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1دورية أكاديمية
المؤلفون: Tuğba Daşar, Sandra Donkervoort, Pelin Özlem Şimşek Kiper, Rahşan Göçmen, Gülen Eda Utine, Koray Boduroğlu, Carsten Bonnemann, Göknur Haliloğlu
المصدر: Journal of Pediatric Research, Vol 9, Iss 3, Pp 297-301 (2022)
مصطلحات موضوعية: eds, ehlers-danlos syndrome musculocontractural type, chst14, dse, subcutaneous hematoma, Medicine, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: http://jpedres.org/archives/archive-detail/article-preview/a-life-threatening-complication-in-a-patient-with-/52816Test; https://doaj.org/toc/2147-9445Test; https://doaj.org/toc/2587-2478Test
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2دورية أكاديمية
المؤلفون: Gülen Eda Utine, Yasemin Alanay, Dilek Aktaş, Koray Boduroğlu, Mehmet Alikaşifoğlu, Ergül Tunçbilek
المصدر: Journal of Pediatric Research, Vol 4, Iss 2, Pp 63-67 (2017)
مصطلحات موضوعية: Gorlin syndrome, hairy patch, chromosome instability, sister chromatid exchange, hypopigmented lesion, Medicine, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: http://jpedres.org/article_15022/Gorlin-Syndrome-In-Eleven-PatientsTest; https://doaj.org/toc/2147-9445Test
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المؤلفون: Nural Kiper, Nagehan Emiralioglu, Ugur Ozcelik, Sevilay Karahan, Ozlem Satırer, Gülen Eda Utine, Deniz Dogru, Beste Ozsezen, Birce Sunman, Ebru Yalcin, Sanem Eryilmaz Polat, Mina Gharibzadeh Hizal, Koray Boduroğlu, Dilber Ademhan Tural, Pelin Ozlem Simsek-Kiper
المصدر: European Journal of Pediatrics. 181:735-743
مصطلحات موضوعية: Down syndrome, Pediatrics, medicine.medical_specialty, Central sleep apnea, medicine.diagnostic_test, business.industry, Central apnea, Apnea, Sleep apnea, Polysomnography, Anthropometry, medicine.disease, Obstructive sleep apnea, Pediatrics, Perinatology and Child Health, Medicine, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::405c479ef43a2f1ed75bc27d133a03dcTest
https://doi.org/10.1007/s00431-021-04267-wTest -
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المؤلفون: Ekim Z. Taskiran, Akçahan Akalın, Ugur Ozcelik, Pelin Ozlem Simsek-Kiper, Yasemin Alanay, Koray Boduroğlu, Eda Utine
المصدر: American Journal of Medical Genetics Part A. 185:3104-3110
مصطلحات موضوعية: Nosology, Spondyloepimetaphyseal dysplasia, Pathology, medicine.medical_specialty, business.industry, medicine.disease, Short stature, Skeleton (computer programming), Exon, Immune system, Genetics, Medicine, Missense mutation, medicine.symptom, business, Genetics (clinical), Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4e688d1cd22549ae2e17597f23aaf820Test
https://doi.org/10.1002/ajmg.a.62378Test -
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المصدر: Mol Syndromol
مصطلحات موضوعية: Novel Insights from Clinical Practice, Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9378d1970e0a8823da5ac1205bf51309Test
https://europepmc.org/articles/PMC9843558Test/ -
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المؤلفون: Akçahan Akalın, Cansu Özşin, Nagihan Koç, Gizem Ürel Demir, Yasemin Alanay, Eda Utine, Koray Boduroğlu, Meryem Tekçiçek, Pelin Özlem Şimşek-Kiper
المصدر: European Journal of Medical Genetics. 66:104708
مصطلحات موضوعية: Genetics, General Medicine, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bf7dcaa5f529e07c2fcca04f78e33b07Test
https://doi.org/10.1016/j.ejmg.2023.104708Test -
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المؤلفون: Özlem Akgün-Doğan, Anna Schossig, Koray Boduroğlu, Johannes Zschocke, Gülen Eda Utine, Ekim Z. Taskiran, Pelin Ozlem Simsek-Kiper
المصدر: Journal of Child Neurology. 36:816-822
مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Amelogenesis Imperfecta, Kohlschütter-Tönz syndrome, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, medicine, Humans, Amelogenesis imperfecta, Child, Autosomal recessive inheritance, business.industry, Epileptic encephalopathy, Membrane Proteins, Nuclear Proteins, medicine.disease, Phenotype, 030104 developmental biology, Child, Preschool, Pediatrics, Perinatology and Child Health, Dementia, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2caca503d4e3cbe7f630f774e28faf5cTest
https://doi.org/10.1177/08830738211004736Test -
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المؤلفون: Tuğba Daşar, Pelin Özlem Şimşek-Kiper, Ekim Zihni Taşkıran, Murat Çağan, Özgür Özyüncü, Özgür Deren, Gülen Eda Utine, Kadri Şafak Güçer, Koray Boduroğlu
المصدر: European journal of medical genetics. 65(12)
مصطلحات موضوعية: Arthrogryposis, Brain Diseases, Contracture, Pregnancy, TOR Serine-Threonine Kinases, Exome Sequencing, Genetics, Humans, Female, General Medicine, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f087237a5c27a81a992484bdc6de5142Test
https://pubmed.ncbi.nlm.nih.gov/36195292Test -
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المؤلفون: Gülen Eda Utine, Pelin Ozlem Simsek-Kiper, Özlem Akgün-Doğan, Beren Karaosmanoglu, Ekim Z. Taskiran, Koray Boduroğlu, Gizem Ürel-Demir, Busra Aydin
المصدر: Mol Syndromol
مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, Microcephaly, business.industry, 030305 genetics & heredity, Microtia, Telecanthus, Gene mutation, medicine.disease, Kaufman oculocerebrofacial syndrome, Dermatology, Blepharophimosis, 03 medical and health sciences, Ptosis, Novel Insights from Clinical Practice, Failure to thrive, Genetics, medicine, medicine.symptom, business, Genetics (clinical), 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36799ac047b4b9cfd610136303eb3b34Test
https://doi.org/10.1159/000513078Test -
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المؤلفون: Banu Güzel Nur, Gülen Eda Utine, Umut Arslan, Ekim Z. Taskiran, Pelin Ozlem Simsek-Kiper, Koray Boduroğlu, Gizem Ürel-Demir, Mithat Haliloglu, Yasemin Alanay, Ercan Mihci
المصدر: Journal of Human Genetics. 66:585-596
مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Turkey, Limb Deformities, Congenital, Dwarfism, 030105 genetics & heredity, Osteochondrodysplasias, Compound heterozygosity, Short stature, Consanguinity, 03 medical and health sciences, symbols.namesake, Exome Sequencing, Genetics, Humans, Medicine, Missense mutation, Genetic Predisposition to Disease, Cyst, Global developmental delay, Child, Genetics (clinical), Exome sequencing, Sanger sequencing, Tertiary Healthcare, business.industry, Homozygote, Infant, medicine.disease, NPR2, Pedigree, 030104 developmental biology, Child, Preschool, Mutation, symbols, Female, medicine.symptom, business, Receptors, Atrial Natriuretic Factor
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::386ebe02a222f1240056a7abd7b1af5eTest
https://doi.org/10.1038/s10038-020-00871-0Test