Homozygous Mutations in Fibroblast Growth Factor 3 Are Associated with a New Form of Syndromic Deafness Characterized by Inner Ear Agenesis, Microtia, and Microdontia
Tekin, Mustafa, Hişmi, Burcu Öztürk, Fitoz, Suat, Özdağ, Hilal, Cengiz, Filiz Başak, Sırmacı, Aslı, Aslan, İdil, İnceoğlu, Bora, Yüksel-Konuk, E. Berrin, Yılmaz, Seda Taşır, Yasun, Öztan, Akar, Nejat
Published in American journal of human genetics (01.02.2007)
Published in American journal of human genetics (01.02.2007)
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Journal Article
A surprising cause of proteinuria: Questions
Demir, Belde Kasap, Kanık, Ali, Köse, Melis, Hişmi, Burcu Öztürk, Baran, Maşallah
Published in Pediatric nephrology (Berlin, West) (01.05.2022)
Published in Pediatric nephrology (Berlin, West) (01.05.2022)
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Journal Article
A surprising cause of proteinuria: Answers
Demir, Belde Kasap, Kanık, Ali, Köse, Melis, Hişmi, Burcu Öztürk, Baran, Maşallah
Published in Pediatric nephrology (Berlin, West) (01.05.2022)
Published in Pediatric nephrology (Berlin, West) (01.05.2022)
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Journal Article
Improvement in hypertrophic cardiomyopathy after using a high-fat, high-protein and low-carbohydrate diet in a non-adherent child with glycogen storage disease type IIIa
Kumru Akin, Burcu, Ozturk Hismi, Burcu, Daly, Anne
Published in Molecular genetics and metabolism reports (01.09.2022)
Published in Molecular genetics and metabolism reports (01.09.2022)
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Journal Article
Mechanical ventilation in children
Kendirli, Tanil, Kavaz, Asli, Yalaki, Zahide, Oztürk Hişmi, Burcu, Derelli, Emel, Ince, Erdal
Published in Turkish journal of pediatrics (01.10.2006)
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Published in Turkish journal of pediatrics (01.10.2006)
Journal Article
Molecular Aspects of Distal Kidney Tubular Acidosis in Children, Its Long-Term Outcome, and Relationship with Hyperammonemia
Güven, Serçin, Gökçe, İbrahim, Alavanda, Ceren, Öztürk Hişmi, Burcu, Çiçek, Neslihan, Bodur Demirci, Ece, Sak, Mehtap, Yıldız, Nurdan, Ata, Pınar, Alpay, Harika
Published in Turkish archives of pediatrics (01.07.2022)
Published in Turkish archives of pediatrics (01.07.2022)
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Journal Article
Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: Characterization of a founder mutation by use of recombinant CPS1 from insect cells expression
Hu, Liyan, Diez-Fernandez, Carmen, Rüfenacht, Véronique, Hismi, Burcu Öztürk, Ünal, Özlem, Soyucen, Erdogan, Çoker, Mahmut, Bayraktar, Bilge Tanyeri, Gunduz, Mehmet, Kiykim, Ertugrul, Olgac, Asburce, Pérez-Tur, Jordi, Rubio, Vicente, Häberle, Johannes
Published in Molecular genetics and metabolism (01.12.2014)
Published in Molecular genetics and metabolism (01.12.2014)
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Journal Article
A Mortal Complication in a Case with Mucopolysaccharidosis type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage
Yazıcı, Havva, Canda, Ebru, Er, Esra, Malbora, Barış, Öztürk Hismi, Burcu, Onay, Hüseyin, Aksoylar, Serap, Kalkan Uçar, Sema, Özkınay, Ferda, Çöker, MAhmut
Published in Izmir Dr. Behçet Uz Çocuk Hastanesi dergisi (01.01.2021)
Published in Izmir Dr. Behçet Uz Çocuk Hastanesi dergisi (01.01.2021)
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Journal Article
Hematopoietic stem cell transplantation in children with mucopolysaccharidosis IVA: single center experience
