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1دورية أكاديمية
المؤلفون: Rezvan Abtahi, Parvaneh Karimzadeh, Omid Aryani, Diba Akbarzadeh, Shadab Salehpour, Alireza Rezayi, Seyed Hassan Tonekaboni, Reza Zolfaghari Emameh, Massoud Houshmand
المصدر: Hereditas, Vol 159, Iss 1, Pp 1-11 (2022)
مصطلحات موضوعية: Niemann-Pick C, Molecular Study, New Mutation, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1601-5223Test
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2دورية أكاديمية
المصدر: Acta Medica Iranica, Vol 56, Iss 10 (2019)
مصطلحات موضوعية: Dysequilibrium syndrome type 4, Case report, Whole exome sequencing, ATP8A2 gene, Iran, Medicine (General), R5-920
وصف الملف: electronic resource
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3دورية أكاديمية
المصدر: Iranian Journal of Medical Sciences, Vol 34, Iss 2, Pp 110-115 (2009)
مصطلحات موضوعية: Developmental delay, sodium valproate, rehabilitation, developmental quotient, electroencephalogram, Medicine (General), R5-920
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Sasan Saket, Atefeh Heidari, Alireza Zali, Mohammad Mehdi Nasehi, Mohammad Mehdi Taghdiri, Seyed Hassan Tonekaboni, Sohrab Shahzadi, Yalda Nilipour, Hamed Javadian
مصطلحات موضوعية: CNS Tumor, Children, Neuropathology, Neuroradiology
العلاقة: https://zenodo.org/record/5810841Test; https://doi.org/10.5281/zenodo.5810841Test; oai:zenodo.org:5810841
الإتاحة: https://doi.org/10.5281/zenodo.5810841Test
https://doi.org/10.5281/zenodo.5810840Test
https://zenodo.org/record/5810841Test -
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المؤلفون: Parvaneh Karimzadeh, Hossein Najmabadi, Hanns Lochmuller, Marzieh Babaee, Shima Dehdahsi, Mohammad Miryounesi, Susan Amirsalari, Seyed Mansoor Rayegani, Seyed Hassan Tonekaboni
المصدر: Neuromuscular Disorders. 32:806-810
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4f18859aeea450f80d1e685fd96ffa27Test
https://doi.org/10.1016/j.nmd.2022.08.002Test -
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المؤلفون: Neda Sadeghi, Mohammad Taghi Joghataei, Ali Shahbazi, Seyed Hassan Tonekaboni, Hale Akrami, Mohammad Ali Nazari
المصدر: Experimental Brain Research. 240:2311-2326
مصطلحات موضوعية: Hand Strength, Cerebral Palsy, General Neuroscience, Humans, Hemiplegia, Evoked Potentials, Functional Laterality, Psychomotor Performance
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6df3b23a3beb60a5a8cce0e4ad3103c7Test
https://doi.org/10.1007/s00221-022-06425-4Test -
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المؤلفون: Mohammad-Reza Ghasemi, Hossein Sadeghi, Farzad Hashemi-Gorji, Reza Mirfakhraie, Vijay Gupta, Afif Ben-Mahmoud, Katayoon Razjouyan, Shadab Salehpour, Seyed Hassan Tonekaboni, Mehdi Dianatpour, Davood Omrani, Lawrence C. Layman, Hyung-Goo Kim, Mohammad Miryounesi
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5c7057bedfe4199b038603c56cbf3952Test
https://doi.org/10.21203/rs.3.rs-1411351/v1Test -
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المؤلفون: Rezvan Abtahi, Parvaneh Karimzadeh, Omid Aryani, Diba Akbarzadeh, Shadab Salehpour, Alireza Rezayi, Seyed Hassan Tonekaboni, Reza Zolfaghari Emameh, Massoud Houshmand
المصدر: Hereditas
Hereditas, Vol 159, Iss 1, Pp 1-11 (2022)مصطلحات موضوعية: Molecular Study, New Mutation, Research, Computational Biology, Niemann-Pick Disease, Type C, General Medicine, Exons, QH426-470, Iran, Niemann-Pick C1 Protein, Niemann-Pick C, Mutation, Genetics, Humans
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac315a745c484672117b387471950710Test
https://pubmed.ncbi.nlm.nih.gov/35086560Test -
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المؤلفون: Diba Akbarzadeh, Seyed Hassan Tonekaboni, Rezvan Abtahi, Reza Zolfaghari Emameh, Parvaneh Karimzadeh, Shadab Salehpour, Massoud Houshmand, Alireza Rezayi
المصدر: Journal of molecular neuroscience : MN. 72(3)
مصطلحات موضوعية: Genetics, Heterozygote, Tay-Sachs Disease, beta-Hexosaminidase alpha Chain, Genotype, beta-Hexosaminidase beta Chain, General Medicine, Disease, Exons, Gene mutation, Sandhoff disease, Biology, Iran, medicine.disease, HEXB, Cellular and Molecular Neuroscience, Sphingomyelin Phosphodiesterase, Sphingolipidoses, Mutation, medicine, Humans, Sphingolipidosis, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61e9b1ec2f684fe31204771326b326ceTest
https://pubmed.ncbi.nlm.nih.gov/34554397Test -
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المؤلفون: Mahbobeh Mesdaghi, Zahra Chavoshzadeh, Seyed Hassan Tonekaboni, Reza Shiari, Leila Ghasemi, Vadood Javadi Parvaneh, Khosro Rahmani
المصدر: Autoimmunity Highlights
مصطلحات موضوعية: medicine.medical_specialty, Proteinuria, Cyclophosphamide, Anti-nuclear antibody, Angioedema, business.industry, Immunology, Myelitis, Heterozygote advantage, chemical and pharmacologic phenomena, Case Report, medicine.disease, Dermatology, Rheumatology, immune system diseases, Medicine, medicine.symptom, business, Malar rash, skin and connective tissue diseases, Exome sequencing, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2707cb6e213f9f859edd6df2372c30f5Test
http://europepmc.org/articles/PMC7322911Test