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

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

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

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

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

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

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:1955369

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

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:1960591

المؤلفون: Jaijo T, Oshima A, Aller E, Carney C, Usami S, Millán JM, Kimberling WJ

المصدر: MOLECULAR VISION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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مصطلحات 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

المؤلفون: Oshima A, Jaijo T, Aller E, Millan JM, Carney C, Usami S, Moller C, Kimberling WJ

المصدر: HUMAN MUTATION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

مصطلحات موضوعية: otorhinolaryngologic diseases, eye diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::40a3557c743fec58ce53e2ca5ff6fac8
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=3548

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