Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals by Ruken Yıldırım, Edip Ünal, Şervan Özalkak, Akçahan Akalın, Ayça Aykut, Nevzat Yılmaz

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Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss. by Tahir Atik, Huseyin Onay, Ayca Aykut, Guney Bademci, Tayfun Kirazli, Mustafa Tekin, Ferda Ozkinay

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

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A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome by Hale Tuhan, MD, Ayhan Abaci, MD, Ayca Aykut, MD, Ahmet Anik, MD, Hüseyin Onay, MD, Ece Bober, MD

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An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission by Gulcin Aytac, Burcu Guven, Ilyas Aydin, Ezgi Topyildiz, Ayca Aykut, Asude Durmaz, Neslihan Edeer Karaca, Guzide Aksu, Necil Kutukculer

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Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference by Necil Kutukculer, Ezgi Topyildiz, Afig Berdeli, Burcu Guven Bilgin, Ayca Aykut, Asude Durmaz, Ozgur Cogulu, Guzide Aksu, Neslihan Edeer Karaca

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A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogo... by Asude Durmaz, Ayça Aykut, Tahir Atik, Samim Özen, Durdugül Ayyıldız Emecen, Aysun Ata, Esra Işık, Damla Gökşen, Özgür Çoğulu, Ferda Özkınay

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Early-Onset Isolated Bilateral Pheochromocytoma As a Major Clinical Manifestation of von-Hippel Lindau Syndrome Type 2C by Sezer Acar, Hale Tuhan, Korcan Demir, Ayça Aykut, Asude Durmaz, Ünal Utku Karaarslan, Gözde İnci, Oğuz Ateş, Ece Böber, Ayhan Abacı

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Diagnostic Role of MicroRNA Expression Profile in the Prenatal Amniotic Fluid Samples of Pregnant Women with Down Syndrome by Emin Karaca, Ayça Aykut, Biray Ertürk, Burak Durmaz, Ahmet Güler, Barış Büke, Ahmet Özgür Yeniel, Ahmet Mete Ergenoğlu, Ferda Özkınay, Mehmet Özeren, Mert Kazandı, Fuat Akercan, Sermet Sağol, Cumhur Gündüz, Özgür Çoğulu

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