Clinical Evaluation of Pediatric Patients with Hereditary Angioedema
Aydoğdu, Ayşe Kırmızıtaş, Demir, Gizem Ürel
Published in The Tohoku Journal of Experimental Medicine (01.01.2024)
Published in The Tohoku Journal of Experimental Medicine (01.01.2024)
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Journal Article
Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2
Akalın, Akçahan, Ayaz, Ercan, Soğukpınar, Merve, Avcı-Durmuşalioğlu, Enise, Ürel-Demir, Gizem, Yıldız, Adalet Elçin, Atik, Tahir, Elcioglu, Nursel H, Eda Utine, Gulen, Şimşek-Kiper, Pelin Özlem
Published in American journal of medical genetics. Part A (11.06.2024)
Published in American journal of medical genetics. Part A (11.06.2024)
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Journal Article
EXTL3 -Associated Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities: A Lethal Phenotype
Demir, Engin, Adım, Filiz, Döğen, Mehmet Ercüment, Aydoğdu, Ayşe, Yeşil, Edanur, Mermer, Serdar, Başer, Burak, Ürel Demir, Gizem
Published in Pediatric allergy, immunology, and pulmonology (01.12.2023)
Published in Pediatric allergy, immunology, and pulmonology (01.12.2023)
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Journal Article
Ultrasonographic Screening and the Determination of Risk Factors involved in Developmental Dysplasia of the Hip
Demir, Gizem Urel, Sari, Eyup, Karademir, Selmin, Oner, Cigdem, Yildiz, Yasemin Tasci, Onay, Ulas, Bekmez, Senol
Published in The journal of pediatric research (01.03.2020)
Published in The journal of pediatric research (01.03.2020)
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Journal Article
Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities
Soğukpınar, Merve, Demir, Gizem Ürel, Utine, Gülen Eda, Gönç, Elmas Nazlı, Özön, Zeynep Alev, Şimşek-Kiper, Pelin Özlem
Published in European journal of pediatrics (01.09.2024)
Published in European journal of pediatrics (01.09.2024)
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Journal Article
Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients
Akalın, Akçahan, Özşin, Cansu, Koç, Nagihan, Demir, Gizem Ürel, Alanay, Yasemin, Utine, Eda, Boduroğlu, Koray, Tekçiçek, Meryem, Şimşek-Kiper, Pelin Özlem
Published in European journal of medical genetics (01.04.2023)
Published in European journal of medical genetics (01.04.2023)
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Journal Article
Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report
Büyükyılmaz, Gönül, Adıgüzel, Keziban Toksoy, Aksoy, Özlem Yüksel, Kasapkara, Çiğdem Seher, Demir, Gizem Ürel, Demir, Engin, Ergun, Şule Berk, Gürbüz, Fatih, Boyraz, Mehmet
Published in The Turkish journal of pediatrics (01.11.2023)
Published in The Turkish journal of pediatrics (01.11.2023)
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Journal Article
Neonatal ichthyosis-sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature
Demir, Engin, Tuna Kirsaçlioğlu, Ceyda, Saltik-Temizel, İnci Nur, Ürel-Demir, Gizem, Karaosmanoğlu, Beren, Taşkiran, Ekim Zihni, Şimşek-Kiper, Pelin Özlem, Utine, Gülen Eda, Kuloğlu, Zarife, Kansu, Aydan
Published in Clinical dysmorphology (01.04.2023)
Published in Clinical dysmorphology (01.04.2023)
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Journal Article
Peters Plus syndrome: a recognizable clinical entity
Demir, Gizem Ürel, Lafcı, Naz Güleray, Doğan, Özlem Akgün, Şimşek-Kiper, Pelin Özlem, Utine, Gülen Eda
Published in Turkish journal of pediatrics (01.01.2020)
Published in Turkish journal of pediatrics (01.01.2020)
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Journal Article
Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience
