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收藏分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Etiology of Primary Spontaneous pneumothorax in Children and Adolescents
Tural, 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 Evaluation of polysomnography findings in children with genetic skeletal disordersBuyuksahin, H. Nayir; Emiralioglu, N.; Kiper, P. O. Simsek; Sunman, B.; Guzelkas, I.; Alboga, D.; Erdal, M. Akgul; Boduroglu, K.; Utine, G. E.; Yalcin, E.; Dogru, D.; Kiper, N.; Ozcelik, U. 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 More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndromeDhooge, Tibbe; Van Damme, Tim; Syx, Delfien; Mosquera, Laura M.; Nampoothiri, Sheela; Radhakrishnan, Anil; Simsek-Kiper, Pelin O.; Utine, Gulen E.; Bonduelle, Maryse; Migeotte, Isabelle; Essawi, Osama; Ceylaner, Serdar; Al Kindy, Adila; Tinkle, Brad; Symoens, Sofie; Malfait, Fransiska 分享 收藏 The clinical significance ofA2ML1variants in Noonan syndrome has to be reconsideredBrinkmann, Julia; Lissewski, Christina; Pinna, Valentina; Vial, Yoann; Pantaleoni, Francesca; Lepri, Francesca; Daniele, Paola; Burnyte, Birute; Cuturilo, Goran; Fauth, Christine; Gezdirici, Alper; Kotzot, Dieter; Gulec, Elif Yilmaz; Iotova, Violeta; Schanze, Denny; Ramond, Francis; Havlovicova, Marketa; Utine, Gulen Eda; Simsek-Kiper, Pelin Ozlem; Stoyanova, Milena; Verloes, Alain; De Luca, Alessandro; Tartaglia, Marco; Cave, Helene; Zenker, Martin 分享 收藏 Novel insights into diabetes mellitus due toDNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age groupOzon, Z. Alev; Alikasifoglu, Ayfer; Kandemir, Nurgun; Aydin, Busra; Gonc, E. Nazli; Karaosmanoglu, Beren; Celik, Nur Berna; Eroglu-Ertugrul, Nesibe G.; Taskiran, Ekim Z.; Haliloglu, Goknur; Oguz, Kader Karli; Kiper, Pelin Ozlem; Yalnizoglu, Dilek; Utine, Gulen Eda; Alikasifoglu, Mehmet 分享 收藏 Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa (vol 100, pg 216, 2017)Van Damme, Tim; Gardeitchik, Thatjana; Mohamed, Miski; Guerrero-Castillo, Sergio; Freisinger, Peter; Guillemyn, Brecht; Kariminejad, Ariana; Dalloyaux, Daisy; van Kraaij, Sanne; Lefeber, Dirk J.; Syx, Delfien; Steyaert, Wouter; De Rycke, Riet; Hoischen, Alexander; Kamsteeg, Erik-Jan; Wong, Sunnie Y.; van Scherpenzeel, Monique; Jamali, Payman; Brandt, Ulrich; Nijtmans, Leo; Korenke, G. Christoph; Chung, Brian H. Y.; Mak, Christopher C. Y.; Hausser, Ingrid; Kornak, Uwe; Fischer-Zirnsak, Bjorn; Strom, Tim M.; Meitinger, Thomas; Alanay, Yasemin; Utine, Gulen E.; Leung, Kai Ching Peter; Ghaderi-Sohi, Siavash; Coucke, Paul; Symoens, Sofie; De Paepe, Anne; Thiel, Christian; Haack, Tobias B.; Malfait, Fransiska; Morava, Eva; Callewaert, Bert; Wevers, Ron A. 分享 收藏 
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