The association of Klinefelter syndrome and multiple pterygium syndrome: an unusual presentation by Banu Güzel Nur, Ozden Altıok-Clark, Aslı Toylu, Güven Lüleci, Ercan Mıhçı

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Subtelomeric rearrangements of dysmorphic children with idiopathic mental retardation reveal 8 different chromosomal anomalies by Ercan Mihçi, Mualla Ozcan, Sibel Berker-Karaüzüm, Ibrahim Keser, Sükran Taçoy, Senay Hapsolat, Güven Lüleci

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Bilateral congenital cataracts in an infant with Klinefelter syndrome by Banu Güzel Nur, Özden Altıok-Clark, Hatice Deniz İlhan, Ersin Sayar, İclal Yücel, Ercan Mıhçı

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Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant by Nuray Öztürk, Gökcen Karamık, Hatice Mutlu, Öznur Yılmaz Bayer, Ercan Mıhçı, Gökhan Ozan Çetin, Banu Nur

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Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature by Banu Güzel Nur, Ercan Mıhçı, Stefano Pepe, Gürsel Biberoğlu, Fatih Süheyl Ezgü, Andrea Ballabio, Osman Öztekin, Oğuz Dursun

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Insights on 7p21 deletion including the TWIST1 gene: a case report of an adult patient with macroglossia and a literature review by Alp Peker, Özden Altıok Clark, Mert Coşkun, Ali Duru, Feyza Altunbaş Yalabık, Duygu Gamze Aracı, Aslı Toylu, Sezin Yakut Uzuner, Alper Tunga Derin, Ercan Mıhçı

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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. by Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon

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