Recurrent fractures and an unusual diagnosis: Pycnodysostosis von Gurbanov, Anar, Kiper, Pelin Özlem Şimşek, Tekşam, Özlem

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Spondyloepimetaphyseal dysplasia EXTL3‐deficient type: Long‐term follow‐up and review of the literature von Akalın, Akçahan, Taskiran, Ekim Z., Şimşek‐Kiper, Pelin Özlem, Utine, Eda, Alanay, Yasemin, Özçelik, Uğur, Boduroğlu, Koray

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Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings von Soyer, Tutku, Karaosmanoglu, Beren, Taskiran, Ekim Z., Kiper, Pelin Özlem Şimşek, Karnak, İbrahim, Boduroğlu, Koray, Utine, Gülen Eda

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Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome von Dasar, Tugba, Gonen, Hasibe Nesligul, Kosemehmetoglu, Kemal, Teksam, Ozlem, Boduroglu, Koray, Utine, Gulen Eda, Kiper, Pelin Ozlem Simsek

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Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum von Güleray, Naz, Koşukcu, Can, Oğuz, Sümeyra, Ürel Demir, Gizem, Taşkıran, Ekim Z., Kiper, Pelin Özlem Şimşek, Utine, Gülen Eda, Alanay, Yasemin, Boduroğlu, Koray, Alikaşifoğlu, Mehmet

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Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case report von Şahin, Ezgi Aysu, Taşkıran, Ekim Zihni, Kiper, Pelin Özlem Şimşek, Aydın, Burça, Utine, Eda

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A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome von Doğan, Özlem Akgün, Şimşek Kiper, Pelin Özlem, Utine, Gülen Eda, Alikaşifoğlu, Mehmet, Boduroğlu, Koray

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The rare reason of pain in hip girdle: Mucolipidosis type 3 gamma von Kolkiran, Abdulkerim, Karaosmanoglu, Beren, Taskiran, Zihni Ekim, Simsek-Kiper, Pelin Ozlem, Utine, Gulen Eda

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Peters Plus syndrome: a recognizable clinical entity von Demir, Gizem Urel, Lafci, Naz Guleray, Dogan, Ozlem Akgun, Kiper, Pelin Ozlem Simsek, Utine, Gulen Eda

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Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias von Le Goff, Carine, Mahaut, Clémentine, Wang, Lauren W., Allali, Slimane, Abhyankar, Avinash, Jensen, Sacha, Zylberberg, Louise, Collod-Beroud, Gwenaelle, Bonnet, Damien, Alanay, Yasemin, Brady, Angela F., Cordier, Marie-Pierre, Devriendt, Koen, Genevieve, David, Kiper, Pelin Özlem Simsek, Kitoh, Hiroshi, Krakow, Deborah, Lynch, Sally Ann, Le Merrer, Martine, Mégarbane, André, Mortier, Geert, Odent, Sylvie, Polak, Michel, Rohrbach, Marianne, Sillence, David, Stolte-Dijkstra, Irene, Superti-Furga, Andrea, Rimoin, David L., Topouchian, Vicken, Unger, Sheila, Zabel, Bernhard, Bole-Feysot, Christine, Nitschke, Patrick, Handford, Penny, Casanova, Jean-Laurent, Boileau, Catherine, Apte, Suneel S., Munnich, Arnold, Cormier-Daire, Valérie

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Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features von Kındış, Erdem, Simsek‐Kiper, Pelin Özlem, Koşukcu, Can, Taşkıran, Ekim Z., Göçmen, Rahşan, Utine, Eda, Haliloğlu, Göknur, Boduroğlu, Koray, Alikaşifoğlu, Mehmet

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Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features von Arman, Ahmet, Bereket, Abdullah, Coker, Ajda, Kiper, Pelin Özlem Simşek, Güran, Tülay, Ozkan, Behzat, Atay, Zeynep, Akçay, Teoman, Haliloglu, Belma, Boduroglu, Koray, Alanay, Yasemin, Turan, Serap