Simsek-Kiper, Pelin Ozlem, Urel-Demir, Gizem, Taskiran, Ekim Z., Arslan, Umut Ece, Nur, Banu, Mihci, Ercan, Haliloglu, Mithat, Alanay, Yasemin, Utine, Gulen Eda, Boduroglu, Koray
Published in Journal of human genetics (01.06.2021)
Published in Journal of human genetics (01.06.2021)
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Journal Article
Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry
Utine, Gülen Eda, Şimşek-Kiper, Pelin Özlem, Akgün-Doğan, Özlem, Ürel-Demir, Gizem, Alanay, Yasemin, Aktaş, Dilek, Boduroğlu, Koray, Tunçbilek, Ergül, Alikaşifoğlu, Mehmet
Published in European journal of obstetrics & gynecology and reproductive biology (01.02.2018)
Published in European journal of obstetrics & gynecology and reproductive biology (01.02.2018)
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Journal Article
Psychometric and Psychosocial Evaluation of Adolescents with Turner Syndrome in a Multidisiplinary Approach: A Preliminary Study
Karakök, Burak, Akdemir, Devrim, Yalçın, Sıddıka, Seniz Özusta, Hacer, Utine, Gülen Eda, Doğan, Özlem, Şimşek Kiper, Pelin Özlem, Ürel Demir, Gizem
Published in Güncel pediatri (01.12.2021)
Published in Güncel pediatri (01.12.2021)
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Journal Article
Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum
Ürel-Demir, Gizem, Aydın, Büşra, Karaosmanoğlu, Beren, Akgün-Doğan, Özlem, Taşkıran, Ekim Zihni, Şimşek-Kiper, Pelin Özlem, Utine, Gülen Eda, Boduroğlu, Koray
Published in Molecular syndromology (01.04.2021)
Published in Molecular syndromology (01.04.2021)
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Journal Article
Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum
Akgün Doğan, Özlem, Demir, Gizem Ürel, Kosukcu, Can, Taskiran, Ekim Z., Simsek-Kiper, Pelin Özlem, Utine, Gülen Eda, Alikaşifoğlu, Mehmet, Boduroğlu, Koray
Published in European journal of medical genetics (01.06.2019)
Published in European journal of medical genetics (01.06.2019)
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Journal Article
Further delineation of spondyloepimetaphyseal dysplasia Faden‐Alkuraya type: A RSPRY1‐associated spondylo‐epi‐metaphyseal dysplasia with cono‐brachydactyly and craniosynostosis
Simsek‐Kiper, Pelin O., Taskiran, Ekim Z., Kosukcu, Can, Urel‐Demir, Gizem, Akgun‐Dogan, Ozlem, Yilmaz, Guney, Utine, Gulen E., Nishimura, Gen, Boduroglu, Koray, Alikasifoglu, Mehmet
Published in American journal of medical genetics. Part A (01.09.2018)
Published in American journal of medical genetics. Part A (01.09.2018)
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Journal Article
Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20)
Ürel-Demir, Gizem, Akgün-Doğan, Özlem, Oğuz, Sümeyra, Güleray-Lafcı, Naz, Şimşek-Kiper, Pelin Özlem, Eda Utine, Gülen, Alikaşifoğlu, Mehmet, Boduroğlu, Koray
Published in Molecular syndromology (01.02.2020)
Published in Molecular syndromology (01.02.2020)
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Journal Article
Stuve-Wiedemann sendromu: Nadir bir klinik antite
Ürel Demir,Gizem, Şimşek Kiper,Pelin Özlem, Utine,Gülen Eda
Published in Gazi tıp dergisi (12.09.2020)
Published in Gazi tıp dergisi (12.09.2020)
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Journal Article
Early diagnostic clues of mucolipidosis type II: Significance of radiological findings
Burgac, Ezgi, Kaplan, İrem, Köseci, Burcu, Kara, Esra, Kor, Deniz, Bulut, Fatma Derya, Atmış, Anıl, Pişkin, Ferhatcan, Tuğ Bozdoğan, Sevcan, Urel Demir, Gizem, İncecik, Faruk, Önenli Mungan, Neslihan
Published in American journal of medical genetics. Part A (01.06.2024)
Published in American journal of medical genetics. Part A (01.06.2024)
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Journal Article