Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings by Esra Işık, Bilcağ Akgün, Tahir Atik, Ferda Özkınay, Özgür Çoğulu

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The second case with 47, XY, + 8 [38] / 45, X0 by Ozgür Coğulu, Cengiz Tirpan, Ferda Ozkinay, Cumhur Gündüz, Cihangir Ozkinay

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A case of acute lymphoblastic leukemia with additional chromosomes X and 5 associated with a Philadelphia chromosome in the bone marrow by Burak Durmaz, Asude Alpman Durmaz, Emin Karaca, Güray Saydam, Özgür Çoğulu, Ferda Özkınay

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A case of acute lymphoblastic leukemia with additional chromosomes X and 5 associated with a Philadelphia chromosome in the bone marrow by Burak Durmaz, Asude Alpman Durmaz, Emin Karaca, Güray Saydam, Özgür Çoğulu, Ferda Özkınay

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An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation by Necil Kutukculer, Neslihan Edeer Karaca, Guzide Aksu, Ayca Aykut, Erhan Pariltay, Ozgur Cogulu

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Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene by Sacide Pehlivan, Ferda Ozkinay, Ozlem Okutman, Ozgür Coğulu, Ali Ozcan, Tufan Cankaya, Ayfer Ulgenalp

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The relationship between ACTN3 R577X gene polymorphism and physical performance in amateur soccer players and sedentary individuals by Fatma E. Koku, Süleyman O. Karamızrak, Aynur S. Çiftçi, Hasan Taşlıdere, Burak Durmaz, Özgür Çoğulu

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Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene by Samim Özen, Tahir Atik, Özlem Korkmaz, Hüseyin Onay, Damla Gökşen, Ferda Özkınay, Özgür Çoğulu, Şükran Darcan

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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 Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia by Esra Işık, Hüseyin Onay, Tahir Atik, Aslı Ece Solmaz, Samim Özen, Özgür Çoğulu, Şükran Darcan, Ferda Özkınay

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Prenatal diagnosis of a case with tetrasomy 9p confirmed by cytogenetics, FISH, microarray analysis and review by Gizem Kok Kilic, Erhan Pariltay, Emin Karaca, Burak Durmaz, Huseyin Ekici, Metehan Imamoglu, Firat Okmen, Haluk Akin, Ozgur Cogulu

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Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application by Tahir Atik, Enise Avci Durmusalioglu, Esra Isik, Melis Kose, Seda Kanmaz, Ayca Aykut, Asude Durmaz, Ferda Ozkinay, Ozgur Cogulu

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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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Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype Correlation by Samim Özen, Damla Gökşen, Ferda Evin, Esra Işık, Hüseyin Onay, Bilçağ Akgün, Aysun Ata, Tahir Atik, Füsun Düzcan, Ferda Özkınay, Şükran Darcan, Özgür Çoğulu

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Clinical and Molecular Spectrum of Tuberous Sclerosis Complex Patients: Identification of Three Novel Mutations by Esra Işık, Hüseyin Onay, Tahir Atık, Aslı Ece Solmaz, Demet Terek, Sarenur Gökben, Hasan Tekgül, Ertürk Levent, Mehmet Kantar, Nilgün Kültürsay, Özgür Çoğulu, Ferda Özkınay

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Quality of Life and Psychological Well-being in Children and Adolescents with Disorders of Sex Development by Birsen Şentürk Pilan, Burcu Özbaran, Didem Çelik, Tuğçe Özcan, Samim Özen, Damla Gökşen, İbrahim Ulman, Ali Avanoğlu, Sibel Tiryaki, Hüseyin Onay, Özgür Çoğulu, Ferda Özkınay, Şükran Darcan

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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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