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Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2 von Bögershausen, Nina, Gatinois, Vincent, Riehmer, Vera, Kayserili, Hülya, Becker, Jutta, Thoenes, Michaela, Simsek-Kiper, Pelin Özlem, Barat-Houari, Mouna, Elcioglu, Nursel H., Wieczorek, Dagmar, Tinschert, Sigrid, Sarrabay, Guillaume, Strom, Tim M., Fabre, Aurélie, Baynam, Gareth, Sanchez, Elodie, Nürnberg, Gudrun, Altunoglu, Umut, Capri, Yline, Isidor, Bertrand, Lacombe, Didier, Corsini, Carole, Cormier-Daire, Valérie, Sanlaville, Damien, Giuliano, Fabienne, Le Quan Sang, Kim-Hanh, Kayirangwa, Honorine, Nürnberg, Peter, Meitinger, Thomas, Boduroglu, Koray, Zoll, Barbara, Lyonnet, Stanislas, Tzschach, Andreas, Verloes, Alain, Di Donato, Nataliya, Touitou, Isabelle, Netzer, Christian, Li, Yun, Geneviève, David, Yigit, Gökhan, Wollnik, Bernd

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Catel–Manzke syndrome: A clinical report suggesting autosomal recessive inheritance von Kiper, Pelin Özlem Şimşek, Utine, Gülen Eda, Boduroğlu, Koray, Alanay, Yasemin

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A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia von Şimşek‐Kiper, Pelin Özlem, Karaosmanoğlu, Beren, Taşkıran, Ekim Zihni, Türer, Özlem Boybeyi, Utine, Gülen Eda, Soyer, Tutku

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A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features von Akalın, Akçahan, Şimşek‐Kiper, Pelin Özlem, Taşkıran, Ekim Z., Karaosmanoğlu, Beren, Utine, Gülen Eda, Boduroğlu, Koray

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Further defining the molecular spectrum and long‐term follow‐up of 17 patients with Dyggve–Melchior–Clausen and Smith–McCort dysplasia type 2 von Akalın, Akçahan, Ayaz, Ercan, Soğukpınar, Merve, Avcı‐Durmuşalioğlu, Enise, Ürel‐Demir, Gizem, Yıldız, Adalet Elçin, Atik, Tahir, Elcioglu, Nursel H., Eda Utine, Gulen, Şimşek‐Kiper, Pelin Özlem

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Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes von Bramswig, Nuria C., Lüdecke, Hermann-Josef, Alanay, Yasemin, Albrecht, Beate, Barthelmie, Alexander, Boduroglu, Koray, Braunholz, Diana, Caliebe, Almuth, Chrzanowska, Krystyna H., Czeschik, Johanna Christina, Endele, Sabine, Graf, Elisabeth, Guillén-Navarro, Encarna, Kiper, Pelin Özlem Simsek, López-González, Vanesa, Parenti, Ilaria, Pozojevic, Jelena, Utine, Gulen Eda, Wieland, Thomas, Kaiser, Frank J., Wollnik, Bernd, Strom, Tim M., Wieczorek, Dagmar

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Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type von Van Damme, Tim, Colige, Alain, Syx, Delfien, Giunta, Cecilia, Lindert, Uschi, Rohrbach, Marianne, Aryani, Omid, Alanay, Yasemin, Simsek-Kiper, Pelin Özlem, Kroes, Hester Y., Devriendt, Koen, Thiry, Marc, Symoens, Sofie, De Paepe, Anne, Malfait, Fransiska

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Surgical reconstruction of abnormally located penis in urorectal septum malformation sequence: report of a case von Soyer, Tutku, Büyükyılmaz, Gönül, Çalış, Mert, Kiper, Özlem Pelin Şimşek, Özyüksel, Gül, Boybeyi-Türer, Özlem, Utine, Gülen Eda, Özön, Alev

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