المؤلفون: Munevver Celik Gokyigit, Hakan Ekmekci, Hacer Durmus, Necdet Karll, Emel Koseoglu, Fikret Aysal, Kotan Dündar, Dilcan, Asuman Ali, Pinar Kahraman Koytak, Hatice Karasoy, Aylin Yaman, Ihsan Sukru Sengun, Refah Sayin, Bedile Irem Tiftikcioglu, Aysun Soysal, Kemal Tutkavul, Ayse Oytun Bayrak, Aysin Kisabay, Mehmet Ali Elci, Vildan Yayla, Ibrahim Arda Yilmaz, Sevim Erdem Ozdamar, Cagdas Erdogan, Nebahat Tasdemir, Piraye Serdaroglu Oflazer

المساهمون: Gokyigit, MC, Ekmekci, H, Durmus, H, Karll, N, Koseoglu, E, Aysal, F, Kotan, D, Ali, A, Koytak, PK, Karasoy, H, Yaman, A, Sengun, IS, Sayin, R, Tiftikcioglu, BI, Soysal, A, Tutkavul, K, Bayrak, AO, Kisabay, A, Elci, MA, Yayla, V, Yilmaz, IA, Ozdamar, SE, Erdogan, C, Tasdemir, N, Oflazer, PS, Sakarya Üniversitesi/Tıp Fakültesi/Dahili Tıp Bilimleri Bölümü, Kotan Dündar, Dilcan

مصطلحات موضوعية: Neurosciences & Neurology

العلاقة: NEUROMUSCULAR DISORDERS; Gokyigit, MC; Ekmekci, H; Durmus, H; Karll, N; Koseoglu, E; Aysal, F; Kotan, D; Ali, A; Koytak, PK; Karasoy, H; Yaman, A; Sengun, IS; Sayin, R; Tiftikcioglu, BI; Soysal, A; Tutkavul, K; Bayrak, AO; Kisabay, A; Elci, MA; Yayla, V; Yilmaz, IA; Ozdamar, SE; Erdogan, C; Tasdemir, N; Oflazer, PS; (2018). A database for screening and registering late onset Pompe disease in Turkey. NEUROMUSCULAR DISORDERS, 28, 267-262; https://doi.org/10.1016/j.nmd.2017.12.008Test; https://hdl.handle.net/20.500.12619/65985Test; 28; 262; 267; WOS:000430763800010

الإتاحة: https://doi.org/20.500.12619/65985Test
https://doi.org/10.1016/j.nmd.2017.12.008Test
https://hdl.handle.net/20.500.12619/65985Test

المؤلفون: Duran Ustek, Zeliha Gormez, Yesim Parman, Özlem Gelişin, Piraye Serdaroglu-Oflazer, Oğuz Öztürk, Can Ebru Bekircan-Kurt, Urs Giger, Guldal Inal-Gultekin, Ersin Tan, Bahar Toptaş-Hekimoğlu, Sadrettin Pence, Bekir Ergüner, Mahmut Şamil Sağıroğlu, Sevim Erdem-Ozdamar, Hulya Yilmaz-Aydogan, Hacer Durmus, Hüseyin Demirci, Feza Deymeer

المساهمون: Nöroloji

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Turkey, Genomics, Biology, medicine.disease_cause, Article, DNA sequencing, Cohort Studies, Young Adult, 03 medical and health sciences, symbols.namesake, medicine, Humans, Missense mutation, Family, Genetic Testing, Geography, Medical, Child, Gene, Genetics (clinical), Aged, Genetics, Sanger sequencing, Mutation, High-Throughput Nucleotide Sequencing, Middle Aged, Pedigree, 030104 developmental biology, Neurology, Myophosphorylase, Pediatrics, Perinatology and Child Health, symbols, Glycogen Phosphorylase, Muscle Form, Glycogen Storage Disease Type V, Population study, Female, Neurology (clinical), Neurosciences & Neurology

وصف الملف: text/plain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::835d60d12714bb5066e3546c6b28ed75Test
http://hdl.handle.net/11655/15706Test