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المؤلفون: Jing Li, Pan Shen, Chao Chen, Gang Chen, Yanjing Huang, Yuan Nie, Shenghao Tu, Liang Han

المصدر: Medicine

مصطلحات موضوعية: Adult, Male, insertion mutation, Weakness, medicine.medical_specialty, medicine.disease_cause, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Peripheral myelin protein 22, Internal medicine, Dejerine–Sottas syndrome (DSS), medicine, Missense mutation, Humans, demyelinating diseases, Charcot–Marie–Tooth disease (CMT), 030212 general & internal medicine, Clinical Case Report, Sanger sequencing, Dystonia, Mutation, business.industry, whole-exome sequencing (WES), Sensory loss, General Medicine, medicine.disease, Muscle atrophy, Mutagenesis, Insertional, PMP22, 030220 oncology & carcinogenesis, symbols, medicine.symptom, business, Hereditary Sensory and Motor Neuropathy, Myelin Proteins, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98e225bcc1fbe17988df3951295c605d
https://pubmed.ncbi.nlm.nih.gov/33726003

المساهمون: Gebhart, Gerald F., editor^Aff1, Schmidt, Robert F., editor^Aff2

المصدر: Encyclopedia of Pain. :874-874

المؤلفون: Simonati, Alessandro, Fabrizi, Gian Maria, Taioli, Federica, Polo, Alberto, Cerini, Roberto, Rizzuto, Nicolò

المصدر: Journal of Neurology. September 2002 249(9):1298-1302

المساهمون: Rédei, George P.^Aff1

المصدر: Encyclopedia of Genetics, Genomics, Proteomics and Informatics. :484-484

المساهمون: Schmidt, Robert F., editor^{Aff_01_978-3-540-29805-2_}, Willis, William D., editor^{Aff_02_978-3-540-29805-2_}

المصدر: Encyclopedia of Pain. :532-532

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المؤلفون: Ashish Kumar Agrahari, C. George Priya Doss

المصدر: Journal of Theoretical Biology. 382:23-33

مصطلحات موضوعية: Statistics and Probability, Molecular model, In silico, Molecular Sequence Data, Mutant, Molecular Dynamics Simulation, Biology, Polymorphism, Single Nucleotide, Protein Structure, Secondary, General Biochemistry, Genetics and Molecular Biology, Homology (biology), DEJERINE-SOTTAS SYNDROME, Humans, Computer Simulation, Genetic Predisposition to Disease, Amino Acid Sequence, Gene, Conserved Sequence, Genetic Association Studies, Genetics, General Immunology and Microbiology, Applied Mathematics, Myelin protein zero, General Medicine, Amino Acid Substitution, Modeling and Simulation, Myelin sheath, Mutant Proteins, Hereditary Sensory and Motor Neuropathy, General Agricultural and Biological Sciences, Myelin P0 Protein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::095e6e7863d0dd78cd5b95ab5444aa1a
https://doi.org/10.1016/j.jtbi.2015.06.019

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المؤلفون: O. Walusinski

المصدر: Revue neurologique. 175(5)

مصطلحات موضوعية: Paris, Eponyms, Philosophy, Eponym, History, 19th Century, History, 20th Century, DEJERINE-SOTTAS NEUROPATHY, DEJERINE-SOTTAS SYNDROME, 03 medical and health sciences, 0302 clinical medicine, Neurology, 030212 general & internal medicine, Neurology (clinical), Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery, Classics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f95927e7a16bd5f5f40a9a8aca95b3a
https://pubmed.ncbi.nlm.nih.gov/30922590