Search Results - "Eser Çavdartepe, Büşra"

Assessment of Pathogenic Variants in the PAH Gene and Genotype-Phenotype Correlation in Phenylketonuria Patients from Turkey by Balasar, Özgür, Kadıoğlu Yılmaz, Banu, Başdemirci, Müşerref, Koçak Eker, Hatice, Eser Çavdartepe, Büşra, Şimşek, Levent, Tunçez, Ebru, Duymuş, Fahrettin

“…This study aims to determine the allele and genotype frequency, evaluate genotype-phenotype correlation and contribute to the spectrum of pathogenic variants…”
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A Case Report of a New Variant Associated with Vici Syndrome in a Turkish Infant; EPG5 Frameshift Variant by Ipek, Rojan, Eser Çavdartepe, Büşra, Hazar, Leyla

“…Introduction: Vici syndrome is a congenital multisystem disorder characterized primarily by callosal agenesis, cataracts, cardiomyopathy, combined…”
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Case Report of Two Siblings Diagnosed with Osteogenesis Imperfecta Type XV with a New Mutation in the WNT1 Gene and Review of the Literature by Çavdartepe, Büşra Eser, İpek, Rojan

“…Introduction: Osteogenesis imperfecta (OI) is a heritable disorder characterized by bone fractures and low bone mass. Recently, mutations of the WNT1 gene have…”
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Partial Trisomy 15q and Partial Monosomy 17q in a Boy with Various Dysmorphic Findings by Eser Çavdartepe, Büşra, Koçak, Nadir, Çora, Tülin

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X-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the UBA1 Gene in a Family with Novel Findings from Turkey by Öztürk, Özden, Çavdartepe, Büşra Eser, Bağış, Haydar

“…Spinal muscular atrophy, X-linked 2 (SMAX2) is a rare type of spinal muscular atrophy characterized by muscle weakness, hypotonia, areflexia, myopathic face,…”
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Treacher Collins Syndrome with a Novel Deletion in the TCOF1 Gene by Büşra Eser Çavdartepe, Koçak, Nadir, Yaşa, Nafiz, Çora, Tülin

“…Treacher Collins syndrome (TCS) is a rare autosomal dominant congenital disorder characterized by various craniofacial malformations. The estimated incidence…”
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Pyridoxine-dependent Epilepsy caused by a Novel homozygous mutation in PLPBP Gene by İpek, Rojan, Çavdartepe, Büşra Eser, Kor, Deniz, Okuyaz, Çetin

“…Seizures in newborn infants may be the first finding of hereditary metabolic diseases. Pyridoxine-dependent epilepsy (PDE) is a treatable disorder associated…”
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Case Report of Two Siblings Diagnosed with Osteogenesis Imperfecta Type XV with a New Mutation in the WNT1 Gene and Review of the Literature by Çavdartepe, Büşra Eser, İpek, Rojan

“…IntroductionOsteogenesis imperfecta (OI) is a heritable disorder characterized by bone fractures and low bone mass. Recently, mutations of the WNT1 gene have…”
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X-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the UBA1 Gene in a Family with Novel Findings from Turkey by Öztürk, Özden, Çavdartepe, Büşra Eser, Bağış, Haydar

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