A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation by Fatma Dursun, Serdar Ceylaner

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An infant with glutaric aciduria type IIc diagnosed with a novel mutation by Sedat Işıkay, Ayhan Yaman, Serdar Ceylaner

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Ataxia, tremor, intellectual disability: a case of STXBP1 encephalopathy with a new mutation by Aydan Değerliyurt, Gamze Gezgen Kesen, Serdar Ceylaner

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Central Precocious Puberty in an Infant with Sotos Syndrome and Response to Treatment by Tuğba Kontbay, Zeynep Şıklar, Serdar Ceylaner, Merih Berberoğlu

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Hb Andrew-Minneapolis Variant in a Turkish Family by Hamza Sümter, Soycan Mızrak, Serdar Ceylaner, Duran Canatan

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Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency by Mustafa Kılıç, Saliha Şenel, Kadri Karaer, Serdar Ceylaner

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Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders by Berna Şeker Yılmaz, Serdar Ceylaner, Neslihan Önenli Mungan

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Prenatal Diagnosis of Thoraco-Omphalopagus Conjoined Twins At 13+ Weeks of Pregnancy: A Case Report by Gürkan Kıran, Hakan Kıran, Serdar Ceylaner, Savaş Karakuş

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Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2 by Erdal Eren, Havva Tezcan Ünlü, Serdar Ceylaner, Ömer Tarım

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A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features by Ugur Musabak, Serdar Ceylaner, Tuba Erdogan, Ebru Sebnem Ayva

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Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene by Sarenur Gökben, Gül Serdaroğlu, Sanem Yılmaz, Thierry Bienvenu, Serdar Ceylaner

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“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages by Asburçe Olgaç, Leyla Tümer, Serdar Ceylaner, Gürsel Biberoğlu, Alev Hasanoğlu

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Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis by Aydan Değerliyurt, Mehmet Gündüz, Serdar Ceylaner, Özlem Ünal, Sevim Ünal

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Non-immune Hydrops Fetalis Secondary to Nuchal Cystic Hygroma: Prenatal Detection and Postnatal Evaluation of 5 Cases by Süleyman Eserdağ, Ebru Zülfikaroğlu, Görkem Tuncay, Serdar Ceylaner, Nuri Danışman

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Importance of DNA Sequencing for Abnormal Hemoglobins Detected by HPLC Screening by Duran Canatan, Abdullah Çim, Serpil Delibaş, Emel Altunsoy, Serdar Ceylaner

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Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis by Gonca Kılıç-Yıldırım, Sultan Durmuş-Aydoğdu, Serdar Ceylaner, Jörn Oliver Sass

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Siblings with Ethylmalonic Encephalopathy: Case Report by Çiğdem Seher Kasapkara, Ayşe Aksoy, Emine Polat, Mustafa Kılıç, Serdar Ceylaner

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Multiple Pterygium Syndrome: A Case Report, Comparison with Fetal Akinesia Sequence and Pterygium Syndrome by Fatih Mehmet Kışlal, Rukiye Pınar, Serdar Ceylaner, Uğur Dilmen, Nazlı Cörüt

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p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency by Berna Şeker-Yılmaz, Deniz Kör, Gökhan Tümgör, Serdar Ceylaner, Neslihan Önenli-Mungan

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Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature by Gülen Gül-Mert, Faruk İncecik, M Özlem Hergüner, Serdar Ceylaner, Şakir Altunbaşak

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