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1دورية أكاديمية
المؤلفون: Elmira Mamytova, Asel Jusupova, Anara Toktomametova, Kunduz Karbozova, Begimay Kadyrova, Yethindra Vityala, Tugolbai Tagaev
المصدر: Clinical Case Reports, Vol 11, Iss 3, Pp n/a-n/a (2023)
مصطلحات موضوعية: arthrodesis, auto‐amputation, electromyography, fistula, hereditary sensory and autonomic neuropathy, osteomyelitis, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2050-0904Test
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2دورية أكاديمية
المؤلفون: Karim Elhennawy, Seif Reda, Christian Finke, Luitgard Graul-Neumann, Paul-Georg Jost-Brinkmann, Theodosia Bartzela
المصدر: Journal of Medical Case Reports, Vol 11, Iss 1, Pp 1-11 (2017)
مصطلحات موضوعية: Case report, Dental, PRDM12 gene, Hereditary sensory and autonomic neuropathy, HSAN-VIII, Oral manifestations, Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13256-017-1387-zTest; https://doaj.org/toc/1752-1947Test
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3دورية أكاديمية
المؤلفون: Marta Chaverra, Lynn George, Marc Mergy, Hannah Waller, Katharine Kujawa, Connor Murnion, Ezekiel Sharples, Julian Thorne, Nathaniel Podgajny, Andrea Grindeland, Yumi Ueki, Steven Eiger, Cassie Cusick, A. Michael Babcock, George A. Carlson, Frances Lefcort
المصدر: Disease Models & Mechanisms, Vol 10, Iss 5, Pp 605-618 (2017)
مصطلحات موضوعية: Familial dysautonomia, Elongator, Hereditary sensory and autonomic neuropathy, Medicine, Pathology, RB1-214
وصف الملف: electronic resource
العلاقة: http://dmm.biologists.org/content/10/5/605Test; https://doaj.org/toc/1754-8403Test; https://doaj.org/toc/1754-8411Test
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المؤلفون: Sandeep Arora, Aradhana Rout, Sudeep Kumar, Shamsher Singh Dalal
المصدر: Indian Journal of Paediatric Dermatology, Vol 22, Iss 3, Pp 260-263 (2021)
مصطلحات موضوعية: compensatory hyperhidrosis, self-mutilation, medicine.medical_specialty, Autonomic nerve, business.industry, Compensatory hyperhidrosis, Dermatology, medicine.disease, anhidrosis, Pediatrics, RJ1-570, Congenital insensitivity to pain with anhidrosis, RL1-803, Hereditary sensory and autonomic neuropathy, medicine, hereditary sensory and autonomic neuropathy, SCN9A Gene, Anhidrosis, medicine.symptom, business, congenital insensitivity to pain, Exome sequencing, Congenital insensitivity to pain
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae59c00d2d45cbcaea64fae75f489297Test
http://www.ijpd.in/article.asp?issn=2319-7250;year=2021;volume=22;issue=3;spage=260;epage=263;aulast=RoutTest -
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المؤلفون: Rodrigo Gutierrez-Quintana, Annette Wessmann, Cathryn S. Mellersh, Louise M. Burmeister, Maria Ortega, Eleanor Freeman, Jacques Penderis, Lynn Stevenson, Samuel Sharpe
المساهمون: Gutierrez-Quintana, Rodrigo [0000-0002-3570-2542], Wessmann, Annette [0000-0002-1401-3318], Apollo - University of Cambridge Repository
المصدر: Journal of Veterinary Internal Medicine, Vol 35, Iss 5, Pp 2306-2314 (2021)
Journal of Veterinary Internal Medicineمصطلحات موضوعية: Pathology, medicine.medical_specialty, Heterozygote, Neurology, Veterinary medicine, Reticulophagy, Mutation, Missense, canine, Standard Article, Dogs, peripheral nervous system, Hereditary sensory and autonomic neuropathy, SF600-1100, Medicine, Missense mutation, Animals, genetics, Dog Diseases, Hereditary Sensory and Autonomic Neuropathies, Whole genome sequencing, General Veterinary, Whole Genome Sequencing, business.industry, neurology, Homozygote, medicine.disease, Breed, Standard Articles, medicine.anatomical_structure, Peripheral nervous system, Immunohistochemistry, SMALL ANIMAL, business, electrodiagnostics
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78aaba2fe34541096c793f43332dec82Test
https://doaj.org/article/3e04c9c0772e409182f18cc7d36190c6Test -
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المؤلفون: C. Geoffrey Woods, Ingo Kurth, James J. Cox
