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1دورية أكاديمية
المؤلفون: Paul T. Ranum, Alexander T. Goodwin, Hidekane Yoshimura, Diana L. Kolbe, William D. Walls, Jin-Young Koh, David Z.Z. He, Richard J.H. Smith
المصدر: Cell Reports, Vol 26, Iss 11, Pp 3160-3171.e3 (2019)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Mallory R. Tollefson, Rose A. Gogal, A. Monique Weaver, Amanda M. Schaefer, Robert J. Marini, Hela Azaiez, Diana L. Kolbe, Donghong Wang, Amy E. Weaver, Thomas L. