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المؤلفون: Arman Çakar, Meltem İnci, Ayşe Nur Özdağ Acarlı, Sinan Çomu, Ayşe Candayan, Esra Battaloğlu, Şeyma Tekgül, Ayşe Nazlı Başak, Hacer Durmuş, Yeşim Parman
المصدر: Acta neurologica ScandinavicaREFERENCES. 145(5)
مصطلحات موضوعية: Male, Neurology, Muscle Spasticity, Mutation, Humans, Spinocerebellar Ataxias, Neurology (clinical), General Medicine, Heat-Shock Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cf54dbd443505c9f280788058045608Test
https://pubmed.ncbi.nlm.nih.gov/35130357Test -
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المؤلفون: null Arman Çakar, null Meltem İnci, null Ayşe Nur Özdağ Acarlı, null Sinan Çomu, null Ayşe Candayan, null Esra Battaloğlu, null Şeyma Tekgül, null Ayşe Nazlı Başak, null Hacer Durmuş, null Yeşim Parman
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::012a0b25709cb5e9635ac8db51dd7d3eTest
https://doi.org/10.1111/ane.13592/v2/response1Test -
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المؤلفون: Ayşe Nazlı Başak, Şeyma Tekgül, Didem Tezen, Gülçin Benbir Şenel, Hulya Apaydin
المصدر: Turkiye Klinikleri Journal of Case Reports. 28:283-287
مصطلحات موضوعية: Genetics, Turkish, Paroxysmal kinesigenic choreoathetosis, medicine, biology.protein, language, ABCC6, Biology, Pseudoxanthoma elasticum, medicine.disease, Gene, PRRT2, language.human_language
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4806994bd413d865b55591b84766b085Test
https://doi.org/10.5336/caserep.2020-75076Test -
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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: Turgut Sahin, Rezzak Yilmaz, Ayşe Nazlı Başak, Fatma Tugra Karaarslan, Muhittin Cenk Akbostanci, Şeyma Tekgül
المصدر: Clinical neurology and neurosurgery. 201
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, business.industry, Brain, General Medicine, Pedigree, Optic Atrophy, Muscle Spasticity, Intellectual Disability, Mutation, medicine, Humans, Spinocerebellar Ataxias, Surgery, Neurology (clinical), Spastic ataxia, business, Exome sequencing, Early onset
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9e7785a33cdc4dc01b7210bd170d427Test
https://pubmed.ncbi.nlm.nih.gov/33348119Test