المؤلفون: Bulut, Fatma Derya, Kor, Deniz, Kılavuz, Sebile, Şeker Yılmaz, Berna, Kaplan, İrem, Ekinci, Faruk, Burgaç, Ezgi, Varol, İlknur, Köşeci, Burcu, Tuğ Bozdoğan, Sevcan, Kara, Esra, Demir, Fadli, Deniz, Ali, Temiz, Fatih, Önenli Mungan, Neslihan

المصدر: European Journal of Medical Genetics , 66 (6) , Article 104764. (2023)

مصطلحات موضوعية: Aortic calcification, Cardiac valve calcification, D409H, Gaucher disease type 3c, Transient neonatal cholestasis

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10171058/1/Gaucher%20type%203c%20manuscript.pdf; https://discovery.ucl.ac.uk/id/eprint/10171058/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10171058/1/Gaucher%20type%203c%20manuscript.pdf
https://discovery.ucl.ac.uk/id/eprint/10171058/

المؤلفون: 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 AM, Mundy, Helen, Pierre, Germaine, Rajwal, Sanjay, Sivananthan, Siyamini, Sreekantam, Srividya, Stepien, Karolina M, Vara, Roshni, Yeo, Mildrid, Gissen, Paul

المصدر: Molecular Genetics and Metabolism Reports , 37 , Article 101020. (2023) (In press).

مصطلحات موضوعية: Liver transplantation, Ornithine transcarbamylase deficiency, Metabolic correction, Neurological outcome, Growth

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10181706/1/1-s2.0-S2214426923000666-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10181706/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10181706/1/1-s2.0-S2214426923000666-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10181706/

المؤلفون: Seker Yilmaz, Berna, Gissen, Paul

المصدر: The Biochemist , 45 (4) pp. 2-5. (2023)

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10176720/1/bio_2023_128.pdf; https://discovery.ucl.ac.uk/id/eprint/10176720/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10176720/1/bio_2023_128.pdf
https://discovery.ucl.ac.uk/id/eprint/10176720/

المؤلفون: Seker Yilmaz, Berna, Gissen, Paul

المصدر: EMBO Molecular Medicine , Article e17285. (2023)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10166024/1/Targeting%20the%20liver%20to%20treat%20the%20eye.pdf; https://discovery.ucl.ac.uk/id/eprint/10166024/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10166024/1/Targeting%20the%20liver%20to%20treat%20the%20eye.pdf
https://discovery.ucl.ac.uk/id/eprint/10166024/

المؤلفون: Şeker Yılmaz, Berna, Baruteau, Julien, Arslan, Nur, Aydın, Halil İbrahim, Barth, Magalie, Bozaci, Ayse Ergul, Brassier, Anais, Canda, Ebru, Cano, Aline, Chronopoulou, Efstathia, Connolly, Grainne M., Damaj, Lena, Dawson, Charlotte, Dobbelaere, Dries, Douillard, Claire, Eminoğlu, Fatma Tuba, Ersoy, Melike, Fang, Sherry, Feillet, Francois, Gökcay, Gülden, Göksoy, Emine, Gorce, Magali, Inci, Aslı, Kadioğlu, Banu, Kardaş, Fatih, Kasapkara, Çiğdem Seher, Kılıç Yıldırım, Gonca, Kor, Deniz, Kose, Melis, Marelli, Cecilia, Mundy, Helen, O'Sullivan, Siobhan, Öztürk Hismi, Burcu, Ramachandran, Radha, Roubertie, Agathe, Sanlilar, Mehtap, Schiff, Manuel, Sreekantam, Srividya, Stepien, Karolina M., Uzun Ünal, Özlem, Yıldız, Yılmaz, Zubarioğlu, Tanyel, Gissen, Paul

المساهمون: Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı, Erdöl, Şahin, ERDÖL, ŞAHİN, HSF-7083-2023

مصطلحات موضوعية: Urea cycle disorders, Gene-therapy, Liver, Diseases, Involvement, Frequency, Diagnosis, Efficacy, Safety, Ornithine transcarbamylase deficiency, Hyperammonaemia, Neonatal-onset, Late-onset, Asymptomatic, Protein restriction, Ammonia scavengers, Liver transplantation, Science & technology, Life sciences & biomedicine, Biology, Microbiology

وصف الملف: application/pdf

Relation: Makale - Uluslararası Hakemli Dergi; Life-basel; https://doi.org/10.3390/life12111721; https://hdl.handle.net/11452/48843; 000881295300001; 12; 11

الاتاحة: https://hdl.handle.net/11452/48843
https://doi.org/10.3390/life12111721

المؤلفون: Kor, Deniz, Bulut, Fatma Derya, Kılavuz, Sebile, Şeker Yılmaz, Berna, Köşeci, Burcu, Kara, Esra, Kaya, Ömer, Başaran, Sibel, Seydaoğlu, Gülşah, Önenli Mungan, Neslihan

