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Evaluation of polysomnography findings in children with genetic skeletal disorders Buyuksahin, 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 Disorders Batkovskyte, 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 disorders Buyuksahin, 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 3 Simsek-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
Sleep disordered breathing in patients with Prader willi syndrome: Impact of underlying genetic mechanism Ozsezen, 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
Genetic IGF1R defects: new cases expand the spectrum of clinical features Gonc, E. N.; Ozon, Z. A.; Oguz, S.; Kabacam, S.; Taskiran, E. Z.; Kiper, P. O. S.; Utine, G. E.; Alikasifoglu, A.; Kandemir, N.; Boduroglu, O. K.; Alikasifoglu, M. 分享 收藏
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Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa (vol 99, pg 236, 2016) Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Hohne, Wolfgang; Cuccuru, Gianmauro; Fotia, Giorgio; Deiana, Manila; Marongiu, Mara; Atalay, Hatice Tuba; Inan, Sibel; El Assy, Osama; Smit, Leo M. E.; Okur, Ilyas; Boduroglu, Koray; Utine, Gulen Eda; Kilic, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank 分享 收藏
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2 Boegershausen, Nina; Gatinois, Vincent; Riehmer, Vera; Kayserili, Huelya; Becker, Jutta; Thoenes, Michaela; Simsek-Kiper, Pelin OEzlem; Barat-Houari, Mouna; Elcioglu, Nursel H.; Wieczorek, Dagmar; Tinschert, Sigrid; Sarrabay, Guillaume; Strom, Tim M.; Fabre, Aurelie; Baynam, Gareth; Sanchez, Elodie; Nuernberg, Gudrun; Altunoglu, Umut; Capri, Yline; Isidor, Bertrand; Lacombe, Didier; Corsini, Carole; Cormier-Daire, Valerie; Sanlaville, Damien; Giuliano, Fabienne; Le Quan Sang, Kim-Hanh; Kayirangwa, Honorine; Nuernberg, Peter; Meitinger, Thomas; Boduroglu, Koray; Zoll, Barbara; Lyonnet, Stanislas; Tzschach, Andreas; Verloes, Alain; Di Donato, Nataliya; Touitou, Isabelle; Netzer, Christian; Li, Yun; Genevieve, David; Yigit, Goekhan; Wollnik, Bernd 分享 收藏
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Hoehne, Wolfgang; Cuccuru, Gianmauro; Fotia, Giorgio; Deiana, Manila; Marongiu, Mara; Atalay, Hatice Tuba; Inan, Sibel; El Assy, Osama; Smit, Leo M. E.; Okur, Ilyas; Boduroglu, Koray; Utine, Gulen Eda; Kilic, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank 分享 收藏
Cortical-Bone Fragility - Insights from sFRP4 Deficiency in Pyle's Disease Kiper, Pelin O. Simsek; Saito, Hiroaki; Gori, Francesca; Unger, Sheila; Hesse, Eric; Yamana, Kei; Kiviranta, Riku; Solban, Nicolas; Liu, Jeff; Brommage, Robert; Boduroglu, Koray; Bonafe, Luisa; Campos-Xavier, Belinda; Dikoglu, Esra; Eastell, Richard; Gossiel, Fatma; Harshman, Keith; Nishimura, Gen; Girisha, Katta M.; Stevenson, Brian J.; Takita, Hiroyuki; Rivolta, Carlo; Superti-Furga, Andrea; Baron, Roland 分享 收藏
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome Boegershausen, Nina; Tsai, I-Chun; Pohl, Esther; Kiper, Pelin Ozlem Simsek; Beleggia, Filippo; Percin, E. Ferda; Keupp, Katharina; Matchan, Angela; Milz, Esther; Alanay, Yasemin; Kayserili, Hulya; Liu, Yicheng; Banka, Siddharth; Kranz, Andrea; Zenker, Martin; Wieczorek, Dagmar; Elcioglu, Nursel; Prontera, Paolo; Lyonnet, Stanislas; Meitinger, Thomas; Stewart, A. Francis; Donnai, Dian; Strom, Tim M.; Boduroglu, Koray; Yigit, Goekhan; Li, Yun; Katsanis, Nicholas; Wollnik, Bernd 分享 收藏
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes Bramswig, Nuria C.; Luedecke, Hermann-Josef; Alanay, Yasemin; Albrecht, Beate; Barthelmie, Alexander; Boduroglu, Koray; Braunholz, Diana; Caliebe, Almuth; Chrzanowska, Krystyna H.; Czeschik, Johanna Christina; Endele, Sabine; Graf, Elisabeth; Guillen-Navarro, Encarna; Kiper, Pelin Ozlem Simsek; Lopez-Gonzalez, Vanesa; Parenti, Ilaria; Pozojevic, Jelena; Utine, Gulen Eda; Wieland, Thomas; Kaiser, Frank J.; Wollnik, Bernd; Strom, Tim M.; Wieczorek, Dagmar 分享 收藏
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Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features Arman, Ahmet; Bereket, Abdullah; Coker, Ajda; Kiper, Pelin Ozlem Simsek; Guran, Tulay; Ozkan, Behzat; Atay, Zeynep; Akcay, Teoman; Haliloglu, Belma; Boduroglu, Koray; Alanay, Yasemin; Turan, Serap 分享 收藏
Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome Piras, Roberta; Chiappe, Francesca; La Torraca, Ilaria; Buers, Insa; Usala, Gianluca; Angius, Andrea; Akin, Mustafa Ali; Basel-Vanagaite, Lina; Benedicenti, Francesco; Chiodin, Elisabetta; El Assy, Osama; Feingold-Zadok, Michal; Guibert, Javier; Kamien, Benjamin; Kasapkara, Cigdem Seher; Kilic, Esra; Boduroglu, Koray; Kurtoglu, Selim; Manzur, Adnan Y.; Onal, Eray Esra; Paderi, Enrica; Herrero Roche, Carmen; Tumer, Leyla; Unal, Sezin; Utine, Guelen Eda; Zanda, Giovanni; Zankl, Andreas; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank 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
Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations Iida, Aritoshi; Simsek-Kiper, Pelin Ozlem; Mizumoto, Shuji; Hoshino, Touma; Elcioglu, Nursel; Horemuzova, Eva; Geiberger, Stefan; Yesil, Gozde; Kayserili, Hulya; Utine, Gulen Eda; Boduroglu, Koray; Watanabe, Shigehiko; Ohashi, Hirofumi; Alanay, Yasemin; Sugahara, Kazuyuki; Nishimura, Gen; Ikegawa, Shiro 分享 收藏
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