Chromosome Analysis in the Assessment for Gender Affirmation Process: A Retrospective Study von Bagcaz, Arda, Boduroglu, O. Koray, Basar, Koray

Volltext

Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease von Simsek Kiper, Pelin O, Saito, Hiroaki, Gori, Francesca, Unger, Sheila, Hesse, Eric, Yamana, Kei, Kiviranta, Riku, Solban, Nicolas, Liu, Jeff, Brommage, Robert, Boduroglu, Koray, Bonafé, 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

Volltext

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome von Lorenz, Sybille, Lissewski, Christina, Simsek-Kiper, Pelin O, Alanay, Yasemin, Boduroglu, Koray, Zenker, Martin, Rosenberger, Georg

Volltext

Typical Face, Developmental Delay, and Hearing Loss in a Patient with 3M Syndrome: The Co-Occurrence of Two Rare Conditions von Akalın, Akçahan, Şimşek-Kiper, Pelin Ö., Taşkıran, Ekim, Utine, Gülen E., Boduroğlu, Koray

Volltext

ADA2 deficiency in a patient with Noonan syndrome‐like disorder with loose anagen hair: The co‐occurrence of two rare syndromes von Akgun‐Dogan, Ozlem, Simsek‐Kiper, Pelin O., Taskiran, Ekim, Lissewski, Christina, Brinkmann, Julia, Schanze, Denny, Göçmen, Rahşan, Cagdas, Deniz, Bilginer, Yelda, Utine, Gülen E., Zenker, Martin, Ozen, Seza, Tezcan, İlhan, Alikasifoglu, Mehmet, Boduroğlu, Koray

Volltext

Molecular Etiology of Isolated Congenital Cataract Using Next-Generation Sequencing: Single Center Exome Sequencing Data from Turkey von Taylan Sekeroglu, Hande, Karaosmanoglu, Beren, Taskiran, Ekim Z., Simsek Kiper, Pelin O., Alikasifoglu, Mehmet, Boduroglu, Koray, Coskun, Turgay, Utine, Gulen Eda

Volltext

Homozygous indel mutation in CDH11 as the probable cause of Elsahy–Waters syndrome von Taskiran, Ekim Z., Karaosmanoglu, Beren, Koşukcu, Can, Doğan, Özlem A., Taylan‐Şekeroğlu, Hande, Şimşek‐Kiper, Pelin Ö., Utine, Eda G., Boduroğlu, Koray, Alikaşifoğlu, Mehmet

Volltext

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa von Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, 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, Gülen Eda, Kılıç, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank

Volltext

Etiological yield of SNP microarrays in idiopathic intellectual disability von Utine, G. Eda, Haliloğlu, Göknur, Volkan-Salancı, Bilge, Çetinkaya, Arda, Kiper, Pelin Ö, Alanay, Yasemin, Aktaş, Dilek, Anlar, Banu, Topçu, Meral, Boduroğlu, Koray, Alikaşifoğlu, Mehmet

Volltext

Further delineation of spondyloepimetaphyseal dysplasia Faden‐Alkuraya type: A RSPRY1‐associated spondylo‐epi‐metaphyseal dysplasia with cono‐brachydactyly and craniosynostosis... von Simsek‐Kiper, Pelin O., Taskiran, Ekim Z., Kosukcu, Can, Urel‐Demir, Gizem, Akgun‐Dogan, Ozlem, Yilmaz, Guney, Utine, Gulen E., Nishimura, Gen, Boduroglu, Koray, Alikasifoglu, Mehmet

Volltext

Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations von Iida, Aritoshi, Simsek-Kiper, Pelin Özlem, Mizumoto, Shuji, Hoshino, Touma, Elcioglu, Nursel, Horemuzova, Eva, Geiberger, Stefan, Yesil, Gozde, Kayserili, Hülya, Utine, Gülen Eda, Boduroglu, Koray, Watanabe, Shigehiko, Ohashi, Hirofumi, Alanay, Yasemin, Sugahara, Kazuyuki, Nishimura, Gen, Ikegawa, Shiro

Volltext

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling von Wieczorek, Dagmar, Bögershausen, Nina, Beleggia, Filippo, Steiner-Haldenstätt, Sabine, Pohl, Esther, Li, Yun, Milz, Esther, Martin, Marcel, Thiele, Holger, Altmüller, Janine, Alanay, Yasemin, Kayserili, Hülya, Klein-Hitpass, Ludger, Böhringer, 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, Guillén-Navarro, Encarnación, Hayek, Joussef, Houge, Gunnar, Kilic, Esra, Simsek-Kiper, Pelin Özlem, López-González, Vanesa, Kuechler, Alma, Lyonnet, Stanislas, Mari, Francesca, Marozza, Annabella, Mathieu Dramard, Michèle, Mikat, Barbara, Morin, Gilles, Morice-Picard, Fanny, Ozkynay, Ferda, Rauch, Anita, Renieri, Alessandra, Tinschert, Sigrid, Utine, G. Eda, Vilain, Catheline, Vivarelli, Rossella, Zweier, Christiane, Nürnberg, Peter, Rahmann, Sven, Vermeesch, Joris, Lüdecke, Hermann-Josef, Zeschnigk, Michael, Wollnik, Bernd

Volltext

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling von Wieczorek, Dagmar, Bögershausen, Nina, Beleggia, Filippo, Steiner-Haldenstätt, Sabine, Pohl, Esther, Li, Yun, Milz, Esther, Martin, Marcel, Thiele, Holger, Altmüller, Janine, Alanay, Yasemin, Kayserili, Hülya, Klein-Hitpass, Ludger, Böhringer, 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, Guillén-Navarro, Encarnación, Hayek, Joussef, Houge, Gunnar, Kilic, Esra, Simsek-Kiper, Pelin Özlem, López-González, Vanesa, Kuechler, Alma, Lyonnet, Stanislas, Mari, Francesca, Marozza, Annabella, Mathieu Dramard, Michèle, Mikat, Barbara, Morin, Gilles, Morice-Picard, Fanny, Ozkinay, Ferda, Rauch, Anita, Renieri, Alessandra, Tinschert, Sigrid, Utine, G Eda, Vilain, Catheline, Vivarelli, Rossella, Zweier, Christiane, Nürnberg, Peter, Rahmann, Sven, Vermeesch, Joris, Lüdecke, Hermann-Josef, Zeschnigk, Michael, Wollnik, Bernd

Volltext

Infantile systemic hyalinosis a case report/ Infantil sistemik hyalinozis: bir olgu sunumu von Gunduz, Ozge, Evans, Sibel Ersoy, Boduroglu, Koray, Alanay, Yasemin, Ozkaya, Ozay

Volltext

Typical Face, Developmental Delay, and Hearing Loss in a Patient with 3M Syndrome: The Co-Occurrence of Two Rare Conditions von Akalın, Akçahan, Şimşek-Kiper, Pelin Ö, Taşkıran, Ekim, Utine, Gülen E, Boduroğlu, Koray

Volltext

İnfantil sistemik hyalinozis: Bir olgu sunumu von ALANAY, Yasemin, BODUROĞLU, Koray, GÜNDÜZ, Özge, EVANS, Sibel Ersoy, ÖZKAYA, Özay

Volltext