未登录Hypertrophic cardiomyopathy as a novel phenotypic feature of NSUN3-related mitochondrial disease: a case report with review of the literature肥厚型心肌病作为NSUN3相关线粒体疾病的新的表型特征：一篇结合文献综述的病例报告
Senol Ersak, Ayse; Cagiran, Tugce; Kocyigit, Aysen; Ciki, Kismet; Yildiz, Yilmaz; Aypar, Ebru; Ketenci Islek, Serap; Simsek Kiper, Pelin Ozlem; Haliloglu, Goknur; Dursun, Ali .png)
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收藏分享 收藏 Glutathione synthetase deficiency: severe hemolysis and metabolic acidosis with symptoms in the intrauterine period谷胱甘肽合成酶缺乏症：严重溶血和代谢性酸中毒，伴宫内期症状Demirsu, Aysegul; Aliyev, Ferid; Yucel, Elif; Ciki, Kismet; Yildiz, Yilmaz; Urel-Demir, Gizem; Simsek-Kiper, Pelin Ozlem; Bozat, Ali Dinc; Aykan, Hakan; Oncel, Ibrahim Halil; Fadiloglu, Erdem; Yigit, Sule 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey25例被诊断为3 m综合征的患者的临床和分子谱以及基因型-表型相关性: 来自土耳其的一项研究Akalin, Akcahan; Ozalkak, Servan; Yildirim, Ruken; Karakaya, Amine Aktar; Kolbasi, Baris; Durmusalioglu, Enise Avci; Kokali, Funda; Urel-Demir, Gizem; Oz, Veysel; Unal, Edip; Atik, Tahir; Simsek-Kiper, Pelin Ozlem; Elcioglu, Nursel H. 分享 收藏 Etiology of Primary Spontaneous pneumothorax in Children and AdolescentsTural, Dilber Ademhan; Ozsezen, Beste; Kiper, Pelin Ozlem Simsek; Taskiran, Ekim; Buyuksahin, Halime Nayir; Guzelkas, Ismail; Sunman, Birce; Karaosmanoglu, Beren; Imren, Gozde; Soyer, Tutku; Utine, Gulen Eda; Emiralioglu, Nagehan; Yalcin, Ebru; Dogru, Deniz; Kiper, Nural; Ozcelik, Ugur 分享 收藏 分享 收藏 分享 收藏 Evaluation of polysomnography findings in children with genetic skeletal disordersBuyuksahin, Halime Nayir; Emiralioglu, Nagehan; Kiper, Pelin Ozlem Simsek; Sunman, Birce; Guzelkas, Ismail; Alboga, Didem; Erdal, Meltem Akgul; Boduroglu, Koray; Utine, Gulen Eda; Yalcin, Ebru; Dogru, Deniz; Kiper, Nural; Ozcelik, Ugur 分享 收藏 Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related DisordersBatkovskyte, Dominyka; McKenzie, Fiona; Taylan, Fulya; Simsek-Kiper, Pelin Ozlem; Nikkel, Sarah M.; Ohashi, Hirofumi; Stevenson, Roger E.; Ha, Thuong; Cavalcanti, Denise P.; Miyahara, Hiroyuki; Skinner, Steven A.; Aguirre, Miguel A.; Akcoeren, Zuehal; Utine, Gulen Eda; Chiu, Tillie; Shimizu, Kenji; Hammarsjoe, Anna; Boduroglu, Koray; Moore, Hannah W.; Louie, Raymond J.; Arts, Peer; Merrihew, Allie N.; Babic, Milena; Jackson, Matilda R.; Papadogiannakis, Nikos; Lindstrand, Anna; Nordgren, Ann; Barnett, Christopher P.; Scott, Hamish S.; Chagin, Andrei S.; Nishimura, Gen; Grigelioniene, Giedre 分享 收藏 Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3Simsek-Kiper, Pelin Ozlem; Jacob, Prince; Upadhyai, Priyanka; Taskiran, Zihni Ekim; Guleria, Vishal S.; Karaosmanoglu, Beren; Imren, Gozde; Gocmen, Rahsan; Bhavani, Gandham S.; Kausthubham, Neethukrishna; Shah, Hitesh; Utine, Gulen Eda; Boduroglu, Koray; Girisha, Katta M. 