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المؤلفون: Asena Gökçay Canpolat, Çağlar Keskin, Berna İmge Aydoğan, Sevim Güllü, Özgür Demir, Mustafa Şahin, Rıfat Emral, Murat Faik Erdoğan, Vedia Tonyukuk Gedik, Demet Çorapçıoğlu, Gülay Ceylaner, Serdar Ceylaner, Nilgün Başkal
المصدر: International Journal of Diabetes in Developing Countries. 43:244-251
مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Internal Medicine
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2
المؤلفون: Zeynep Kihtir, Kıymet Çelik, Funda Tayfun Küpesiz, Osman Alphan Küpesiz, Dilara Fatma Kocacik Uygun, Sema Arayici, Hakan Ongun, İpek Acarbulut, Celal Sağlam, Gülay Ceylaner, Ayşen Bingöl
المصدر: Pediatric Allergy, Immunology, and Pulmonology. 35:43-46
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Pediatrics, Perinatology and Child Health, Immunology and Allergy
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6c50570a7131746ec4c00c03dce61882
https://doi.org/10.1089/ped.2021.0070 -
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المؤلفون: Faruk Incecik, Derya Bulut, Neslihan Önenli-Mungan, Bilen Onan, Neslihan Ozcan, Gülay Ceylaner, Deniz Kor, Sebile Kılavuz, Berna Şeker-Yılmaz
المصدر: Neuropediatrics. 52(5)
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Turkish, Urinary system, 030105 genetics & heredity, Organic aciduria, Glutarates, 03 medical and health sciences, 0302 clinical medicine, Neonatal Screening, medicine, Humans, Amino Acid Metabolism, Inborn Errors, Dystonia, Newborn screening, Glutaryl-CoA Dehydrogenase, business.industry, Brain Diseases, Metabolic, Metabolic disorder, Infant, Newborn, Mean age, General Medicine, Glutarylcarnitine, medicine.disease, language.human_language, Pediatrics, Perinatology and Child Health, language, Neurology (clinical), business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01c374577740195490aa66ac4a97e13f
https://pubmed.ncbi.nlm.nih.gov/33578440 -
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المؤلفون: Fatma Nur Guler, Hale Ahsen Babar, Busra Seniz Demir, Sezgin Mengi, Cemre Ucaryilmaz, Cemre Can Inci, Serdar Ceylaner, Cihan Tastan, Gülay Ceylaner, Aysun Mantas, Ozum Kilic
مصطلحات موضوعية: Genetics, Genetic enhancement, medicine, Glycogen storage disease, CRISPR, Distribution (pharmacology), biochemistry, Biology, medicine.disease
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1269cc79b7d84e24df3864c1fb71fba
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المؤلفون: Melikşah Keskin, Şenay Savaş-Erdeve, Elvan Bayramoğlu, Semra Cetinkaya, Zehra Aycan, Erdal Kurnaz, Gülay Ceylaner, Nursel Muratoğlu Şahin
المصدر: Journal of Clinical Research in Pediatric Endocrinology
مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Genotype, Turkey, Ubiquitin-Protein Ligases, Endocrinology, Diabetes and Metabolism, Central precocious puberty, Puberty, Precocious, 030209 endocrinology & metabolism, genetic analysis, Genetic analysis, MKRN3 mutation, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, medicine, Humans, Precocious puberty, Medical history, In patient, Child, Frameshift Mutation, business.industry, Incidence (epidemiology), medicine.disease, Pedigree, familial central precocious puberty, 030104 developmental biology, Ribonucleoproteins, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Etiology, Female, Original Article, business
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6Isolated congenital diaphragm hernia associated with homozygous SLIT3 gene variant in dizygous twins
المصدر: European Journal of Medical Genetics. 64:104215
مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, SLIT3 Gene, 030105 genetics & heredity, Biology, medicine.disease_cause, SLIT3, 03 medical and health sciences, SLIT1, Twins, Dizygotic, Genetics, SLIT2, medicine, Humans, Hernia, Genetics (clinical), Mutation, Infant, Newborn, Membrane Proteins, Congenital diaphragmatic hernia, General Medicine, medicine.disease, Slit, 030104 developmental biology, embryonic structures, Female, Hernias, Diaphragmatic, Congenital
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المؤلفون: Funda Yavanoglu Atay, Serife Suna Oguz, Serdar Ceylaner, Turan Derme, Nurdan Uras, Gülay Ceylaner, Fatma Nur Sari
المصدر: Digestive diseases and sciences. 62(1)
مصطلحات موضوعية: Male, medicine.medical_specialty, Turkey, Physiology, Na glucose cotransporter, Congenital glucose-galactose malabsorption, 03 medical and health sciences, 0302 clinical medicine, Sodium-Glucose Transporter 1, Malabsorption Syndromes, Internal medicine, medicine, Humans, 030212 general & internal medicine, Gene, Neonatal diarrhea, SLC5A1, biology, business.industry, 0402 animal and dairy science, Gastroenterology, Infant, Newborn, 04 agricultural and veterinary sciences, Hepatology, medicine.disease, 040201 dairy & animal science, Endocrinology, Glucose-galactose malabsorption, Mutation, biology.protein, business, Novel mutation, Carbohydrate Metabolism, Inborn Errors
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المؤلفون: Nurcan Cengiz, Aysun Karabay-Bayazit, Aytül Noyan, Ali Kemal Topaloglu, Berna Şeker-Yılmaz, Gülay Ceylaner, Deniz Kor, Neslihan Önenli-Mungan, Ali Anarat, Bilgin Yüksel, Sevgi Yavuz
المساهمون: Çukurova Üniversitesi
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Genotype, Turkey, Cystinosis, 030232 urology & nephrology, 030204 cardiovascular system & hematology, medicine.disease_cause, Compound heterozygosity, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, medicine, Humans, Child, Mutation, Traditional medicine, business.industry, Clinical course, Infant, medicine.disease, Phenotype, Pedigree, Amino Acid Transport Systems, Neutral, Pediatri, Child, Preschool, Pediatrics, Perinatology and Child Health, New mutation, Female, business, South eastern
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4b89834c5341a0c30234d4532f216c3
https://hdl.handle.net/20.500.12605/5063 -
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المؤلفون: Gülay Ceylaner, Neslihan Önenli Mungan, Berna Seker Yılmaz, Deniz Kor, Selcuk Sızmaz, Özden Özgür Horoz, Fadli Demir
المصدر: Enzyme Engineering.
مصطلحات موضوعية: medicine.medical_specialty, SENGERS SYNDROME, business.industry, Cardiomyopathy, Hypertrophic cardiomyopathy, Exercise intolerance, medicine.disease, Endocrinology, Internal medicine, Lactic acidosis, medicine, Congenital cataracts, medicine.symptom, business, Myopathy, Gene
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5027e6b7e59073bc5054a3261e3ecc86
https://doi.org/10.4172/2329-6674.1000140 -
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المؤلفون: Gurkan Kiran, Ilker Arikan, Deniz Cemgil Arikan, Gülay Ceylaner, Ayhan Coskun
المساهمون: Zonguldak Bülent Ecevit Üniversitesi
المصدر: Journal of the Turkish-German Gynecological Association, Vol 11, Iss 04, Pp 228-232 (2010)
مصطلحات موضوعية: Proband, Pediatrics, medicine.medical_specialty, Polyhydramnios, Partial Trisomy 3q, lcsh:Medicine, Case Report, lcsh:Gynecology and obstetrics, medicine, lcsh:RG1-991, Pregnancy, Fetus, omphalocele, Omphalocele, medicine.diagnostic_test, business.industry, Obstetrics, lcsh:R, Obstetrics and Gynecology, Karyotype, medicine.disease, Kadın Hastalıkları ve Doğum, Hypoplasia, amniocentesis, Amniocentesis, business