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1دورية أكاديميةOphthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2
المصدر: Türk Nöroloji Dergisi, Vol 28, Iss 1, Pp 57-58 (2022)
مصطلحات موضوعية: electroretinogram, visual evoked potential, spastic ataxia type 8, nkx6-2 gene mutation, Medicine, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjn&un=TJN-00483Test; https://doaj.org/toc/1309-2545Test
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المؤلفون: Didem Tezen, Gülşah Şimşir, Özlem Çokar, Veysi Demirbilek, A. Nazlı Başak, Zuhal Yapıcı
المصدر: Parkinsonismrelated disorders. 105
مصطلحات موضوعية: Hyperekplexia, Neurology, Turkey, Homozygote, Mutation, Missense, Humans, Neurology (clinical), Exons, Geriatrics and Gerontology, Sequence Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2da1753c2aebaa05ce95b5e732698e1Test
https://pubmed.ncbi.nlm.nih.gov/36434917Test -
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المؤلفون: A. Nazli Basak, Ahmed S. Emekli, Hasmet Hanagasi, Başar Bilgiç, Hakan Gurvit, Bedia Samanci, Gülşah Şimşir
المصدر: Neurological Sciences. 42:1535-1539
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Mutation, medicine.medical_specialty, Ataxia, Neurology, business.industry, Dermatology, General Medicine, Disease, Gene mutation, medicine.disease_cause, medicine.disease, Bioinformatics, Holmes tremor, 03 medical and health sciences, Psychiatry and Mental health, 0302 clinical medicine, Hypogonadotropic hypogonadism, medicine, 030212 general & internal medicine, Neurology (clinical), medicine.symptom, Differential diagnosis, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e8ae9c3ee09dcc4288d2f87bbd195e34Test
https://doi.org/10.1007/s10072-020-04869-6Test -
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المؤلفون: Robin Palvadeau, Atay Vural, Sibel Ertan, M S Aygün, Gülşah Şimşir, Gençer Genç, A. Nazli Basak, Z E Kaya-Güleç, Okan Falay, Ö Öztop-Çakmak
المصدر: neurogenetics. 21:51-58
مصطلحات موضوعية: 0301 basic medicine, Dystonia, Ataxia, business.industry, Chorea, medicine.disease, Apraxia, Palilalia, 03 medical and health sciences, Cellular and Molecular Neuroscience, 030104 developmental biology, 0302 clinical medicine, Cerebellar cognitive affective syndrome, Genetics, medicine, Spinocerebellar ataxia, medicine.symptom, business, Neuroscience, 030217 neurology & neurosurgery, Genetics (clinical), Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::adbccc68da0ae0c51ee38dcb25439b81Test
https://doi.org/10.1007/s10048-019-00595-0Test -
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المؤلفون: Gülşah Şimşir, Muhammet Ensar Dogan, Ayşe Nazlı Başak, Murat Gultekin
مصطلحات موضوعية: Genetics, Glucose Transporter Type 1, Movement disorders, Ataxia, Epilepsy, Movement Disorders, business.industry, Paroxysmal exercise-induced dystonia, Dermatology, General Medicine, Focal dystonia, medicine.disease, Psychiatry and Mental health, Phenotype, Dyskinesia, Chorea, Mutation (genetic algorithm), Mutation, medicine, Humans, Neurology (clinical), medicine.symptom, business, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7915d11fe5354f92d805031055918449Test
https://avesis.erciyes.edu.tr/publication/details/f9b3d7f8-7cb2-41de-8204-d4048a611ff7/oaiTest -
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المؤلفون: Mefkure Eraksoy, Onder Us, Sibel Ertan, Hacer Durmus, Filiz Koç, Nazan Saner, Şeyma Tekgül, Pinar Tekturk, Cemile Kocoglu, Gençer Genç, Robin Palvadeau, Feza Deymeer, Güneş Kızıltan, Ece Kartal, Hulya Apaydin, Sevda Erer Özbek, Cenk Akbostanci, Suna Lahut, Yesim Parman, Erdi Şahin, Dilcan Kotan, Hülya Tireli, Murat Gultekin, Zeynep Özözen Ayas, Ersin Tan, Sibel Özekmekçi, Irmak Şahbaz, Hamit Acer, Zeynep Tufekcioglu, Dilek Ince Gunal, Hasmet Hanagasi, İhsan Şükrü Şengün, Arman Çakar, Esen Saka Topcuoglu, Gülşah Şimşir, Gülden Akdal, Elif Bayraktar, Fulya Akçimen, Ayşe Bora Tokçaer, Aysegul Gunduz, Uluç Yiş, Gul Serdaroglu, Atay Vural, Ayse Altintas, Hüseyin A. Şahin, Özgür Ömür, Tuğçe Gül, Gül Demet Kaya Özçora, Müge Kovancılar Koç, Vildan Yayla, Aksel Siva, Semra Hiz, Meral Topçu, Piraye Oflazer, Başar Bilgiç, M. Osman Çorbalı, Semiha Kurt, Elçin Bora, Nesli E. Şen, Kadriye Agan, A. Nazli Basak, Halil Güllüoğlu, Ceren Tunca, Sefer Kumandaş, Muhsin Elmas, Özgür Öztop Çakmak, Bulent Elibol, Aysun Soysal, Zeynep E. Kaya Gulec, Caroline Pirkevi Çetinkaya, Dürdane Aksoy, Aslı Gündoğdu Eken
المساهمون: Ege Üniversitesi, Elmas, Muhsin
مصطلحات موضوعية: 0301 basic medicine, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Turkey, Consanguinity, 03 medical and health sciences, symbols.namesake, Wholeexome sequencing, 0302 clinical medicine, medicine, Genetics, Humans, Spinocerebellar Ataxias, genetics, Exome sequencing, Spinocerebellar Degenerations, Sanger sequencing, biology, ataxia, medicine.disease, Optic Atrophy, 030104 developmental biology, Neurology, Muscle Spasticity, whole‐, Spinocerebellar ataxia, symbols, Frataxin, biology.protein, Neurology (clinical), medicine.symptom, Heterogeneity, heterogeneity, Trinucleotide repeat expansion, exome sequencing, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bd268a54a7c084aa9507fb520b75a7dTest
https://avesis.gazi.edu.tr/publication/details/dc537293-2ef2-4fdc-932d-c75876075839/oaiTest -
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المؤلفون: Ahmed S, Emekli, Bedia, Samanci, Gülşah, Şimşir, Hasmet A, Hanagasi, Hakan, Gürvit, Başar, Bilgiç, A Nazlı, Başak
المصدر: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 42(4)
مصطلحات موضوعية: Optic Atrophy, Muscle Spasticity, Phospholipases, Hypogonadism, Intellectual Disability, Mutation, Tremor, Humans, Spinocerebellar Ataxias, Ataxia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::5e2f08b3294f3e5d1c140a6fde398ab6Test
https://pubmed.ncbi.nlm.nih.gov/33210227Test