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1
المؤلفون: Aida Bushati, Jera Kruja, Aferdita Tako, Anila Babameto
المصدر: Journal of the Neurological Sciences. 429:118273
مصطلحات موضوعية: Genetics, Neurology, business.industry, New mutation, Bethlem myopathy, Medicine, Neurology (clinical), business, medicine.disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::831a4702582763110a1e9e8e8838fcb9Test
https://doi.org/10.1016/j.jns.2021.118273Test -
2
المؤلفون: J. Jaworski, K. Rejdak, L. Kotuła
المصدر: Journal of the Neurological Sciences. 405:20
مصطلحات موضوعية: Neurology, business.industry, New mutation, Medicine, Neurology (clinical), Bioinformatics, business, Gene, Exome, Infantile cerebral palsy, Genetic analysis, Dystonic movements
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::49563a5a36031f77d1841d16036195e5Test
https://doi.org/10.1016/j.jns.2019.10.1584Test -
3
المؤلفون: Carmen Entrala-Bernal, María Isabel Rodríguez Lucenilla, Francisco Javier Aguirre-Rodríguez, Maria Jesus Alvarez-Cubero, C. Mata, Francisco Fernandez-Rosado
المصدر: Journal of the Neurological Sciences. 357:332-334
مصطلحات موضوعية: Genetics, Spastic Paraplegia, Hereditary, business.industry, media_common.quotation_subject, Nonsense, medicine.disease, Mixed Function Oxygenases, Spastic Paraplegias, Neurology, Codon, Nonsense, Child, Preschool, Mutation (genetic algorithm), New mutation, medicine, Spastic, Humans, Female, Neurology (clinical), Girl, Paraplegia, business, media_common
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a356c7a3cf465ef43eda37d3cb496bbbTest
https://doi.org/10.1016/j.jns.2015.07.042Test -
4
المؤلفون: C. Eraslan, A. Durmaz, F. Bademkiran, S. Nalcaci
المصدر: Journal of the Neurological Sciences. 381:378-379
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Turkish, business.industry, Leukodystrophy, medicine.disease, language.human_language, Neurology, New mutation, Retinal vasculopathy, medicine, language, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::da4ea453938d5238fdee75c555c4618dTest
https://doi.org/10.1016/j.jns.2017.08.3284Test -
5
المؤلفون: Julie Soblet, Catheline Vilain, Guillaume Smits, Nicolas Deconinck, Alec Aeby, Lionel Paternoster
المصدر: Journal of the Neurological Sciences. 381:1136-1137
مصطلحات موضوعية: Genetics, biology, Cerebellar ataxia, 05 social sciences, 050105 experimental psychology, Disequilibrium syndrome, 03 medical and health sciences, 0302 clinical medicine, Neurology, Carbonic anhydrase, New mutation, biology.protein, medicine, 0501 psychology and cognitive sciences, Neurology (clinical), medicine.symptom, Gene, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0ad12da31875d55422ca3e6ee9a72a69Test
https://doi.org/10.1016/j.jns.2017.08.3200Test -
6
المؤلفون: Chon-Haw Tsai, Yu-Wan Yang, W.D. Lin, Yi Ting Hsu
المصدر: Journal of the Neurological Sciences. 381:154
مصطلحات موضوعية: Genetics, Variation (linguistics), Neurology, Neuromyotonia, New mutation, medicine, Neurology (clinical), Biology, medicine.disease, Gene, Phenotype
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::619b4a24b6572b7bc519b97327b3266fTest
https://doi.org/10.1016/j.jns.2017.08.453Test -
7
المؤلفون: A.M. Garcia Medina, I. Sanchez Ortuño, M.P. Salmeron Ato, A. Diaz Ortuño, N. Garcia Lax, J.M. Rodriguez Garcia, J.A. Motos Garcia, M. Palao Rico, A. Sanz Monllor, M.L. Martinez Navarro, J.A. Iniesta Valera, J. Marin Marin
المصدر: Journal of the Neurological Sciences. 357:e448
مصطلحات موضوعية: Genetics, Hereditary coproporphyria, Neurology, New mutation, medicine, Neurology (clinical), Biology, medicine.disease, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::71344f8fd304e3b637fd3932914a82aaTest
https://doi.org/10.1016/j.jns.2015.09.098Test -
8
المؤلفون: Yuji Okamoto, Esra Battaloglu, Davut Pehlivan, James R. Lupski, Zeliha Matur, K. Akyüz, Piraye Serdaroglu, Meryem Tuba Goksungur, Yesim Parman, Feza Deymeer
المصدر: Journal of the Neurological Sciences. 333:e478
مصطلحات موضوعية: Genetics, Neurology, New mutation, Neurology (clinical), Biology, Compound heterozygosity, NDRG1 Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e04597846a27c1f70f1478f1c7e15e46Test
https://doi.org/10.1016/j.jns.2013.07.1700Test -
9
المؤلفون: N. Elleuch, Amir Boukhris, I. Feki, F. Woimant, Mariem Damak, I. Bouchhima, E. Turki, P. Chappuis, M.I. Miladi, Chokri Mhiri
المصدر: Journal of the Neurological Sciences. 285:S266
مصطلحات موضوعية: Atp7b gene, Neurology, business.industry, New mutation, Medicine, Neurology (clinical), business, Bioinformatics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6f0092ac30363ec553cab58906d8277bTest
https://doi.org/10.1016/s0022-510xTest(09)71013-5