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1Academic Journal
المؤلفون: Ozden Hatirnaz Ng, Ilayda Sahin, Yucel Erbilgin, Ozkan Ozdemir, Emrah Yucesan, Nazli Erturk, Merve Yemenici, Ozlem Akgun Dogan, Sibel Aylin Ugur Iseri, Ilhan Satman, Yasemin Alanay, Ugur Ozbek
المصدر: Frontiers in Public Health, Vol 10 (2023)
مصطلحات موضوعية: rare disease, survey, Türkiye, ISTisNA, patient expectations, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Ozkan Ozdemir, Ece Egemen, Sibel Aylin Ugur Iseri, Osman Ugur Sezerman, Nerses Bebek, Betul Baykan, Ugur Ozbek
المصدر: PLoS ONE, Vol 14, Iss 2, p e0211917 (2019)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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3
المؤلفون: Seda Susgun, Mert Demirel, Gul Yalcin Cakmakli, Baris Salman, Kader K. Oguz, Bulent Elibol, Sibel Aylin Ugur Iseri, Zuhal Yapici
المصدر: International Journal of Neuroscience. :1-6
مصطلحات موضوعية: General Neuroscience, General Medicine
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4
المؤلفون: Sevcan Mercan, Nihan Hande Akcakaya, Baris Salman, Zuhal Yapici, Ugur Ozbek, Sibel Aylin Ugur Iseri
المصدر: Genes & Genomics. 45:13-21
مصطلحات موضوعية: Genetics, Molecular Biology, Biochemistry
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5
المؤلفون: Seda Susgun, Yesim Kesim, Dovlat Khalilov, Nermin Gorkem Sirin, Hasim Gezegen, Baris Salman, Emrah Yucesan, Gulden Gokcay, Huseyin Kutay Korbeyli, Mehmet Cihan Balci, Sibel Aylin Ugur Iseri, Betul Baykan, Nerses Bebek
المصدر: Neurological Sciences.
مصطلحات موضوعية: Psychiatry and Mental health, Neurology (clinical), Dermatology, General Medicine
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6
المؤلفون: Ozden Hatirnaz Ng (9412223), Ilayda Sahin (11797796), Yucel Erbilgin (14324961), Ozkan Ozdemir (6316592), Emrah Yucesan (9412220), Nazli Erturk (14324964), Merve Yemenici (14324967), Ozlem Akgun Dogan (12223620), Sibel Aylin Ugur Iseri (6316598), Ilhan Satman (2847812), Yasemin Alanay (3435407), Ugur Ozbek (298049)
مصطلحات موضوعية: Mental Health Nursing, Midwifery, Nursing not elsewhere classified, Aboriginal and Torres Strait Islander Health, Aged Health Care, Care for Disabled, Community Child Health, Environmental and Occupational Health and Safety, Epidemiology, Family Care, Health and Community Services, Health Care Administration, Health Counselling, Health Information Systems (incl. Surveillance), Health Promotion, Preventive Medicine, Primary Health Care, Public Health and Health Services not elsewhere classified, Nanotoxicology, Health and Safety, Medicine, Nursing and Health Curriculum and Pedagogy, rare disease, survey, Türkiye, ISTisNA, patient expectations
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7
المؤلفون: Sevcan Mercan, Sibel Aylin Ugur Iseri, Remzi Yigiter, Nihan Hande Akcakaya, Esen Saka, Zuhal Yapici
مصطلحات موضوعية: Mitochondrial Proteins, Arts and Humanities (miscellaneous), Mitochondrial Membranes, Mutation, Brain, Humans, Neurology (clinical), Follow-Up Studies
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8
المؤلفون: Pınar Bekdik Şirinocak, Betül Baykan, Nerses Bebek, Sibel Aylin Ugur Iseri, Fatma Yeşim Kesim, Barış Salman
المصدر: Türk Nöroloji Dergisi, Vol 25, Iss 4, Pp 233-236 (2019)
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, efhc1 gene, medicine.disease, juvenile myoclonic epilepsy, risk factor, exom sequencing, Medicine, Neurology (clinical), Neurology. Diseases of the nervous system, Juvenile myoclonic epilepsy, business, RC346-429, Gene, genetic susceptibility
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9
المؤلفون: Betül Baykan, Ugur Ozbek, Seda Süsgün, Yesim Kesim, Sibel Aylin Ugur Iseri, Kemal Tutkavul, Ozkan Ozdemir, Emrah Yücesan, Nerses Bebek, Semih Ayta, Aysin Dervent, Garen Haryanyan, Barış Salman, Cigdem Ozkara
المساهمون: YÜCESAN, EMRAH
مصطلحات موضوعية: 0301 basic medicine, Status epilepticus, Disease, Progressive myoclonus epilepsy, 030105 genetics & heredity, Biology, medicine.disease, Phenotype, Lafora disease, 03 medical and health sciences, 030104 developmental biology, Immunology, Genetics, medicine, Gene pool, medicine.symptom, Allele, Laforin, Genetics (clinical), Haryanyan G., Ozdemir O., Tutkavul K., Dervent A., Ayta S., Ozkara C., Salman B., Yucesan E., Kesim Y., Susgun S., et al., -The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey.-, Journal of human genetics, 2021
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10
المؤلفون: Emrah Yücesan, Barış Salman, Haşmet Hanağası, Ugur Ozbek, İbrahim Gürvit, Sibel Aylin Ugur Iseri, Başar Bilgiç, Bedia Samanci
