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1
المؤلفون: Eleanna Kara, Rita Guerreiro, John Hardy, Jason D. Warren, Simon Mead, Martin N. Rossor, Henry Houlden, Tamas Revesz, Foucaud Du Boisguéheneuc, Fanny Mochel, Jose Bras, Tammaryn Lashley, Jon Beck, Frédéric Sedel, Nicole Gurunlian, Ricardo Taipa, Didier Hannequin, Nick C. Fox, Jonathan D. Rohrer, Christel Depienne, Isabelle Le Ber, Céline Dupuits, Alexis Brice, Lucia Schottlaender, Véronique Golfier, Agnès Camuzat
المصدر: JAMA Neurology. 70:875
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Receptor, Macrophage Colony-Stimulating Factor, Biology, Article, Colony stimulating factor 1 receptor, Leukoencephalopathy, Leukoencephalopathies, medicine, Humans, Exome, Age of Onset, Kinase activity, Genetic Association Studies, Exome sequencing, Leukodystrophy, Middle Aged, medicine.disease, Pedigree, Europe, Hereditary Central Nervous System Demyelinating Diseases, Gliosis, Mutation, Hereditary diffuse leukoencephalopathy with spheroids, Female, Neurology (clinical), medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::488ee31c3f6a2b75c2e6f1b2ba09b422Test
https://doi.org/10.1001/jamaneurol.2013.698Test -
2
المؤلفون: Jennifer Sparr, Stephen B. Gruber, Sapna Syngal, Prathap Bandipalliam, Elena M. Stoffel, Nabihah Tayob, Bhramar Mukherjee, Victoria M. Raymond, Fei Wang, Fay Kastrinos
المصدر: JAMA. 302:1790
مصطلحات موضوعية: Adult, Male, Risk, Oncology, medicine.medical_specialty, Pathology, Genotype, Colorectal cancer, DNA Mutational Analysis, Population, Gene mutation, DNA Mismatch Repair, Article, Young Adult, Pancreatic cancer, Internal medicine, medicine, Humans, Registries, education, Germ-Line Mutation, Adaptor Proteins, Signal Transducing, Aged, Proportional Hazards Models, Aged, 80 and over, education.field_of_study, business.industry, Hazard ratio, Nuclear Proteins, Cancer, General Medicine, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Lynch syndrome, Pedigree, DNA-Binding Proteins, Pancreatic Neoplasms, MutS Homolog 2 Protein, Phenotype, medicine.anatomical_structure, Female, MutL Protein Homolog 1, business, Pancreas, SEER Program
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97043dd492da56911f1194bdbf7375eeTest
https://doi.org/10.1001/jama.2009.1529Test -
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المؤلفون: Roberta Battini, M. Cristina Bianchi, Michela Tosetti, Giovanni Cioni, Paolo Bonanni, Odile Boespflug-Tanguy, Raffaello Canapicchi
المصدر: Archives of Neurology. 60:268
مصطلحات موضوعية: Adult, Male, Proband, Pathology, medicine.medical_specialty, Proteolipid protein 1, Pelizaeus-Merzbacher Disease, Mutation, Missense, Gene mutation, Biology, White matter, Arts and Humanities (miscellaneous), Spastic, medicine, Humans, Missense mutation, Child, Myelin Proteolipid Protein, Evoked Potentials, Brain, Pelizaeus–Merzbacher disease, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Hyperintensity, Pedigree, nervous system diseases, medicine.anatomical_structure, Female, lipids (amino acids, peptides, and proteins), Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87d0a69662c60b00ed7f3b801595bb4eTest
https://doi.org/10.1001/archneur.60.2.268Test -
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المؤلفون: Koji Abe, Makoto Tamai, Yasuto Itoyama, Masashi Aoki, Toshiaki Abe
المصدر: Archives of Ophthalmology. 115:231
مصطلحات موضوعية: Adult, Male, Spinocerebellar Ataxia Type 1, Pathology, medicine.medical_specialty, Visual acuity, Eye Diseases, genetic structures, Fundus Oculi, Vision Disorders, Visual Acuity, Cell Count, Gene mutation, Polymerase Chain Reaction, Central nervous system disease, Degenerative disease, Trinucleotide Repeats, Electroretinography, medicine, Humans, Allele, Alleles, Aged, DNA Primers, Spinocerebellar Degenerations, medicine.diagnostic_test, business.industry, Endothelium, Corneal, DNA, Machado-Joseph Disease, Middle Aged, medicine.disease, Pedigree, Ophthalmology, Mutation, Ataxia, Female, sense organs, Visual Fields, medicine.symptom, business, Color Perception, Retinopathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e8d6839a9636e0429536c58b1a94d0cTest
https://doi.org/10.1001/archopht.1997.01100150233013Test