المصدر: Journal of Bone and Mineral Metabolism , 40 (3) pp. 498-507. (2022)

مصطلحات موضوعية: Mucopolysaccharidosis, 25(OH)D-3, Bone mineral density, Skeletal system, Dysostosis multiplex

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10159282/1/29.11.21-JBMM%20%282%29.pdf; https://discovery.ucl.ac.uk/id/eprint/10159282/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10159282/1/29.11.21-JBMM%20%282%29.pdf
https://discovery.ucl.ac.uk/id/eprint/10159282/

المؤلفون: Seker Yilmaz, Berna, Baruteau, Julien, Arslan, Nur, Aydin, Halil Ibrahim, Barth, Magalie, Bozaci, Ayse Ergul, Brassier, Anais, Canda, Ebru, Cano, Aline, Chronopoulou, Efstathia, Connolly, Grainne M, Damaj, Lena, Dawson, Charlotte, Dobbelaere, Dries, Douillard, Claire, Eminoglu, Fatma Tuba, Erdol, Sahin, Ersoy, Melike, Fang, Sherry, Feillet, François, Gokcay, Gulden, Goksoy, Emine, Gorce, Magali, Inci, Asli, Kadioglu, Banu, Kardas, Fatih, Kasapkara, Cigdem Seher, Kilic Yildirim, Gonca, Kor, Deniz, Kose, Melis, Marelli, Cecilia, Mundy, Helen, O’Sullivan, Siobhan, Ozturk Hismi, Burcu, Ramachandran, Radha, Roubertie, Agathe, Sanlilar, Mehtap, Schiff, Manuel, Sreekantam, Srividya, Stepien, Karolina M, Uzun Unal, Ozlem, Yildiz, Yilmaz, Zubarioglu, Tanyel, Gissen, Paul

المصدر: Life , 12 (11) , Article 1721. (2022)

مصطلحات موضوعية: ornithine transcarbamylase deficiency, hyperammonaemia, neonatal-onset, late-onset, asymptomatic, protein restriction, ammonia scavengers, liver transplantation

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10158479/1/life-12-01721.pdf; https://discovery.ucl.ac.uk/id/eprint/10158479/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10158479/1/life-12-01721.pdf
https://discovery.ucl.ac.uk/id/eprint/10158479/

المؤلفون: Seker Yilmaz, Berna, Davison, James, Jones, Simon A., Baruteau, Julien

المصدر: JOURNAL OF INHERITED METABOLIC DISEASE 44(1) 129-147

Relation: https://aperta.ulakbim.gov.tr/record/11167; oai:zenodo.org:11167

الاتاحة: https://aperta.ulakbim.gov.tr/record/11167

المؤلفون: Seker Yilmaz, Berna, Davison, James, Jones, Simon A., Baruteau, Julien

المساهمون: Medical Research Council Canada, National Institute for Health Research, Türkiye Bilimsel ve Teknolojik Araştirma Kurumu

المصدر: Journal of Inherited Metabolic Disease ; volume 44, issue 1, page 129-147 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1002/jimd.12316
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12316
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jimd.12316

المؤلفون: Seker Yilmaz, Berna, Gissen, Paul

المصدر: Biomedicines; Aug2023, Vol. 11 Issue 8, p2227, 14p

مصطلحات موضوعية: ORNITHINE, GENE therapy, GENOME editing, LIVER transplantation, THERAPEUTICS, GENETIC transformation

المؤلفون: Kılavuz, Sebile, Bulut, Derya, Kor, Deniz, Şeker-Yılmaz, Berna, Özcan, Neslihan, Incecik, Faruk, Onan, Bilen, Ceylaner, Gülay, Önenli-Mungan, Neslihan

المصدر: Neuropediatrics ; volume 52, issue 05, page 358-369 ; ISSN 0174-304X 1439-1899

الاتاحة: http://dx.doi.org/10.1055/s-0040-1722691
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0040-1722691.pdf

المؤلفون: Kılıç Yıldırım, Gonca, Yarar, Coşkun, Şeker Yılmaz, Berna, Ceylaner, Serdar

المصدر: Journal of Pediatric Endocrinology and Metabolism ; volume 35, issue 4, page 535-541 ; ISSN 0334-018X 2191-0251

الاتاحة: http://dx.doi.org/10.1515/jpem-2021-0052
https://www.degruyter.com/document/doi/10.1515/jpem-2021-0052/xml
https://www.degruyter.com/document/doi/10.1515/jpem-2021-0052/pdf

المؤلفون: SEKER YILMAZ, Berna, GÜLŞEN ATALAY, Betul

المصدر: Volume: 42, Issue: 6 620-626 ; 1305-4953 ; 2587-1579 ; Osmangazi Tıp Dergisi

