24, pg 2187, 2022) Boschann, Felix; Cogulu, Ozgur; Pehlivan, Davut; Balachandran, Saranya; Vallecillo-Garcia, Pedro; Grochowski, Christopher M.; Hansmeier, Nils R.; Akdemir, Zeynep H. Coban; Prada-Medina, Cesar A.; Aykut, Ayca; Fischer-Zirnsak, Bjoern; Badura, Simon; Durmaz, Burak; Ozkinay, Ferda; Haegerling, Rene; Posey, Jennifer E.; Stricker, Sigmar; Gillessen-Kaesbach, Gabriele; Spielmann, Malte; Horn, Denise; Brockmann, Knut; Lupski, James R.; Kornak, Uwe; Schmidt, Julia 分享 收藏
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis Boschann, Felix; Cogulu, Muhsin O.; Pehlivan, Davut; Balachandran, Saranya; Vallecillo-Garcia, Pedro; Grochowski, Christopher M.; Hansmeier, Nils R.; Akdemir, Zeynep H. Coban; Prada-Medina, Cesar A.; Aykut, Ayca; Fischer-Zirnsak, Bjorn; Badura, Simon; Durmaz, Burak; Ozkinay, Ferda; Haegerling, Rene; Posey, Jennifer E.; Stricker, Sigmar; Gillessen-Kaesbach, Gabriele; Spielmann, Malte; Horn, Denise; Brockmann, Knut; Lupski, James R.; Kornak, Uwe; Schmidt, Julia 分享 收藏
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Human immune disorder associated with homozygous hypomorphic mutation affecting MALT1B splice variant Kutukculer, Necil; Seeholzer, Thomas; O'Neill, Thomas J.; Grass, Carina; Aykut, Ayca; Karaca, Neslihan Edeer; Durmaz, Asude; Cogulu, Ozgur; Aksu, Guzide; Gehring, Torben; Gewies, Andreas; Krappmann, Daniel 分享 收藏
The effects of IGF-1 and erythropoietin on apoptosis and telomerase activity in necrotizing enterocolitis model Akisu, Mete; Durmaz, Burak; Koroglu, Ozge Altun; Unlubay, Sema; Yalaz, Mehmet; Akin, Haluk; Ates, Utku; Baka, Meral; Ozkinay, Ferda; Cogulu, Ozgur; Kultursay, Nilgun 分享 收藏
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Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency 人类PTEN缺乏症中PI3K/Akt活性增加和体液免疫反应失调 Driessen, Gertjan J.; IJspeert, Hanna; Wentink, Marjolein; Yntema, Helger G.; van Hagen, P. Martin; van Strien, Arthur; Bucciol, Giorgia; Cogulu, Ozgur; Trip, Margreet; Nillesen, Willy; Peeters, Els A.; Pico-Knijnenburg, Ingrid; Barendregt, Barbara H.; Rizzi, Marta; van Dongen, Jacques J.; Kutukculer, Necil; van der Burg, Mirjam 分享 收藏
Evaluation of the miRNA profiling and effectiveness of the propolis on B-cell acute lymphoblastic leukemia cell line Yilmaz, Ugur Cem; Bagca, Bakiye Goker; Karaca, Emin; Durmaz, Asude; Durmaz, Burak; Aykut, Ayca; Kayalar, Husniye; Ayci, Cigir Biray; Susluer, Sunde Yilmaz; Gunduz, Cumhur; Cogulu, Ozgur 分享 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. 分享 收藏
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The missing link: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation Schreml, Julia; Durmaz, Burak; Cogulu, Ozgur; Keupp, Katharina; Beleggia, Filippo; Pohl, Esther; Milz, Esther; Coker, Mahmut; Ucar, Sema Kalkan; Nuernberg, Gudrun; Nuernberg, Peter; Kuhn, Joachim; Ozkinay, Ferda 分享 收藏
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling Wieczorek, Dagmar; Boegershausen, Nina; Beleggia, Filippo; Steiner-Haldenstaett, Sabine; Pohl, Esther; Li, Yun; Milz, Esther; Martin, Marcel; Thiele, Holger; Altmueller, Janine; Alanay, Yasemin; Kayserili, Hulya; Klein-Hitpass, Ludger; Bohringer, Stefan; Wollstein, Andreas; Albrecht, Beate; Boduroglu, Koray; Caliebe, Almuth; Chrzanowska, Krystyna; Cogulu, Ozgur; Cristofoli, Francesca; Czeschik, Johanna Christina; Devriendt, Koenraad; Dotti, Maria Teresa; Elcioglu, Nursel; Gener, Blanca; Goecke, Timm O.; Krajewska-Walasek, Malgorzata; Guillen-Navarro, Encarnacion; Hayek, Joussef; Houge, Gunnar; Kilic, Esra; Simsek-Kiper, Pelin Ozlem; Lopez-Gonzalez, Vanesa; Kuechler, Alma; Lyonnet, Stanislas; Mari, Francesca; Marozza, Annabella; Dramard, Michele Mathieu; Mikat, Barbara; Morin, Gilles; Morice-Picard, Fanny; Ozkinay, Ferda; Rauch, Anita; Renieri, Alessandra; Tinschert, Sigrid; Utine, G. Eda; Vilain, Catheline; Vivarelli, Rossella; Zweier, Christiane; Nuernberg, Peter; Rahmann, Sven; Vermeesch, Joris; Luedecke, Hermann-Josef; Zeschnigk, Michael; Wollnik, Bernd 分享 收藏
The genotoxic effect of radiofrequency waves on mouse brain (vol 106, pg 53, 2012) Karaca, Emin; Durmaz, Burak; Aktug, Huseyin; Yildiz, Teoman; Guducu, Candan; Irgi, Melis; Koksal, Mehtap Gulcihan Cinar; Ozkinay, Ferda; Gunduz, Cumhur; Cogulu, Ozgur 分享 收藏
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