Yalcin, Koray, Uygun, Vedat, Ozturk Hismi, Burcu, Celen, Suna, Ozturkmen, Seda, Zhumatayev, Suleimen, Daloglu, Hayriye, Karasu, Gülsün, Yesilipek, Akif
Published in Bone marrow transplantation (Basingstoke) (14.10.2024)
Published in Bone marrow transplantation (Basingstoke) (14.10.2024)
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Journal Article
Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs
Unal, Ozlem, Oztürk-Hişmi, Burcu, Coşkun, Turgay, Tokatlı, Ayşegül, Dursun, Ali, Sivri, Hatice Serap
Published in Turkish journal of pediatrics (01.07.2012)
Published in Turkish journal of pediatrics (01.07.2012)
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Journal Article
Experience with cascade screening: A comprehensive family pedigree analysis of two index patients with Fabry disease
Kisa, Pelin Teke, Hismi, Burcu Ozturk, Kocabey, Mehmet, Gulten, Zumrut Arslan, Huddam, Bulent, Ekinci, Selim, Bozkaya, Evrim, Akar, Harun, Pekuz, Ozge K. Karalar, Aydogan, Ayca, Arslan, Nur
Published in American journal of medical genetics. Part A (01.07.2024)
Published in American journal of medical genetics. Part A (01.07.2024)
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Journal Article
Management of acute metabolic crisis in TANGO2 deficiency: a case report
Yılmaz-Gümüş, Emel, Elcioglu, Nursel H., Genç, Emine, Arıcı, Şule, Öztürk, Gülten, Yapıcı, Özge, Akalın, Figen, Öztürk-Hişmi, Burcu
Published in Journal of Pediatric Endocrinology & Metabolism (26.10.2023)
Published in Journal of Pediatric Endocrinology & Metabolism (26.10.2023)
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Journal Article
Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals
Zubarioglu, Tanyel, Kıykım, Ertuğrul, Köse, Engin, Eminoğlu, Fatma Tuba, Teke Kısa, Pelin, Balcı, Mehmet Cihan, Özer, Işıl, İnci, Aslı, Çilesiz, Kübra, Canda, Ebru, Yazıcı, Havva, Öztürk-Hişmi, Burcu, Bulut, Fatma Derya, Dorum, Sevil, Akgun, Abdurrahman, Yalçın-Çakmaklı, Gül, Kılıç-Yıldırım, Gonca, Soyuçen, Erdoğan, Akçalı, Aylin, Güneş, Dilek, Durmuş, Aslı, Gündüz, Ayşegül, Kasapkara, Çiğdem Seher, Göksoy, Emine, Akar, Halil Tuna, Ersoy, Melike, Erdöl, Şahin, Yıldız, Yılmaz, Hanağası, Haşmet Ayhan, Arslan, Nur, Aktuğlu-Zeybek, Çiğdem
Published in Molecular genetics and metabolism (01.06.2024)
Published in Molecular genetics and metabolism (01.06.2024)
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Journal Article
Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement
Kısa, Pelin Teke, Yildirim, Gonca Kilic, Hismi, Burcu Ozturk, Dorum, Sevil, Kusbeci, Ozge Yilmaz, Topak, Ali, Baydan, Figen, Celik, Fatma Nazlı Durmaz, Gorukmez, Orhan, Gulten, Zumrut Arslan, Ekici, Arzu, Ozkan, Serhat, Yaman, Aylin, Arslan, Nur
Published in Metabolic brain disease (01.08.2021)
Published in Metabolic brain disease (01.08.2021)
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Journal Article
Inflammatory rheumatic diseases in patients with ochronotic arthropathy
Yuce Inel, Tuba, Kisa, Pelin Teke, Balci, Ali, Uslu, Sadettin, Arslan, Zumrut, Hismi, Burcu Ozturk, Ucar, Ulku, Arslan, Nur, Onen, Fatos, Sari, Ismail
Published in Modern rheumatology (03.09.2021)
Published in Modern rheumatology (03.09.2021)
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Journal Article
Renal replacement therapies in pediatric intensive care patients: Experiences of one center in Turkey
KENDİRLI, TANIL, EKİM, MESİHA, ÖZÇAKAR, ZEYNEP BİRSİN, YÜKSEL, SELÇUK, ACAR, BANU, ÖZTÜRK-HIİŞMİ, BURCU, DERELLİ, EMEL, KAVAZ, ASLI, YALAKİ, ZAHİDE, YALÇINKAYA, FATOŞ
Published in Pediatrics international (01.06.2007)
Published in Pediatrics international (01.06.2007)
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