المساهمون: Acibadem University Dspace
المصدر: Volume: 84, Issue: 4 457-463
Journal of Istanbul Faculty of Medicineمصطلحات موضوعية: Genetics, Sanger sequencing, Candidate gene, RNA recognition motif, Autosomal recessive dystonia, In silico, Alternative splicing, Autosomal recessive dystonia,whole genome genotyping,linkage analysis,whole exome sequencing,alternative splicing, Locus (genetics), Biology, Otozomal resesif distoni,tüm genom genotipleme,bağlantı analizi,tüm ekzom dizileme,alternatif kırpılma, whole exome sequencing, alternative splicing, Exon, symbols.namesake, Health Care Sciences and Services, symbols, linkage analysis, Sağlık Bilimleri ve Hizmetleri, whole genome genotyping, Exome sequencing
وصف الملف: application/pdf
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11
المؤلفون: Mustafa Calik, Feyza Nur Tuncer, Yesim Kesim, Ugur Ozbek, Emrah Yücesan, Sibel Aylin Ugur Iseri, Gunes Altiokka Uzun
المساهمون: YÜCESAN, EMRAH
المصدر: Journal of Human Genetics. 64:421-426
مصطلحات موضوعية: Male, 0301 basic medicine, Candidate gene, Genetic Linkage, Genes, Recessive, 030105 genetics & heredity, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Peptide Elongation Factor 1, Loss of Function Mutation, Genetic linkage, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Protein Isoforms, Family, Allele, Genetics (clinical), Loss function, Exome sequencing, Genetic heterogeneity, Genetic Diseases, Inborn, medicine.disease, 030104 developmental biology, Ugur I., Yucesan E., Tuncer F., Calik M., Kesim Y., Altiokka U., Ozbek U., -Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability.-, Journal of human genetics, cilt.64, ss.421-426, 2019, Female, Translational elongation
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12
المؤلفون: Ayşe Çırakoğlu, Raif Çakmur, Ugur Ozbek, Zeliha Gormez, Sibel Aylin Ugur Iseri, Nihan Hande Akçakaya, Barış Salman, Yelda Tarkan Argüden, Berril Dönmez Çolakoğlu, Zuhal Yapici, Seniha Hacıhanefioğlu
المساهمون: İstinye Üniversitesi, Mühendislik ve Doğa Bilimleri Fakültesi, Yazılım Mühendisliği Bölümü, Gormez, Zeliha
المصدر: NeuroMolecular Medicine. 21:54-59
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, Iron, media_common.quotation_subject, Nonsense, Pseudoautosomal region, Neuroimaging, Biology, Whole Exome Sequencing, Loss of heterozygosity, 03 medical and health sciences, Cellular and Molecular Neuroscience, symbols.namesake, 0302 clinical medicine, WDR45, Genes, X-Linked, Bpan, Exome Sequencing, Humans, Wdr45, Saliva, Exome, X chromosome, Exome sequencing, Genes, Dominant, media_common, Brain Chemistry, Genetics, Sanger sequencing, Chromosomes, Human, X, Movement Disorders, Mosaicism, Brain, Neurodegenerative Diseases, DNA, X Chromosome Heterozygosity, Magnetic Resonance Imaging, 030104 developmental biology, Neurology, Codon, Nonsense, Disease Progression, Mental Retardation, X-Linked, symbols, Molecular Medicine, Atrophy, Carrier Proteins, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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13Academic Journal
المؤلفون: Semı̇h Taşdelen, Gözde Yeşı̇l Sayın, Sı̇bel Aylı̇n Uğur İşerı̇, Nerses Bebek, Betül Baykan
المصدر: Archives of Epilepsy, Vol 29, Iss 4, Pp 121-125 (2023)
مصطلحات موضوعية: synaptopathy, benign familial infantile epilepsy, paroxysmal kinesigenic dyskinesia, prrt2, Neurology. Diseases of the nervous system, RC346-429, Medicine
وصف الملف: electronic resource
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14
المؤلفون: Esra Battaloglu, Nihan Hande Akçakaya, Murat Gultekin, Hasmet Hanagasi, Mefkure Eraksoy, Zuhal Yapici, Recep Alp, Pinar Tekturk, Gokcen Akar, Birdal Bilir, Remzi Yigiter, Ugur Ozbek, Sibel Aylin Ugur Iseri, Sultan Cagirici
المصدر: Clinical Neurology and Neurosurgery. 154:34-42
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Pathology, Turkey, Late onset, Disease, 03 medical and health sciences, 0302 clinical medicine, PANTOTHENATE KINASE 2, medicine, Humans, Missense mutation, Age of Onset, Gait Disorders, Neurologic, Pantothenate Kinase-Associated Neurodegeneration, Early onset, Dystonia, business.industry, Neurodegeneration, General Medicine, medicine.disease, PANK2, Pedigree, Phosphotransferases (Alcohol Group Acceptor), 030104 developmental biology, Disease Progression, Surgery, Neurology (clinical), business, 030217 neurology & neurosurgery
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15
المصدر: Brain and Development. 38:755-758