مصطلحات موضوعية: obezite,D vitamini,insulin,dislipidemi, Obesity, vitamin D, insulin, dyslipidemia

وصف الملف: application/pdf

Relation: https://dergipark.org.tr/tr/download/article-file/995510; https://dergipark.org.tr/tr/pub/otd/issue/57164/681619

الاتاحة: https://dergipark.org.tr/tr/pub/otd/issue/57164/681619
https://doi.org/10.20515/otd.681619

المؤلفون: SEKER YILMAZ, Berna, GÜLŞEN ATALAY, Betul

المصدر: Volume: 42, Issue: 6 620-626
Osmangazi Tıp Dergisi

مصطلحات موضوعية: Obesity, vitamin D, insulin, dyslipidemia, Health Care Sciences and Services, Sağlık Bilimleri ve Hizmetleri, obezite,D vitamini,insulin,dislipidemi

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=tubitakulakb::ed490284d879d5710915207aed135097
https://dergipark.org.tr/tr/pub/otd/issue/57164/681619

المؤلفون: Mungan, Neslihan, Bulut, Fatma Derya, Kor, Deniz, Seker-Yilmaz, Berna, Kilavuz, Sebile, Onan, Bilen, Basaran, Sibel

المساهمون: Çukurova Üniversitesi

Relation: MOLECULAR GENETICS AND METABOLISM; Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı; https://dx.doi.org/10.1016/j.ymgme.2017.12.266; https://hdl.handle.net/20.500.12605/9416; 123; S101

الاتاحة: https://hdl.handle.net/20.500.12605/9416
https://doi.org/10.1016/j.ymgme.2017.12.266

المؤلفون: Mungan, Neslihan, Bulut, Fatma Derya, Seker-Yilmaz, Berna, Kilavuz, Sebile, Kor, Deniz, Koc, Filiz, Gurkan, Emel

المساهمون: Çukurova Üniversitesi

Relation: MOLECULAR GENETICS AND METABOLISM; Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı; https://dx.doi.org/10.1016/j.ymgme.2017.12.263; https://hdl.handle.net/20.500.12605/9424; 123; S100

الاتاحة: https://hdl.handle.net/20.500.12605/9424
https://doi.org/10.1016/j.ymgme.2017.12.263

المؤلفون: Bulut, Fatma Derya, Kor, Deniz, Seker-Yilmaz, Berna, Herguner, Ozlem, Ceylaner, Serdar, Özkınay, Ferda, Kilavuz, Sebile, Onenli-Mungan, Neslihan

مصطلحات موضوعية: GBA gene, Gaucher disease type II, Ichthyosis, Dystonia, Collodion baby

Relation: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Metabolic Brain Disease; https://hdl.handle.net/11454/30126; https://doi.org/10.1007/s11011-018-0236-0; 33; 1223; 1227

الاتاحة: https://hdl.handle.net/11454/30126
https://doi.org/10.1007/s11011-018-0236-0

المؤلفون: Seker Yilmaz, Berna, Mungan, Neslihan Onenli, Kor, Deniz, Bulut, Derya, Seydaoglu, Gülşah, Öktem, Murat, Ceylaner, Serdar

المصدر: Journal of Pediatric Endocrinology and Metabolism ; volume 31, issue 3, page 339-343 ; ISSN 2191-0251 0334-018X

الاتاحة: http://dx.doi.org/10.1515/jpem-2017-0406
http://www.degruyter.com/view/j/jpem.2018.31.issue-3/jpem-2017-0406/jpem-2017-0406.xml
https://www.degruyter.com/document/doi/10.1515/jpem-2017-0406/xml
https://www.degruyter.com/document/doi/10.1515/jpem-2017-0406/pdf

Alternate Title: Evaluation of Clinical and Molecular Features of 20 Patients with Urea Cycle Enzyme Deficiency: Cukurova University Experience with Eight New Mutations.

المؤلفون: KOR, Deniz¹ dozonur@yahoo.com, SEKER YILMAZ, Berna², BULUT, Fatma Derya¹, KILAVUZ, Sebile¹, ÖNENLİ MUNGAN, Halise Neslihan¹

المصدر: Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi. 2020, Vol. 14 Issue 2, p119-123. 5p.

المؤلفون: Bulut, Fatma Derya, Kör, Deniz, Şeker-Yılmaz, Berna, Gül-Mert, Gülen, Kılavuz, Sebile, Önenli-Mungan, Neslihan

المصدر: Metabolic Brain Disease ; volume 33, issue 3, page 977-979 ; ISSN 0885-7490 1573-7365

الاتاحة: http://dx.doi.org/10.1007/s11011-017-0152-8
http://link.springer.com/article/10.1007/s11011-017-0152-8/fulltext.html
http://link.springer.com/content/pdf/10.1007/s11011-017-0152-8.pdf