المؤلفون: Yazıcı, Havva, Kara, Esra, Bulut, Fatma Derya, Çelik, Merve Yoldaş, Köşeci, Burcu, Karapınar, Fehime Erdem, Burgaç, Ezgi, Yanbolu, Ayşe Yüksel, Kaplan, İrem, Durmaz, Asude, Aykut, Ayça, Canda, Ebru, Kor, Deniz, Uçar, Sema Kalkan, Sözmen, Eser, Çoker, Mahmut, Önenli Mungan, Halise Neslihan

المصدر: Oral Presentation ; page A55.1-A55

الاتاحة: http://dx.doi.org/10.1136/bmjpo-2024-epac.120
https://syndication.highwire.org/content/doi/10.1136/bmjpo-2024-EPAC.120

المؤلفون: Zengin, Okan, Kor, Deniz, Bulut, Fatma Derya, Burgaç, Ezgi, Kaplan, İrem, Gündüz, Nazmiye Tüzel, Mungan, Neslihan Önenli

المصدر: Oral Presentation ; page A46.1-A46

الاتاحة: http://dx.doi.org/10.1136/bmjpo-2024-epac.100
https://syndication.highwire.org/content/doi/10.1136/bmjpo-2024-EPAC.100

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: 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: 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

المصدر: American Journal of Medical Genetics. Part A; Jun2024, Vol. 194 Issue 6, p1-10, 10p

المؤلفون: Önenli Mungan, Neslihan, İncecik, Faruk, ÜREL DEMİR, GİZEM, Tuğ Bozdoğan, Sevcan, Pişkin, Ferhatcan, Atmış, Anıl, BULUT, FATMA DERYA, KOR, DENİZ, Kara, Esra, Köseci, Burcu, Kaplan, İrem, BURGAÇ, EZGİ

الاتاحة: https://doi.org/10.1002/ajmg.a.63545
https://avesis.hacettepe.edu.tr/publication/details/f58ae0af-cbc3-4fc9-9232-33d79f2c4f5c/oai

المؤلفون: KOR, DENİZ, Goksen, Damla, Yesilkaya, Ediz, ÖZEN, SAMİM, Kor, Yilmaz, EREN, ERDAL, Korkmaz, Ozlem, BERBEROĞLU, MERİH, KARAGÜZEL, GÜLAY, Nalbantoglu, Ozlem, Bolu, Semih, Unal, Edip, Akbas, Emine Demet, Evliyaoglu, Olcay, ER, EREN, ABACI, AYHAN, DARCAN, ŞÜKRAN, Polat, Recep, ŞIKLAR, ZEYNEP, Sobu, Elif, ANIK, AHMET, Tayfun, Meltem, Buyukinan, Muammer, ABALI, Saygın, Yilmaz, Gulay Can

Relation: 17cde212-04f0-40a3-b2a9-e3ae7727869e; https://avesis.deu.edu.tr/publication/details/17cde212-04f0-40a3-b2a9-e3ae7727869e/oai

الاتاحة: https://doi.org/10.4274/jcrpe.galenos.2021.2021.0056
https://avesis.deu.edu.tr/publication/details/17cde212-04f0-40a3-b2a9-e3ae7727869e/oai

المؤلفون: Kılavuz, Sebile, Basaran, Sibel, Kor, Deniz, Bulut, Fatma Derya, Erdem, Sevcan, Ballı, Hüseyin Tuğsan, Dağkıran, Muhammed, Bisgin, Atil, Mungan, Halise Neslihan Önenli

المساهمون: BioMarin Pharmaceutical

المصدر: Orphanet Journal of Rare Diseases ; volume 16, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-021-01761-0
http://link.springer.com/content/pdf/10.1186/s13023-021-01761-0.pdf
http://link.springer.com/article/10.1186/s13023-021-01761-0/fulltext.html

المؤلفون: Öz, Sibel, Kor, Deniz, Kılavuz, Sebile, Bulut, Fatma Derya, Yılmaz, Berna Şeker, Demir, Fadli, Kartal, Tuğçe Özakçaoğlu, Yıldırım, Gözde Atasever, Neslihan Önenli Mungan, Halise

المصدر: Abstracts ; page A325.2-A326

الاتاحة: http://dx.doi.org/10.1136/archdischild-2019-epa.769
https://syndication.highwire.org/content/doi/10.1136/archdischild-2019-epa.769

المؤلفون: Öz, Sibel, Kılavuz, Sebile, Kor, Deniz, Bulut, Fatma Derya, Yılmaz, Berna Şeker, Bayazıt, Aysun Karabay, Neslihan Önenli Mungan, Halise

المصدر: Abstracts ; page A49.2-A49

الاتاحة: http://dx.doi.org/10.1136/archdischild-2019-epa.115
https://syndication.highwire.org/content/doi/10.1136/archdischild-2019-epa.115

المؤلفون: Gunes, Seda, ARSLAN, NUR, TÜMER, LEYLA, Ucar, Sema Kalkan, ÜNAL UZUN, ÖZLEM, CANDA, EBRU, KOR, DENİZ, KESKİN, MEHMET, GÜNDÜZ, Mehmet, Eminoglu, Tuba, Kilic, Mustafa, Ersoy, Melike, AKTUĞLU ZEYBEK, AYŞE ÇİĞDEM, Bulut, Derya, Mungan, Neslihan Onenli, ÇOKER, MAHMUT, KILIÇ YILDIRIM, GONCA

