Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign
Inan, Ayse Hitay, Yilmaz, Berna Seker, Bulut, Fatma Derya, Kilavuz, Sebile, Kor, Deniz, Karakas, Mehmet, Mungan, Halise Neslihan Onenli
Published in The journal of pediatric research (01.06.2021)
Published in The journal of pediatric research (01.06.2021)
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Journal Article
Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience
Kilavuz, Sebile, Bulut, Fatma Derya, Kor, Deniz, Yilmaz, Berna Seker, Basaran, Sibel, Sarpel, Tunay, Mungan, Neslihan Onenli
Published in The journal of pediatric research (01.03.2018)
Published in The journal of pediatric research (01.03.2018)
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Journal Article
A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome
Bulut, Fatma Derya, Kor, Deniz, Yilmaz, Berna Seker, Yilmaz, Mustafa, Altintas, Derya Ufuk, Ceylaner, Serdar, Kilavuz, Sebile, Mungan, Neslihan Onenli
Published in The journal of pediatric research (01.03.2018)
Published in The journal of pediatric research (01.03.2018)
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Journal Article
Hiperkarotenemi
Cansever Övetti, Nefise Hilal, Önenli Mungan, Halise Neslihan, Yılmaz, Berna Şeker, Bulut, Fatma Derya
Published in Cukurova Medical Journal (30.06.2018)
Published in Cukurova Medical Journal (30.06.2018)
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Journal Article
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease
Seker Yilmaz, Berna, Baruteau, Julien, Rahim, Ahad A, Gissen, Paul
Published in International journal of molecular sciences (17.07.2020)
Published in International journal of molecular sciences (17.07.2020)
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Journal Article
Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia
Şeker Yılmaz, Berna, Kor, Deniz, Bulut, Fatma Derya, Kılavuz, Sebile, Ceylaner, Serdar, Önenli Mungan, Halise Neslihan
Published in Turkish journal of medical sciences (28.06.2021)
Published in Turkish journal of medical sciences (28.06.2021)
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Journal Article
Evaluation of bone health in patients with mucopolysaccharidosis
Kor, Deniz, Bulut, Fatma Derya, Kılavuz, Sebile, Şeker Yılmaz, Berna, Köşeci, Burcu, Kara, Esra, Kaya, Ömer, Başaran, Sibel, Seydaoğlu, Gülşah, Önenli Mungan, Neslihan
Published in Journal of bone and mineral metabolism (01.05.2022)
Published in Journal of bone and mineral metabolism (01.05.2022)
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Journal Article
Predictors of Intractable Childhood Epilepsy
Seker Yilmaz, Berna, MD, Okuyaz, Cetin, MD, Komur, Mustafa, MD
Published in Pediatric neurology (2013)
Published in Pediatric neurology (2013)
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Journal Article
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study
Seker Yilmaz, Berna, Baruteau, Julien, Chakrapani, Anupam, Champion, Michael, Chronopoulou, Efstathia, Claridge, Lee C., Daly, Anne, Davies, Catherine, Davison, James, Dhawan, Anil, Grunewald, Stephanie, Gupte, Girish L., Heaton, Nigel, Lemonde, Hugh, McKiernan, Pat, Mills, Philippa, Morris, Andrew A.M., Mundy, Helen, Pierre, Germaine, Rajwal, Sanjay, Sivananthan, Siyamini, Sreekantam, Srividya, Stepien, Karolina M., Vara, Roshni, Yeo, Mildrid, Gissen, Paul
Published in Molecular genetics and metabolism reports (01.12.2023)
Published in Molecular genetics and metabolism reports (01.12.2023)
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Journal Article
First case report of Gaucher disease and Graves' thyroiditis
Mungan, Neslihan Önenli, Kor, Deniz, Kılavuz, Sebile, Bulut, Derya, Yılmaz, Berna Şeker
Published in Molecular genetics and metabolism (01.02.2020)
Published in Molecular genetics and metabolism (01.02.2020)
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Journal Article
GP49 Munchausen by proxy syndrome in three siblings diagnosed as isovaleric acidemia
Öz, Sibel, Kılavuz, Sebile, Kor, Deniz, Bulut, Fatma Derya, Yılmaz, Berna Şeker, Bayazıt, Aysun Karabay, Neslihan Önenli Mungan, Halise
Published in Archives of disease in childhood (01.06.2019)
Published in Archives of disease in childhood (01.06.2019)
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Journal Article
P433 An interesting case diagnosed as both phenylketonuria and maternal phenylketonuria
Öz, Sibel, Kor, Deniz, Kılavuz, Sebile, Bulut, Fatma Derya, Yılmaz, Berna Şeker, Demir, Fadli, Kartal, Tuğçe Özakçaoğlu, Yıldırım, Gözde Atasever, Neslihan Önenli Mungan, Halise
Published in Archives of disease in childhood (01.06.2019)
Published in Archives of disease in childhood (01.06.2019)
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Journal Article
Novel therapies for mucopolysaccharidosis type III
Seker Yilmaz, Berna, Davison, James, Jones, Simon A., Baruteau, Julien
Published in Journal of inherited metabolic disease (01.01.2021)
Published in Journal of inherited metabolic disease (01.01.2021)
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Journal Article
Cukurova University experience of lysosomal diseases in adulthood: Report of 57 patients
Mungan, Neslihan, Bulut, Fatma Derya, Şeker-Yılmaz, Berna, Kılavuz, Sebile, Kör, Deniz, Koç, Filiz, Gürkan, Emel, Paydaş, Saime, Güvenç, Birol, Atmış, Bahriye, Deniz, Ali
Published in Molecular genetics and metabolism (01.02.2018)
Published in Molecular genetics and metabolism (01.02.2018)
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Journal Article
The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS
Kılavuz, Sebile, Bulut, Derya, Kor, Deniz, Şeker-Yılmaz, Berna, Özcan, Neslihan, Incecik, Faruk, Onan, Bilen, Ceylaner, Gülay, Önenli-Mungan, Neslihan
Published in Neuropediatrics (01.10.2021)
Published in Neuropediatrics (01.10.2021)
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Journal Article
Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey
Seker Yilmaz, Berna, Mungan, Neslihan Onenli, Kor, Deniz, Bulut, Derya, Seydaoglu, Gülşah, Öktem, Murat, Ceylaner, Serdar
Published in Journal of Pediatric Endocrinology & Metabolism (28.03.2018)
Published in Journal of Pediatric Endocrinology & Metabolism (28.03.2018)
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Journal Article