المساهمون: Woods, Geoff [0000-0002-8077-2101], Apollo - University of Cambridge Repository
المصدر: Medizinische Genetik. 32:233-241
مصطلحات موضوعية: small fiber neuropathy, business.industry, Sodium channel, Sensory system, medicine.disease, Peripheral, Anesthesia, Hereditary sensory and autonomic neuropathy, Genetics, hereditary sensory and autonomic neuropathy, Medicine, Small Fiber Neuropathy, business, congenital insensitivity to pain, sodium channels, Genetics (clinical), Congenital insensitivity to pain
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0e36ad579774f2a69db4675726eddb1Test
https://doi.org/10.1515/medgen-2020-2039Test -
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المؤلفون: Junling Wang, Wanqian Cao, Zhengmao Hu, Jifeng Guo, Lei Liu, Siwei Huang, Zhiqiang Lin, Huadong Zhao, Binghao Wang, Ruxu Zhang, Mengli Wang, Hong Jiang, Bei-Sha Tang, Xiaobo Li, Xiying Zhu, Shunxiang Huang, Lu Li, Honglan Yang, Lu Shen, Stephan Züchner, Sen Zeng, Yongzhi Xie
المصدر: European Journal of Neurology. 28:3774-3783
مصطلحات موضوعية: China, medicine.medical_specialty, Genotype, business.industry, medicine.disease, DNA-Binding Proteins, Phenotype, Genotype-phenotype distinction, Neurology, Charcot-Marie-Tooth Disease, Internal medicine, SH3TC2, Gene duplication, Hereditary sensory and autonomic neuropathy, Humans, Medicine, Missense mutation, Neurology (clinical), SPTLC1, Apoptosis Regulatory Proteins, business, Exome sequencing, Adaptor Proteins, Signal Transducing, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80d15321796ba2c51eb2f8e35475565aTest
https://doi.org/10.1111/ene.15024Test -
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المؤلفون: Philippe Corcia, Julien Cassereau, Pascal Reynier
المصدر: Trends in Endocrinology & Metabolism. 32:839-841
مصطلحات موضوعية: Sphingolipids, Messenger RNA, business.industry, Endocrinology, Diabetes and Metabolism, Amyotrophic Lateral Sclerosis, Mutant allele, medicine.disease, Sphingolipid biosynthesis, Sphingolipid, Endocrinology, Hereditary sensory and autonomic neuropathy, SPTLC1 Gene, Cancer research, Humans, Medicine, Personalized medicine, Hereditary Sensory and Autonomic Neuropathies, Precision Medicine, Amyotrophic lateral sclerosis, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5368db4d213faf0938ed412baa052f0Test
https://doi.org/10.1016/j.tem.2021.07.002Test -
9دورية أكاديمية
المؤلفون: Abel Ramírez-Estudillo, Gerardo González-Saldivar, Itzel Espinosa-Soto, Jesús González-Cortez, Alejandro Salcido-Montenegro
المصدر: Journal of Clinical and Diagnostic Research, Vol 11, Iss 7, Pp ND01-ND02 (2017)
مصطلحات موضوعية: dysautonomia, familial, hereditary-sensory and autonomic neuropathy type iii, Medicine
وصف الملف: electronic resource
العلاقة: https://jcdr.net/articles/PDF/10152/25584_CETest[Ra1]_F(SS)_PF1(RU_VT_NE)_PFA(NE_SS).pdf; https://doaj.org/toc/2249-782XTest; https://doaj.org/toc/0973-709XTest
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المؤلفون: Shoji Tsuji, Tatsuo Mano, Toshihiro Hayashi, Hiroyuki Ishiura, Shotaro Karino, Yaeko Ichikawa, Yu Nagashima, Jun Goto, Yuji Takahashi, Takashi Matsukawa, Takashi Kanbayashi, Jun Shimizu, Jun Ichi Kira, Junko Kanda Kikuchi
المصدر: Journal of Molecular Neuroscience. 71:1796-1801
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pathology, Neurology, Cerebellar ataxia, urogenital system, business.industry, General Medicine, medicine.disease, environment and public health, Phenotype, 03 medical and health sciences, Cellular and Molecular Neuroscience, 030104 developmental biology, 0302 clinical medicine, Peripheral neuropathy, Autosomal dominant cerebellar ataxia, embryonic structures, Hereditary sensory and autonomic neuropathy, medicine, Neurochemistry, medicine.symptom, business, 030217 neurology & neurosurgery, Narcolepsy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e58f02440e7f80069f06e01e5f471bb5Test
https://doi.org/10.1007/s12031-020-01784-5Test