Relation: 749a59f1-5d73-4d9b-8e8f-93b38f2659da; https://avesis.deu.edu.tr/publication/details/749a59f1-5d73-4d9b-8e8f-93b38f2659da/oai

الاتاحة: https://doi.org/10.1016/j.ymgme.2022.107252
https://avesis.deu.edu.tr/publication/details/749a59f1-5d73-4d9b-8e8f-93b38f2659da/oai

المؤلفون: Bulut, Fatma Derya, Kor, Deniz, Kilavuz, Sebile, Cicek, Ebru, Koseci, Burcu, Kara, Esra, Burgac, Ezgi, Kaplan, İrem, Onenli Mungan, Neslihan

المصدر: Journal of Paediatrics and Child Health ; volume 59, issue 11, page 1238-1243 ; ISSN 1034-4810 1440-1754

الاتاحة: http://dx.doi.org/10.1111/jpc.16488
https://onlinelibrary.wiley.com/doi/pdf/10.1111/jpc.16488

المؤلفون: Bulut, Fatma Derya, Seydaoğlu, Gülşah, Kor, Deniz, Kılavuz, Sebile, Boz, Aslı, Önenli Mungan, Neslihan

المصدر: Archives de Pédiatrie ; volume 30, issue 7, page 450-454 ; ISSN 0929-693X

الاتاحة: http://dx.doi.org/10.1016/j.arcped.2023.04.006
https://api.elsevier.com/content/article/PII:S0929693X23000921?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0929693X23000921?httpAccept=text/plain

المؤلفون: Bulut, Fatma Derya, Kor, Deniz, Yilmaz, Berna Seker, Yilmaz, Mustafa, Altintas, Derya Ufuk, Ceylaner, Serdar, Kilavuz, Sebile

المساهمون: Çukurova Üniversitesi

مصطلحات موضوعية: lchthyosis, erythroderma, Netherton syndrome, atopy, whole exome sequencing

Relation: JOURNAL OF PEDIATRIC RESEARCH; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://dx.doi.org/10.4274/jpr.63825; https://hdl.handle.net/20.500.12605/9405; 54; 56

الاتاحة: https://hdl.handle.net/20.500.12605/9405
https://doi.org/10.4274/jpr.63825

المؤلفون: Kilavuz, Sebile, Bulut, Fatma Derya, Kor, Deniz, Yilmaz, Berna Seker, Basaran, Sibel, Sarpel, Tunay, Mungan, Neslihan Onenli

المساهمون: Çukurova Üniversitesi

مصطلحات موضوعية: Alkaptonuria, ochronosis, homogentisic acid, homogentisate 1,2 dioxygenate, arthritis

Relation: JOURNAL OF PEDIATRIC RESEARCH; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://dx.doi.org/10.4274/jpr.20982; https://hdl.handle.net/20.500.12605/9408; 11

الاتاحة: https://hdl.handle.net/20.500.12605/9408
https://doi.org/10.4274/jpr.20982

المؤلفون: Kor, Yılmaz, Kor, Deniz

المصدر: Journal of Pediatric Endocrinology and Metabolism ; volume 31, issue 6, page 619-624 ; ISSN 2191-0251 0334-018X

الاتاحة: http://dx.doi.org/10.1515/jpem-2017-0433
http://www.degruyter.com/view/j/jpem.2018.31.issue-6/jpem-2017-0433/jpem-2017-0433.xml
https://www.degruyter.com/document/doi/10.1515/jpem-2017-0433/xml
https://www.degruyter.com/document/doi/10.1515/jpem-2017-0433/pdf

Alternate Title: Metabolik Bozuklukların Gökkuşağı: Konjenital Glikozilasyon Defekti Tanılı 11 Vakanın Değerlendirilmesi. (Turkish)

المؤلفون: Kılavuz, Sebile, Bulut, Derya, Kor, Deniz, Yılmaz, Berna Şeker, Bişgin, Atil, Demir, Fadli, Atmış, Bahriye, Alabaz, Derya, Mungan, Neslihan, Yılmaz, Mustafa

المصدر: Journal of the Child / Çocuk Dergisi; eyl2023, Vol. 23 Issue 3, p31-40, 10p

مصطلحات موضوعية: HUMAN abnormalities, INBORN errors of metabolism, GROWTH disorders, RAINBOWS, CHILD nutrition, METABOLIC disorders

المؤلفون: YAPICI, Şerife Aleyna, ADIGÜZEL, Muhammet, KOR, Deniz

المصدر: Volume: 2, Issue: 1 23-26
Çukurova Tıp Öğrenci Dergisi

مصطلحات موضوعية: Hypercholesterolemia,Xanthoma,Homozygous Familial Hypercholesterolemia, Hiperkolesterolemi,Ksantom,Homozigot Ailesel Hiperkolesterolemi, Medicine, Tıp

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=tubitakulakb::15885d812678477095589f5038ed5977
https://dergipark.org.tr/tr/pub/cukurovatip/issue/70338/1118143