分享 收藏 SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotypeMotta, Marialetizia; Fasano, Giulia; Gredy, Sina; Brinkmann, Julia; Bonnard, Adeline Alice; Simsek-Kiper, Pelin Ozlem; Gulec, Elif Yilmaz; Essaddam, Leila; Utine, Gulen Eda; Prandi, Ingrid Guarnetti; Venditti, Martina; Pantaleoni, Francesca; Radio, Francesca Clementina; Ciolfi, Andrea; Petrini, Stefania; Consoli, Federica; Vignal, Cedric; Hepbasli, Denis; Ullrich, Melanie; de Boer, Elke; Vissers, Lisenka E. L. M.; Gritli, Sami; Rossi, Cesare; De Luca, Alessandro; Ben Becher, Saayda; Gelb, Bruce D.; Dallapiccola, Bruno; Lauri, Antonella; Chillemi, Giovanni; Schuh, Kai; Cave, Helene; Zenker, Martin; Tartaglia, Marco 分享 收藏 Sleep disordered breathing in patients with Prader willi syndrome: Impact of underlying genetic mechanismOzsezen, Beste; Emiralioglu, Nagehan; Ozon, Alev; Akin, Onur; Tural, Dilber Ademhan; Sunman, Birce; Hejiyeva, Aysel; Hizal, Mina; Alikasifoglu, Ayfer; Kiper, Pelin Ozlem Simsek; Boduroglu, Koray; Utine, Gulen Eda; Yalcin, Ebru; Dogru, Deniz; Kiper, Nural; Ozcelik, Ugur 分享 收藏 Obstructive sleep apnea in children with Down syndrome: is it possible to predict severe apnea?唐氏综合症患儿的阻塞性睡眠呼吸暂停: 有可能预测严重呼吸暂停吗？Hizal, Mina; Satirer, Ozlem; Polat, Sanem Eryilmaz; Tural, Dilber Ademhan; Ozsezen, Beste; Sunman, Birce; Karahan, Sevilay; Emiralioglu, Nagehan; Simsek-Kiper, Pelin Ozlem; Utine, Gulen Eda; Boduroglu, Koray; Yalcin, Ebru; Dogru, Deniz; Kiper, Nural; Ozcelik, Ugur 分享 收藏 Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathyWong, Hui Hui; Seet, Sze Hwee; Maier, Michael; Gurel, Ayse; Traspas, Ricardo Moreno; Lee, Cheryl; Zhang, Shan; Talim, Beril; Loh, Abigail Y. T.; Chia, Crystal Y.; Teoh, Tze Shin; Sng, Danielle; Rensvold, Jarred; Unal, Sule; Shishkova, Evgenia; Cepni, Ece; Nathan, Fatima M.; Sirota, Fernanda L.; Liang, Chao; Yarali, Nese; Simsek-Kiper, Pelin O.; Mitani, Tadahiro; Ceylaner, Serdar; Arman-Bilir, Ozlem; Mbarek, Hamdi; Gumruk, Fatma; Efthymiou, Stephanie; Cimen, Deniz Ugurlu; Georgiadou, Danai; Sotiropoulou, Kortessa; Houlden, Henry; Paul, Franziska; Pehlivan, Davut; Laine, Candice; Chai, Guoliang; Ali, Nur Ain; Choo, Siew Chin; Keng, Soh Sok; Boisson, Bertrand; Yilmaz, Elanur; Xue, Shifeng; Coon, Joshua J.; Ly, Thanh Thao Nguyen; Gilani, Naser; Hasbini, Dana; Kayserili, Hulya; Zaki, Maha S.; Isfort, Robert J.; Ordonez, Natalia; Tripolszki, Kornelia; Bauer, Peter; Rezaei, Nima; Seyedpour, Simin; Khotaei, Ghamar Taj; Bascom, Charles C.; Maroofian, Reza; Chaabouni, Myriam; Alsubhi, Afaf; Eyaid, Wafaa; Isikay, Sedat; Gleeson, Joseph G.; Lupski, James R.; Casanova, Jean-Laurent; Pagliarini, David J.; Akarsu, Nurten A.; Maurer-Stroh, Sebastian; Cetinkaya, Arda; Bertoli-Avella, Aida; Mathuru, Ajay S.; Ho, Lena; Bard, Frederic A.; Reversade, Bruno 分享 收藏 
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