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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 -
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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 -
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المؤلفون: Joseph M. Lam, Saud Alobaida
المصدر: Pediatric Dermatology. 38:213-216
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Horner syndrome, Dermatology, Disease, Riga–Fede disease, medicine.disease, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Harlequin syndrome, Congenital insensitivity to pain with anhidrosis, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Hereditary sensory and autonomic neuropathy, Medicine, Traumatic alopecia, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0048f5d5cb079bc2c3ae2b24e8879ec2Test
https://doi.org/10.1111/pde.14385Test -
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المصدر: Journal of the Peripheral Nervous System. 24:224-229
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Mutation, business.industry, Upper motor neuron, General Neuroscience, Motor conduction block, medicine.disease, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Depigmentation, medicine.anatomical_structure, Hereditary sensory and autonomic neuropathy type I, 030220 oncology & carcinogenesis, Hereditary sensory and autonomic neuropathy, Retinal telangiectasias, Medicine, Neurology (clinical), medicine.symptom, SPTLC1, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2926ac9faa403d623b7bd1eb36775208Test
https://doi.org/10.1111/jns.12315Test -
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المؤلفون: Henk Giele, Michelle Spiteri, Thomas Azzopardi, Maximillian Mifsud
المصدر: Hand (N Y)
مصطلحات موضوعية: Wrist Joint, medicine.medical_specialty, Pain Insensitivity, Congenital, medicine.medical_treatment, Wrist, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Hereditary sensory and autonomic neuropathy, medicine, Humans, Orthopedics and Sports Medicine, Hereditary Sensory and Autonomic Neuropathies, Anhidrosis, Child, Surgery Articles, Hypohidrosis, Proprioception, business.industry, Osteomyelitis, medicine.disease, Surgery, medicine.anatomical_structure, Amputation, medicine.symptom, business, Interphalangeal Joint, 030217 neurology & neurosurgery, Congenital insensitivity to pain
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f84e1860f3e8c9b4b58cbf544267d902Test
https://doi.org/10.1177/1558944720906556Test -
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المؤلفون: John B. Vincent, Ricardo Harripaul, Matloob Azam, Stephen Pastore
المصدر: Journal of Human Genetics. 65:493-496
مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, 030105 genetics & heredity, Biology, medicine.disease, medicine.disease_cause, 3. Good health, 03 medical and health sciences, Exon, 030104 developmental biology, Hereditary sensory and autonomic neuropathy, medicine, Allele, Congenital Pain Insensitivity, Genotyping, Genetics (clinical), Exome sequencing, Congenital insensitivity to pain
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fcb8b7f5521ff51d435081b3baf204a7Test
https://doi.org/10.1038/s10038-020-0734-xTest -
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المؤلفون: Benoît Kornmann, Howard Riezman, Agnès H. Michel, J. Thomas Hannich, A. Galih Haribowo, Maya Schuldiner, Márton Megyeri
المصدر: Molecular Biology of the Cell, Vol. 30, No 22 (2019) pp. 2814-2826
مصطلحات موضوعية: 0303 health sciences, Programmed cell death, biology, Saccharomyces cerevisiae, Cell, Cell Biology, medicine.disease, biology.organism_classification, 3. Good health, Cell biology, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, ddc:540, Hereditary sensory and autonomic neuropathy, Lipidomics, medicine, Cytotoxicity, Molecular Biology, 030217 neurology & neurosurgery, Deoxysphingolipid, 030304 developmental biology, Genetic screen
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dff2e84d3b3c6be58b2a63542372b105Test
https://doi.org/10.1091/mbc.e19-07-0364Test -
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المؤلفون: Eyad M. Bintareef, Mohammed ALBashtawy, Omar M. Hanatleh, Samah K. Aburahma, Ali M. Ibnian, Abdullah Alkhawaldeh, Noran K. Kofahi
المصدر: The American Journal of Case Reports
مصطلحات موضوعية: medicine.medical_specialty, Pain Insensitivity, Congenital, media_common.quotation_subject, Pain, Context (language use), NTRK1 Protein, Human, Congenital insensitivity to pain with anhidrosis, Hereditary sensory and autonomic neuropathy, medicine, Humans, Receptor, trkA, Hereditary Sensory and Autonomic Neuropathies, Anhidrosis, Child, media_common, Hypohidrosis, Daughter, Wound dehiscence, business.industry, Articles, General Medicine, medicine.disease, Arabs, Surgery, Child, Preschool, Orthopedic surgery, Manipulation, Orthopedic, Female, medicine.symptom, business, Congenital insensitivity to pain
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5d298aebe7d4aa7bb5276c4c72fdc90Test
https://doi.org/10.12659/ajcr.933486Test