Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature von Gürsoy, Semra, Hazan, Filiz, Aykut, Ayça, Nalbantoğlu, Özlem, Korkmaz, Hüseyin Anıl, Demir, Korcan, Özkan, Behzat, Çoğulu, Özgür

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Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes von Kırkgöz, Tarık, Gürsoy, Semra, Acar, Sezer, Nalbantoğlu, Özlem, Özkaya, Beyhan, Korkmaz, Hüseyin Anıl, Hazan, Filiz, Özkan, Behzat

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A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis von Kırkgöz, Tarık, Özkan, Behzat, Hazan, Filiz, Acar, Sezer, Nalbantoğlu, Özlem, Özkaya, Beyhan, Kulalı, Melike Ataseven, Gürsoy, Semra, Ikegawa, Shiro, Guo, Long

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Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel KISS1R/GPR54 Loss-of-Function Mutation von Nalbantoğlu, Özlem, Arslan, Gülçin, Köprülü, Özge, Hazan, Filiz, Gürsoy, Semra, Özkan, Behzat

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Evaluation of clinical findings and neurofibromatosis type 1 bright objects on brain magnetic resonance images of 60 Turkish patients with NF1 gene variants von Hazan, Filiz, Gürsoy, Semra, Unalp, Aycan, Yılmaz, Unsal, Demirağ, Bengü, Aydin Köker, Sultan, Ozyılmaz, Berk, Erdogan, Kadri Murat, Kalenderer, Önder, Erkuş, Serkan, Gürçınar, Müge, Tükün, Ajlan

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Do microdeletions lead to immune deficiency? von Karaman, Sait, Hazan, Filiz, Erdem, Semiha Bahçeci, Gülez, Nesrin, Genel, Ferah

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Spectrum of Clinical Manifestations in Turkish Patients with Williams-Beuren Syndrome: A Monocentric Study von Gursoy, Semra, Hazan, Filiz, Zihni, Cuneyt, Acar, Sezer, Yilmazer, Murat Muhtar, Mese, Timur, Ozkan, Behzat

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Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants von Zampieri, Stefania, Cattarossi, Silvia, Oller Ramirez, Ana Maria, Rosano, Camillo, Lourenco, Charles Marques, Passon, Nadia, Moroni, Isabella, Uziel, Graziella, Pettinari, Antonella, Stanzial, Franco, de Kremer, Raquel Dodelson, Azar, Nydia Beatriz, Hazan, Filiz, Filocamo, Mirella, Bembi, Bruno, Dardis, Andrea

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Melanocortin-4 Receptor Gene Mutations in a Group of Turkish Obese Children and Adolescents von Tunç, Selma, Demir, Korcan, Tükün, Fatma Ajlan, Topal, Cihan, Hazan, Filiz, Sağlam, Burcu, Nalbantoğlu, Özlem, Yıldız, Melek, Özkan, Behzat

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Sarcolemmal Alpha and Gamma Sarcoglycan Protein Deficiencies in Turkish Siblings With a Novel Missense Mutation in the Alpha Sarcoglycan Gene von Diniz, Gulden, MD, PhD, Tosun Yildirim, Hulya, MD, Akinci, Gulcin, MD, Hazan, Filiz, MD, Ozturk, Aysel, MD, Yararbas, Kanay, MD, Tukun, Ajlan, MD, PhD

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A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall–Smith syndrome and Malan syndrome von Uzman, Ceren Yılmaz, Gürsoy, Semra, Hazan, Filiz

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Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants von Yılmaz Uzman, Ceren, Gürsoy, Semra, Özkan, Behzat, Vuran, Gamze, Ayyıldız Emecen, Durdugül, Köprülü, Özge, Bilen, Mertkan Mustafa, Hazan, Filiz

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A case of Turner syndrome with concomitant transient hypogammaglobulinaemia of infancy and central diabetes insipidus von Korkmaz, Hüseyin Anıl, Özkan, Behzat, Hazan, Filiz, Büyükinan, Muammer, Çelik, Tanju

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Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene von Tosun Yildirim, Hulya, Serdaroglu, Gul, Diniz, Gulden, Tukun, Ajlan, Yararbas, Kanay, Hazan, Filiz, Gokben, Sarenur

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Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome von Gürsoy, Semra, Hazan, Filiz, Öztürk, Tülay, Ateş, Halil

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Orodental, Facial and Clinical Features of Mutation-Positive Noonan Syndrome: A Monocentric Study von Gürsoy, Semra, Hazan, Filiz, Kaderli, Bülent, Meşe, Timur, Tükün, Ajlan

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Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a Novel EFNB1 Gene Mutation von Gürsoy, Semra, Hazan, Filiz, Öztürk, Tülay, Çolak, Rüya, Çalkavur, Şebnem

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Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations von Jones, Gabriela E, Ostergaard, Pia, Moore, Anthony T, Connell, Fiona C, Williams, Denise, Quarrell, Oliver, Brady, Angela F, Spier, Isabel, Hazan, Filiz, Moldovan, Oana, Wieczorek, Dagmar, Mikat, Barbara, Petit, Florence, Coubes, Christine, Saul, Robert A, Brice, Glen, Gordon, Kristiana, Jeffery, Steve, Mortimer, Peter S, Vasudevan, Pradeep C, Mansour, Sahar

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Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome von Wieczorek, Dagmar, Newman, William G., Wieland, Thomas, Berulava, Tea, Kaffe, Maria, Falkenstein, Daniela, Beetz, Christian, Graf, Elisabeth, Schwarzmayr, Thomas, Douzgou, Sofia, Clayton-Smith, Jill, Daly, Sarah B., Williams, Simon G., Bhaskar, Sanjeev S., Urquhart, Jill E., Anderson, Beverley, O’Sullivan, James, Boute, Odile, Gundlach, Jasmin, Czeschik, Johanna Christina, van Essen, Anthonie J., Hazan, Filiz, Park, Sarah, Hing, Anne, Kuechler, Alma, Lohmann, Dietmar R., Ludwig, Kerstin U., Mangold, Elisabeth, Steenpaß, Laura, Zeschnigk, Michael, Lemke, Johannes R., Lourenco, Charles Marques, Hehr, Ute, Prott, Eva-Christina, Waldenberger, Melanie, Böhmer, Anne C., Horsthemke, Bernhard, O’Keefe, Raymond T., Meitinger, Thomas, Burn, John, Lüdecke, Hermann-Josef, Strom, Tim M.

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Clinical and Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hyperplasia: Novel variants in STAR and CYP17A1 von Koprulu, Ozge

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