Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience by Handan Kava, Ozlem Akgun-Dogan, Ozlem Akgun-Dogan, Ozlem Akgun-Dogan, Ahmet Yesilyurt, Yasemin Alanay, Yasemin Alanay, Yasemin Alanay, Ugur Isik

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Celiac disease screening in 100 Turkish children with Down syndrome by Yasemin Alanay, Koray Boduroğlu, Ergül Tunçbilek

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Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report by Tugce Bozkurt, Yasemin Alanay, Ugur Isik, Ugur Sezerman

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Analysis of MTHFR 1298A>C in addition to MTHFR 677C>T polymorphism as a risk factor for neural tube defects in the Turkish population by Koray Boduroğlu, Yasemin Alanay, Mehmet Alikaşifoğlu, Dilek Aktaş, Ergül Tunçbilek

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Asymmetry Inside The Symmetry: Mechanisms and Disorders Of Laterality by Yasemin Alanay, Ersin Gümüş, Miray Sekkin, Sebile Güler, Nur Çakar

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Intrauterine Cataract Diagnosis and Follow-up by Sevinç Aksay, İbrahim Bildirici, Cemile Banu Coşar, Yasemin Alanay, Engin Ciğercioğulları

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Spondyloenchondrodysplasia: a rare cause of short stature by Gül Yeşiltepe-Mutlu, Elif Ozsu, Filiz Mine Cizmecioğlu, Yasemin Alanay, Sükrü Hatun

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Cowden syndrome with bronchial asthma by Yasemin Ozsürekci, Süleyman Tolga Yavuz, Yasemin Alanay, Gülen Eda Utine, Omer Kalayci

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Seizures and diagnostic difficulties in hyperinsulinism-hyperammonemia syndrome by Sibel Aka, Yasemin Alanay, Kara E Boodhansingh, Charles A Stanley, Serap Semiz

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A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism by Pelin Özlem Şimşek-Kiper, Yavuz Bayram, Gülen Eda Ütine, Yasemin Alanay, Koray Boduroğlu

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Gorlin Syndrome in Eleven Patients by Gülen Eda Utine, Yasemin Alanay, Dilek Aktaş, Koray Boduroğlu, Mehmet Alikaşifoğlu, Ergül Tunçbilek

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Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance by G Eda Utine, Yasemin Alanay, Dilek Aktaş, Beril Talim, Gülsev Kale, Ergül Tunçbilek

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A case of fucosidosis type II: diagnosed with dysmorphological and radiological findings by Esra Kılıç, Mustafa Kılıç, G Eda Ütine, Serap Sivri, Turgay Coskun, Yasemin Alanay

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Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results by Ozden Hatirnaz Ng, Ozden Hatirnaz Ng, Ozden Hatirnaz Ng, Ilayda Sahin, Yucel Erbilgin, Ozkan Ozdemir, Ozkan Ozdemir, Emrah Yucesan, Nazli Erturk, Merve Yemenici, Ozlem Akgun Dogan, Ozlem Akgun Dogan, Sibel Aylin Ugur Iseri, Ilhan Satman, Ilhan Satman, Yasemin Alanay, Yasemin Alanay, Yasemin Alanay, Ugur Ozbek, Ugur Ozbek, Ugur Ozbek

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Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene by Esra Kiliç, Yasemin Alanay, Eda Utine, Burçe Ozgen-Mocan, Peter N Robinson, Koray Boduroğlu

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Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes by Pelin Ozlem Simşek, Gülen Eda Utine, Ayfer Alikaşifoğlu, Yasemin Alanay, Koray Boduroğlu, Nurgün Kandemir

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A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype by Pelin Ozlem Simşek-Kiper, Gülen Eda Utine, Yasemin Alanay, Dilek Aktaş, Mehmet Alikaşifoğlu, Koray Boduroğlu

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Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients by Gülen Eda Utine, Tolga Celik, Yasemin Alanay, Mehmet Alikaşifoğlu, Koray Boduroğlu, Ergül Tunçbilek, Dilek Aktaş

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Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center by Ozlem Akgun-Dogan, Ozlem Akgun-Dogan, Ozlem Akgun-Dogan, Ecenur Tuc Bengur, Ecenur Tuc Bengur, Beril Ay, Gulsah Sebnem Ozkose, Gulsah Sebnem Ozkose, Emre Kar, Fuat Baris Bengur, Aybike S. Bulut, Aybike S. Bulut, Ayca Yigit, Ayca Yigit, Eylul Aydin, Eylul Aydin, Fatma Nisa Esen, Ozkan Ozdemir, Ozkan Ozdemir, Ahmet Yesilyurt, Yasemin Alanay, Yasemin Alanay, Yasemin Alanay

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Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome by Burçak Bilgin, Serkan Kabaçam, Ekim Taşkıran, Pelin Özlem Şimşek-Kiper, Yasemin Alanay, Koray Boduroğlu, Gülen Eda Utine

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