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1دورية أكاديمية
المؤلفون: Varga, R, Avenarius, MR, Kelley, PM, Keats, BJ, Berlin, CI, Hood, LJ, Morlet, TG, Brashears, SM, Starr, A, Cohn, ES, Smith, RJH, Kimberling, WJ
المصدر: Journal of Medical Genetics. 43(7)
مصطلحات موضوعية: Peripheral Neuropathy, Neurosciences, Neurodegenerative, Pediatric, Genetics, Aetiology, 2.1 Biological and endogenous factors, Ear, Child, Chromosome Mapping, Connexin 26, Connexins, Family, Female, Genetic Variation, Genotype, Hearing Loss, Humans, Male, Membrane Proteins, Mutation, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/4m09d687
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2دورية أكاديمية
المؤلفون: Varga, R, Kelley, PM, Keats, BJ, Starr, A, Leal, SM, Cohn, E, Kimberling, WJ
المصدر: Journal of Medical Genetics. 40(1)
مصطلحات موضوعية: Adolescent, Adult, Amino Acid Sequence, Base Sequence, Child, Child, Preschool, Female, Genes, Recessive, Genetic Markers, Hearing Loss, Sensorineural, Humans, Male, Membrane Proteins, Middle Aged, Molecular Sequence Data, Mutation, Syndrome, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/47q5t8gs
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3دورية أكاديمية
المؤلفون: Pieke-Dahl, S, Möller, CG, Kelley, PM, Astuto, LM, Cremers, CW, Gorin, MB, Kimberling, WJ
المصدر: Journal of Medical Genetics. 37(4)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Usher Syndrome, Neurosciences, Rare Diseases, Eye Disease and Disorders of Vision, Aetiology, 2.1 Biological and endogenous factors, Chromosome Mapping, Chromosomes, Human, Pair 5, Female, Genetic Heterogeneity, Hearing Loss, Sensorineural, Humans, Male, Pedigree, Retinitis Pigmentosa, Syndrome, Medical and Health Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/70p2t7n7
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4دورية أكاديمية
المؤلفون: Dahl, S Pieke, Kimberling, WJ, Gorin, MB, Weston, MD, Furman, JM, Pikus, A, Möller, C
المصدر: Journal of Medical Genetics. 30(10)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Usher Syndrome, Pediatric, Neurosciences, Rare Diseases, Genetic Testing, Eye Disease and Disorders of Vision, Aetiology, 2.1 Biological and endogenous factors, Congenital, Adolescent, Adult, Chromosomes, Human, Pair 1, Female, Genetic Linkage, Genetic Variation, Genotype, Haplotypes, Hearing Loss, Sensorineural, Humans, Male, Pedigree, Phenotype, Polymorphism, Restriction Fragment Length, Retinitis Pigmentosa, Syndrome, Medical and Health Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/7dz8953z
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5دورية أكاديمية
المؤلفون: Pieke Dahl, S, Kimberling, WJ, Gorin, MB, Weston, MD, Furman, JM, Pikus, A, Möller, C
المصدر: Journal of medical genetics. 30(10)
مصطلحات موضوعية: Chromosomes, Human, Pair 1, Humans, Hearing Loss, Sensorineural, Retinitis Pigmentosa, Syndrome, Pedigree, Genotype, Haplotypes, Phenotype, Polymorphism, Restriction Fragment Length, Adolescent, Adult, Female, Male, Genetic Variation, Genetic Linkage, Pediatric, Rare Diseases, Eye Disease and Disorders of Vision, Genetic Testing, Neurosciences, Usher Syndrome, Genetics, 2.1 Biological and endogenous factors, Congenital Disorders, Genetics & Heredity, Biological Sciences, Medical and Health Sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/7dz8953z
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6دورية أكاديمية
المؤلفون: Sumegi, J, Wang, JY, Zhen, DK, Eudy, JD, Talmadge, CB, Li, BF, Berglund, P, Weston, MD, Yao, SF, MaEdmonds, ML, Overbeck, L, Kelley, PM, Zabarovsky, E, Uzvolgyi, E, Stanbridge, EJ, Klein, G, Kimberling, WJ
المصدر: Genomics. 35(1):79-86
مصطلحات موضوعية: Medicin och hälsovetenskap
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7دورية أكاديمية
المؤلفون: TALMADGE, CB, ZHEN, DK, WANG, JY, BERGLUND, P, LI, BF, WESTON, MD, KIMBERLING, WJ, ZABAROVSKY, ER, STANBRIDGE, EJ, KLEIN, G, SUMEGI, J
المصدر: Genomics. 29(1):105-114
مصطلحات موضوعية: Medicin och hälsovetenskap
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8
المصدر: MOLECULAR VISION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instnameمصطلحات موضوعية: otorhinolaryngologic diseases
URL الوصول: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::148dae1f31a079bdb37755dcd504c744
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=2402 -
9
المصدر: HUMAN MUTATION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instnameمصطلحات موضوعية: otorhinolaryngologic diseases, eye diseases
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10
المؤلفون: Varga, R, Kelley, PM, Keats, BJ, Starr, A, Leal, SM, Cohn, E, Kimberling, WJ
المصدر: Varga, R; Kelley, PM; Keats, BJ; Starr, A; Leal, SM; Cohn, E; et al.(2003). Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene [2]. Journal of Medical Genetics, 40(1), 45-50. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/47q5t8gs
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______325::77a842bafddb4af038c92de3abb66366
http://www.escholarship.org/uc/item/47q5t8gs