المؤلفون: Christoph Maier, Roman Rolke, Janne Gierthmühlen, Ingolf Cascorbi, Thomas R. Tölle, Dilara Kersebaum, Sophie-Charlotte Fabig, Rolf-Detlef Treede, Henrike Bruckmueller, Achim Berthele, Christian Maihöfner, Stefanie Rehm, Claudia Sommer, Carolin Diesch, Amke Caliebe, Julia Forstenpointner, Jan Vollert, Volker Huge, Walter Magerl, Andrea Westermann, Andreas Binder, Susanne Stemmler, Herta Flor, Denisa May, Judith Koetting, Juliane Sachau, Ralf Baron

المصدر: European journal of pain : EJP 25(3), 595-611 (2021). doi:10.1002/ejp.1696

مصطلحات موضوعية: Oncology, medicine.medical_specialty, rs6311, Rs6313, Somatosensory system, VDP::Medisinske Fag: 700::Klinisk medisinske fag: 750::Nevrologi: 752, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Animals, Humans, Receptor, Serotonin, 5-HT2A, 030212 general & internal medicine, 5-HT receptor, Central Nervous System Sensitization, business.industry, Chronic pain, Sensory loss, medicine.disease, ddc, Anesthesiology and Pain Medicine, Hyperalgesia, Neuropathic pain, VDP::Medical disciplines: 700::Clinical medical disciplines: 750::Neurology: 752, Neuralgia, Chronic Pain, medicine.symptom, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4f51effb67a09b5547a9af1abd9fd64
https://mediatum.ub.tum.de/1624928

المؤلفون: Beate Albrecht, Mandy Krumbiegel, Diana Postorivo, Agatino Battaglia, Laura Bernardini, Valentina Parisi, Barbara Torres, Gioacchino Scarano, Fortunato Lonardo, Antonio Novelli, Annamaria Nardone, Valentina Guida, Paolo Fontana, Francesco Brancati, Silvia Lanciotti, Alessandra Splendiani, Malte Spielmann, Chiara Perria, Valérie Malan, Francesco Garaci, Judith Koetting, Geneviève Baujat, Jasmin Beygo, Hermann-Josef Lüdecke, Alma Kuechler, Lorenzo Sinibaldi

المصدر: Clinical genetics. 96(3)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Microcephaly, Clinodactyly, Xq28-duplication, Adolescent, Methyl-CpG-Binding Protein 2, Medizin, Rett syndrome, 030105 genetics & heredity, Biology, 03 medical and health sciences, Young Adult, Gene duplication, Chromosome Duplication, Genetics, medicine, FLNA, Humans, Genetic Predisposition to Disease, microcephaly, Hypertelorism, Child, Genetics (clinical), Genetic Association Studies, Chromosomes, Human, X, developmental delay/intellectual disability, Brain, Facies, Low copy repeats, medicine.disease, Magnetic Resonance Imaging, nervous system diseases, Pedigree, 030104 developmental biology, Phenotype, rab GTP-Binding Proteins, Mental Retardation, X-Linked, Aicardi–Goutières syndrome, Female, medicine.symptom, corpus callosum and cerebellar vermis hypoplasia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b78f6cc521e3ba0d75c421cbf99b90b2
https://pubmed.ncbi.nlm.nih.gov/31090057

المؤلفون: Hilda Bibas Bonet, Lucía Paola Rey, Maria Luisa Mostacciuolo, Larissa Arning, Anna Mazzeo, Judith Koetting, Mirta Esther Abdala, Wanda M. Gerding, Roque Carrero-Valenzuela

المصدر: Molecular and cellular probes. 27(3-4)

مصطلحات موضوعية: Male, Argentina, Biology, Polymorphism, Single Nucleotide, DNA sequencing, Connexins, Cx32, Exon, Hereditary motor sensory peripheral neuropathy, Charcot-Marie-Tooth Disease, CMT X1, medicine, Humans, HMSN, Polymorphism, Allele, education, Molecular Biology, Gene, Alleles, Genetics, education.field_of_study, Haplotype, GJB1, Single Nucleotide, Cell Biology, medicine.disease, Molecular biology, Pedigree, genomic DNA, Phenotype, Haplotypes, Mutation, Connexin 32, Female, Microsatellite Repeats, Hereditary motor and sensory neuropathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d20ef8f8b0716dd13e3b4a4e7ed36ac
https://pubmed.ncbi.nlm.nih.gov/23384994

المؤلفون: Clemens Neusch, Wanda M. Gerding, Judith Koetting, Jörg T. Epplen

المصدر: Neuromuscular disorders : NMD. 19(10)

مصطلحات موضوعية: Male, Mutation, Missense, Neural Conduction, LITAF gene, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Germany, Medicine, Missense mutation, Humans, Family, Age of Onset, Child, Genetics (clinical), 030304 developmental biology, Genetics, 0303 health sciences, business.industry, Nuclear Proteins, Nerve Block, Sequence Analysis, DNA, Middle Aged, medicine.disease, 3. Good health, Neurology, Pediatrics, Perinatology and Child Health, Demyelinating neuropathy, Female, Neurology (clinical), business, Hereditary motor and sensory neuropathy, Novel mutation, 030217 neurology & neurosurgery, Demyelinating Diseases, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a203a2551c6d7b8a684cd278717b4cf3
https://pubmed.ncbi.nlm.nih.gov/19541485