De novo STXBP1 mutation in a child with hypotonia, intellectual disability, tremor and without epilepsy von Yimenicioglu, Sevgi, Ayca Kocaaga

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Psoriasis: An Immunogenetic Perspective von Kocaaga, Ayca, Kocaaga, Mustafa

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Molecular profiling of BRCA1 and BRCA2 genes in Turkish patients with early-onset breast cancer von Karakaya, Taner, Kocaaga, Ayca

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The pattern of chromosomal abnormalities in recurrent miscarriages: a single center retrospective study von Kocaaga, Ayca, Kilic, Halime, Gulec, Sevgi

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Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy von Kocaaga, Ayca, Yimenicioglu, Sevgi

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Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome von Kocaaga, Ayca, Yimenicioglu, Sevgi, Gürsoy, Haluk

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A p.Val412Serfs pathogenic variant associated with Wolfram-like syndrome and leukodystrophy von Kocaaga, Ayca, Yimenicioglu, Sevgi, Bayav, Murat

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Case report: a de-novo 7p12.3 microduplication detected in an infant with perineal hamartoma and imperforate anus von Kocaaga, Ayca, Yimenicioglu, Sevgi, Alici, Cigdem Arslan

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Identification of Novel Gene Variants in Children With Drug-Resistant Epilepsy: Expanding the Genetic Spectrum von Kocaaga, Ayca, Yimenicioglu, Sevgi

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A rare case of Coffin–Lowry syndrome accompanied by a copper-beaten skull appearance von Kocaaga, Ayca, Yimenicioglu, Sevgi

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A novel splice-site variant in the MCPH1 gene manifests with autosomal recessive primary microcephaly von Kocaaga, Ayca, Yimenicioglu, Sevgi

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A Novel KMT2D mutation in Kabuki syndrome with elevated liver enzymes and congenital bilateral hip dislocation von Kocaaga, Ayca, Yimenicioglu, Sevgi

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Association of NOD1 and NOD2 Polymorphisms With Susceptibility to Subacute Sclerosing Panencephalitis von Kocaaga, Ayça, Cakmak Genc, Gunes, Karakas Celik, Sevim, Piskin, İbrahim E., Calik, Mustafa, Dursun, Ahmet

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Clinical, neuroimaging and genetic findings in children with hereditary ataxia: single center study von Bildirici, Yasar, Kocaaga, Ayca, Yimenicioglu, Sevgi

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Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants von Bildirici, Yasar, Kocaaga, Ayca, Karademir-Arslan, Cefa Nil, Yimenicioglu, Sevgi

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Diagnosis and genetic analysis of polycythemia in children and a novel EPAS1 gene mutation von Cakmak, Hatice Mine, Kartal, Omer, Kocaaga, Ayca, Bildirici, Yasar

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Diagnosis and genetic analysis of polycythemia in children and a novel EPAS1 gene mutationWhat is knownWhat is new? von Hatice Mine Cakmak, Omer Kartal, Ayca Kocaaga, Yasar Bildirici

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A novel p.Ala34Val variant in C19orf12 is associated with neurodegeneration with brain iron accumulation von Kocaaga, Ayca, Uzun Uslu, Pınar

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Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy von Kocaaga, Ayca, Yimenicioglu, Sevgi

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Identification of novel variants in retinitis pigmentosa genes by whole-exome sequencing von Kocaaga, Ayca, Aköz, İrem Öztürk, Demir, Nihal Ulus, Paksoy, Bariş

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