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, Movement, Video Recording, Severity of Illness Index, Pantothenate kinase-associated neurodegeneration, Diagnosis, Differential, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Humans, Medicine, Spasticity, Cognitive decline, Pantothenate Kinase-Associated Neurodegeneration, Dystonia, business.industry, Neurodegeneration, Brain, General Medicine, PANK2, medicine.disease, nervous system diseases, Surgery, Phosphotransferases (Alcohol Group Acceptor), 030104 developmental biology, Pediatrics, Perinatology and Child Health, Etiology, Neurology (clinical), medicine.symptom, Differential diagnosis, business, 030217 neurology & neurosurgery, Follow-Up Studies
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المصدر: Česká a slovenská neurologie a neurochirurgie. :343-345
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Mutation (genetic algorithm), Medicine, Surgery, Neurology (clinical), Differential diagnosis, business, HEXB
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17
المؤلفون: Asuman Ali, Nejla Sozer, Sevcan Mercan, Nihan Hande Akçakaya, Ugur Ozbek, Zuhal Yapici, Sibel Aylin Ugur Iseri, Garen Haryanyan, Temel Tombul
المساهمون: Acibadem University Dspace
مصطلحات موضوعية: Adult, spastic paraplegia, Turkey, C19orf12, Neurodegeneration with brain iron accumulation, Hereditary spastic paraplegia, SPG43, Bioinformatics, Mitochondrial Proteins, 03 medical and health sciences, Rare Diseases, 0302 clinical medicine, medicine, HSP, Humans, Dementia, 030212 general & internal medicine, Spasticity, Dystonia, business.industry, Parkinsonism, medicine.disease, MPAN, nervous system diseases, Phenotype, iron accumulation, Mutation, Surgery, Neurology (clinical), Differential diagnosis, Age of onset, medicine.symptom, business, 030217 neurology & neurosurgery
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18
المؤلفون: Feyza Nur Tuncer, Zuhal Yapici, Meryem Karaca, Mustafa Calik, Mahmut Demir, Sibel Aylin Ugur Iseri
المصدر: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 39(12)
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Pathology, Neurology, Genetic counseling, Dermatology, Consanguinity, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Fatal Outcome, medicine, Humans, Family, Genetic testing, Sanger sequencing, medicine.diagnostic_test, business.industry, Galactocerebrosidase, Leukodystrophy, Homozygote, Brain, Infant, General Medicine, medicine.disease, Leukodystrophy, Globoid Cell, Psychiatry and Mental health, 030104 developmental biology, Mutation, Krabbe disease, symbols, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Galactosylceramidase
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19
المؤلفون: Kader Karli Oguz, Başar Bilgiç, Esra Serdaroglu, Hasmet Hanagasi, Ugur Ozbek, Hakan Gurvit, Dilek Yalnizoglu, Sibel Aylin Ugur Iseri, Mahmut Şamil Sağıroğlu, Didem Yücel-Yılmaz, Emrah Yücesan, Sevim Erdem, Rıza Köksal Özgül, Ali Dursun
المساهمون: YÜCESAN, EMRAH
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Ataxia, Adolescent, Hereditary spastic paraplegia, Kinesins, Gene mutation, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Developmental Neuroscience, Neuroimaging, Medicine, Humans, Family, Gene, Exome sequencing, Pyramidal tracts, business.industry, Spastic Paraplegia, Hereditary, Brain, General Medicine, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Phenotype, Spinal Cord, Pediatrics, Perinatology and Child Health, Mutation, Disease Progression, Female, Neurology (clinical), medicine.symptom, Differential diagnosis, business, 030217 neurology & neurosurgery
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20
المؤلفون: Yesim Kesim, Gunes Altiokka Uzun, Emrah Yücesan, Ozkan Ozdemir, Ugur Ozbek, Sibel Aylin Ugur Iseri, Betül Baykan, Feyza Nur Tuncer, Nerses Bebek
المساهمون: YÜCESAN, EMRAH
المصدر: Epilepsy Research. 120:73-78
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Turkey, Aura, Genetic counseling, DNA Mutational Analysis, Molecular Sequence Data, Audiology, Electroencephalography, Gene mutation, Temporal lobe, Cohort Studies, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, medicine, Humans, Missense mutation, Amino Acid Sequence, Genetic Testing, Genetic testing, Sequence Homology, Amino Acid, medicine.diagnostic_test, Intracellular Signaling Peptides and Proteins, Proteins, medicine.disease, 030104 developmental biology, Epilepsy, Temporal Lobe, Neurology, Mutation, Female, Neurology (clinical), Psychology, 030217 neurology & neurosurgery
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