A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene
Esen, Tuna Eren, Uzun, Özlem Ünal, Ceylan, Ahmet Cevdet
Published in Molecular syndromology (01.12.2023)
Published in Molecular syndromology (01.12.2023)
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Journal Article
Two cases of MEGDHEL syndrome diagnosed with hyperammonemia
Molla, Gülhan Karakaya, Kağnıcı, Mehtap, Günlemez, Ayla, Yeni, Yaşar, Ünal Uzun, Özlem
Published in Journal of Pediatric Endocrinology & Metabolism (23.02.2023)
Published in Journal of Pediatric Endocrinology & Metabolism (23.02.2023)
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Journal Article
Mitochondrial trifunctional protein deficiency as a polyneuropathy etiology in childhood
Uzun, Özlem Ünal, Çavdarlı, Büşra, Karalök, Selen
Published in Turkish journal of pediatrics (01.11.2021)
Published in Turkish journal of pediatrics (01.11.2021)
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Journal Article
Malonyl coenzyme A decarboxylase deficiency with a novel mutation
Kasapkara, Cigdem S., Civelek Ürey, Burcu, Ceylan, Ahmet C., Ünal Uzun, Özlem, Çetin, Ibrahim İ.
Published in Cardiology in the young (01.09.2021)
Published in Cardiology in the young (01.09.2021)
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Journal Article
A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis
Küçükçongar Yavaş, Aynur, Çavdarlı, Büşra, Ünal Uzun, Özlem, Uncuoğlu, Ayşen, Gündüz, Mehmet
Published in Journal of Pediatric Endocrinology & Metabolism (26.05.2020)
Published in Journal of Pediatric Endocrinology & Metabolism (26.05.2020)
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Journal Article
Management of hypersensitivity reactions to enzyme replacement therapy in children with lysosomal storage diseases
Turgay Yagmur, Irem, Unal Uzun, Ozlem, Kucukcongar Yavas, Aynur, Kulhas Celik, Ilknur, Toyran, Muge, Gunduz, Mehmet, Civelek, Ersoy, Dibek Misirlioglu, Emine
Published in Annals of allergy, asthma, & immunology (01.10.2020)
Published in Annals of allergy, asthma, & immunology (01.10.2020)
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Journal Article
Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency
Yılmaz, Begüm, Ceylan, Ahmet Cevdet, Gündüz, Mehmet, Ünal Uzun, Özlem, Küçükcongar Yavaş, Aynur, Bilginer Gürbüz, Berrak, Öncül, Ümmühan, Güleç Ceylan, Gülay, Kasapkara, Çiğdem Seher
Published in European journal of pediatrics (01.03.2024)
Published in European journal of pediatrics (01.03.2024)
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Journal Article
Health-related quality of life in adolescents with psychogenic nonepileptic seizures
Akdemir, Devrim, Uzun, Özlem, Pehlivantürk Özsungur, Berna, Topçu, Meral
Published in Epilepsy & behavior (01.12.2013)
Published in Epilepsy & behavior (01.12.2013)
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Journal Article
The neuropathic pain component among patients with chronic low back-radicular pain
Sivas, Filiz, Uzun, Özlem, Başkan, Bedriye, Bodur, Hatice
Published in Journal of back and musculoskeletal rehabilitation (01.01.2018)
Published in Journal of back and musculoskeletal rehabilitation (01.01.2018)
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