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1
المؤلفون: Xavier Ferrer, Philippe Latour, Marie Rouanet, Claude Vital, Alain Lagueny, A. Vital, G Le Masson, Antoon Vandenberghe
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 70:232-235
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Nonsense mutation, Neural Conduction, Short Report, Exon, Recurrence, Humans, Medicine, Transversion, Nerve biopsy, medicine.diagnostic_test, business.industry, Point mutation, Heterozygote advantage, Tetracycline, Phenotype, Pedigree, Psychiatry and Mental health, Codon, Nonsense, Mutation (genetic algorithm), Female, Surgery, Neurology (clinical), Nervous System Diseases, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19706f650d389b401a997386723b3c26Test
https://doi.org/10.1136/jnnp.70.2.232Test -
2
المؤلفون: Laurette Morlé, Antoon Vandenberghe, Lionel Collet, Patrick Edery, Muriel Bozon, Jacqueline Godet, Philippe Latour, Nicole Alloisio, Henri Plauchu, Geneviève Lina-Granade
المصدر: Journal of Medical Genetics. 37:368-370
مصطلحات موضوعية: Adult, Male, Heterozygote, Adolescent, Hearing loss, Short Report, Connexin, Deafness, Biology, medicine.disease_cause, Connexins, Genetic determinism, Pathogenesis, Loss of heterozygosity, otorhinolaryngologic diseases, Genetics, medicine, Humans, Child, Gene, Genetics (clinical), Genes, Dominant, Mutation, Middle Aged, Pedigree, Connexin 26, Transmembrane domain, Female, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58e2064ea35f3764e238f959d633770dTest
https://doi.org/10.1136/jmg.37.5.368Test -
3
المؤلفون: N Vandenberghe, Guy Chazot, A Gatignol, M Boucherat, M Upadhyaya, L. Boutrand, Antoon Vandenberghe, Philippe Latour
المصدر: Journal of Medical Genetics. 39:81e-81
مصطلحات موضوعية: Male, Early Growth Response Protein 2, DNA Mutational Analysis, Schwann cell, Myelin, Gene Frequency, Charcot-Marie-Tooth Disease, Peripheral myelin protein 22, Genetics, medicine, Humans, Genetic Testing, education, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Zinc finger, education.field_of_study, biology, Myelin protein zero, Zinc Fingers, Myelin basic protein, DNA-Binding Proteins, Hereditary Central Nervous System Demyelinating Diseases, Phenotype, medicine.anatomical_structure, Mutation, biology.protein, Connexin 32, Female, Online Mutation Report, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::065da6edfad46a37cd94ae26179126c1Test
https://doi.org/10.1136/jmg.39.12.e81Test