المؤلفون: Yagmur Unsal, Murat Yurdakok, Sule Yigit, Hasan Tolga Celik, Ali Dursun, Hatice Serap Sivri, Aysegul Tokatli, Turgay Coskun

المصدر: Journal of pediatric endocrinologymetabolism : JPEMReferences. 35(11)

مصطلحات موضوعية: Endocrinology, Propionic Acidemia, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, Infant, Newborn, Infant, Humans, Hyperammonemia, Acidosis, Amino Acid Metabolism, Inborn Errors, Referral and Consultation, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8788b534d16185352064d7a40f67e7b
https://pubmed.ncbi.nlm.nih.gov/36203204

المؤلفون: Halil Tuna Akar, Yılmaz Yıldız, Gökhan Güvenkaya, Kısmet Çıkı, Ayşe Burcu Kahraman, İzzet Erdal, Turgay Coşkun, Ali Dursun, Hatice Serap Sivri, Ayşegül Tokatlı

المصدر: Balkan Medical Journal, Vol 39, Iss 5, Pp 345-350 (2022)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: http://balkanmedicaljournal.org/abstract.php?lang=en&id=2422; https://doaj.org/toc/2146-3131; https://doaj.org/toc/2146-3123

URL الوصول: https://doaj.org/article/5e0ef359b03e483e9e005be2d4c153d5

المؤلفون: Doğuş Vurallı, Yılmaz Yıldız, Alev Ozon, Ali Dursun, Nazlı Gönç, Ayşegül Tokatlı, H. Serap Sivri, Ayfer Alikaşifoğlu

المصدر: JCRPE, Vol 14, Iss 3, Pp 275-286 (2022)

مصطلحات موضوعية: congenital disorders of glycosylation, diazoxide, hyperinsulinism, hypoglycemia, phosphomannomutase 2 deficiency, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=jcrpe&un=JCRPE-97659; https://doaj.org/toc/1308-5727

URL الوصول: https://doaj.org/article/350ef7fdfc1c4bbd8057957aeb6d01ea

المؤلفون: Berrak Bilginer Gürbüz, Kısmet Çıkı, H. Hakan Aykan, Tevfik Karagöz, Serap Sivri, Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun

المصدر: Cukurova Medical Journal, Vol 46, Iss 4, Pp 1419-1425 (2021)

مصطلحات موضوعية: tirozinemi tip 1, kardiyomiyopati, nitisinon, prognoz, tyrosinemia type 1, cardiomyopathy, nitisinone, prognosis, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://dergipark.org.tr/tr/download/article-file/1930271; https://doaj.org/toc/2602-3040

URL الوصول: https://doaj.org/article/d7ccb0477b394fd699c7504b04028601

المؤلفون: Berrak Bilginer Gürbüz, Ebru Aypar, Dursun Alehan, Ayşegül Tokatlı, Turgay Coşkun, Ali Dursun, H. Serap Sivri

المصدر: Journal of Pediatric Research, Vol 8, Iss 2, Pp 195-201 (2021)

مصطلحات موضوعية: mucopolysaccharidosis iii, cardiac, mitral valve, tricuspid valve, sex, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://jpedres.org/archives/archive-detail/article-preview/evaluation-of-cardiac-findings-in-mucopolysacchari/47464; https://doaj.org/toc/2587-2478

URL الوصول: https://doaj.org/article/ca82d37feadf46dbbc5fdbc0ef6e0928

المؤلفون: Hong-Zhi, Gao, Keiko, Kobayashi, Ayako, Tabata, Hideaki, Tsuge, Mikio, Iijima, Tomotsugu, Yasuda, H Serap, Kalkanoglu, Ali, Dursun, Aysegul, Tokatli, Turgay, Coskun, Friedrich K, Trefz, Daniela, Skladal, Hanna, Mandel, Joerg, Seidel, Soichi, Kodama, Seiko, Shirane, Takafumi, Ichida, Shigeru, Makino, Makoto, Yoshino, Jong-Hon, Kang, Masashi, Mizuguchi, Bruce A, Barshop, Shohei, Fuchinoue, Sara, Seneca, Susan, Zeesman, Ina, Knerr, Margarita, Rodés, Pornswan, Wasant, Ichiro, Yoshida, Linda, De Meirleir, Md, Abdul Jalil, Laila, Begum, Masahisa, Horiuchi, Nobuhiko, Katunuma, Shiro, Nakagawa, Takeyori, Saheki

