Search Results - "Ayyıldız Emecen, Durdugül"

Retinal detachment in a child with Frank-ter Haar syndrome by Furundaoturan, Onur, Esen Baris, Mine, Ayyıldız Emecen, Durdugul, Demirkilinc Biler, Elif

“…To present a rare case of ocular involvement in a child with Frank-ter Haar syndrome (FTHS) presenting retinal detachment. Detailed ophthalmological evaluation…”
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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 Hypogonadism by Durmaz, Asude, Aykut, Ayça, Atik, Tahir, Özen, Samim, Ayyıldız Emecen, Durdugül, Ata, Aysun, Işık, Esra, Gökşen, Damla, Çoğulu, Özgür, Özkınay, Ferda

“…Carboxypeptidase E (CPE) plays a critical role in the biosynthesis of peptide hormones and neuropeptides in the endocrine system and central nervous system…”
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Astım Tanısı ile İzlenen Çocukların Yaşam Kalitesinde Cinsiyet Farkı by Karadeniz, Pınar, Özdoğan, Şebnem, Ayyıldız-Emecen, Durdugül, Öncül, Ümmühan

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Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child by Eser, Hatice Ceren, Ayyildiz Emecen, Durdugul, Topyildiz, Ezgi, Isik, Esra, Edeer Karaca, Neslihan, Atik, Tahir, Aksu, Guzide, Ozkinay, Ferda, Kutukculer, Necil

“…Introduction: Trichohepatoenteric syndrome (THES) is caused by pathogenic mutations in TTC37 and SKIV2L genes and characterized by intractable diarrhea, facial…”
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The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis by Avci Durmusalioglu, Enise, Isik, Esra, Ayyildiz Emecen, Durdugul, Goksen, Damla, Ozen, Samim, Onay, Huseyin, Kose, Melis, Atik, Tahir, Darcan, Sukran, Cogulu, Ozgur, Ozkinay, Ferda

“…Childhood osteoporosis is often a consequence of a chronic disease or its treatment. Lysinuric protein intolerance (LPI), a rare secondary cause of the…”
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Asthma control test and pediatric asthma quality of life questionnaire association in children with poor asthma control by Karadeniz, Pınar, Özdoğan, Şebnem, Ayyıldız-Emecen, Durdugül, Öncül, Ümmühan

“…The aim of this study was to evaluate the association between Pediatric Asthma Quality of Life Questionnaire (PAQLQ) and Asthma Control Test (ACT) in patients…”
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C20orf24: A potential novel gene responsible for Cerebrofaciothoracic Dysplasia by Isik, Esra, Emecen, Durdugul Ayyildiz, Atik, Tahir, Cogulu, Ozgur, Ozkinay, Ferda

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Association between vitamin D receptor gene FokI polymorphism and mortality in patients with sepsis by Bozgul, Sukriye Miray Kilincer, Emecen, Durdugul Ayyildiz, Akarca, Funda Karbek, Bozkurt, Devrim, Aydin, Ozgur, Koca, Didem, Can, Ozge, Unalp, Omer Vedat, Atik, Tahir

“…Background Sepsis is life-threatening organ dysfunction as a result of the host’s dysregulated immune response to infection. The vitamin D receptor ( VDR )…”
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Retinal detachment in a child with Frank-ter Haar syndrome by Furundaoturan, Onur, Esen Baris, Mine, Ayyıldız Emecen, Durdugul, Demirkilinc Biler, Elif

“…To present a rare case of ocular involvement in a child with Frank-ter Haar syndrome (FTHS) presenting retinal detachment. Detailed ophthalmological evaluation…”
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Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome by Ayyildiz Emecen, Durdugul, Isik, Esra, Utine, Gulen E., Simsek-Kiper, Pelin O., Atik, Tahir, Ozkinay, Ferda

“…Mowat-Wilson syndrome (MWS) is a rare autosomal dominant syndrome characterized by distinctive facial features, congenital heart defects, Hirschsprung disease,…”
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