المساهمون: Department of Embryology and Genetics, Pediatrics

مصطلحات موضوعية: Adult, Male, Citrullinemia, Adolescent, Child, preschool, Genotype, DNA Mutational Analysis, Molecular Sequence Data, Infant, Newborn, Mutation, Missense, Chromosome Mapping, Infant, Argininosuccinate Synthase, Middle Aged, Phenotype, Gene Frequency, Codon, Nonsense, Humans, Female, Amino Acid Sequence, mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::db2902a15cc66e4aff867d91d23cca0e
https://biblio.vub.ac.be/vubir/identification-of-16-novel-mutations-in-the-argininosuccinate-synthetase-gene-and-genotypephenotype-correlation-in-38-classical-citrullinemia-patients(42724c61-41cf-4fb8-8ba0-c3d70cfac97a).html

المؤلفون: Elif Ballikaya, Yılmaz Yildiz, Nagihan Koç, Ayşegül Tokatli, Meryem Uzamis Tekcicek, Hatice Serap Sivri

المصدر: BMC Oral Health, Vol 21, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Maple syrup disease, Dental caries, Gingival inflammation, Panoramic radiography, Dental anomaly, Diet, Dentistry, RK1-715

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1472-6831

URL الوصول: https://doaj.org/article/66527a8d75bc4545b24efa6c1b9732b2

المؤلفون: Ira T. Lott, Robert J. Pomponio, Imran Ozalp, E.Regula Baumgartner, Turgay Coskun, Jeanne Hymes, Aysegul Tokatli, Barry Wolf, Karen J. Norrgard, Terttu Suormala, Vincent Ramaekers

المصدر: The Journal of pediatrics. 132(2)

مصطلحات موضوعية: Male, Weakness, Pediatrics, medicine.medical_specialty, Visual acuity, Adolescent, Neurological disorder, Amidohydrolases, medicine, Humans, Age of Onset, Child, business.industry, Biotinidase, Biotinidase deficiency, Delayed onset, medicine.disease, eye diseases, Surgery, El Niño, Pediatrics, Perinatology and Child Health, Mutation, Female, medicine.symptom, Age of onset, business, Acyltransferases, Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c75f83d44728b4a506de2f7fe05b643
https://pubmed.ncbi.nlm.nih.gov/9506660

المؤلفون: Hong‐Zhi Gao, Keiko Kobayashi, Ayako Tabata, Hideaki Tsuge, Mikio Iijima, Tomotsugu Yasuda, H. Serap Kalkanoglu, Ali Dursun, Aysegul Tokatli, Turgay Coskun, Friedrich K. Trefz, Daniela Skladal, Hanna Mandel, Joerg Seidel, Soichi Kodama, Seiko Shirane, Takafumi Ichida, Shigeru Makino, Makoto Yoshino, Jong‐Hon Kang

المصدر: Human Mutation; Jul2003, Vol. 22 Issue 1, p24-34, 11p

مصطلحات موضوعية: GENETIC disorders, POLYCYSTIC kidney disease, GENETIC mutation, CHEMICAL synthesis, ENZYMES, PHENOTYPES, CHROMOSOMES, UREA

People: SHIMIZU, Nobuyoshi

المؤلفون: Klaus Gempel, Haluk Topaloglu, Beril Talim, Peter Schneiderat, Benedikt G. H. Schoser, Volkmar H. Hans, Beatrix Pálmafy, Gulsev Kale, Aysegul Tokatli, Catarina Quinzii, Michio Hirano, Ali Naini, Salvatore DiMauro, Holger Prokisch, Hanns Lochmüller, Rita Horvath

المصدر: Brain: A Journal of Neurology; Aug2007, Vol. 130 Issue 8, p2037-2037, 1p

مصطلحات موضوعية: MUSCLE diseases, COENZYMES, GENETIC mutation, FLAVOPROTEINS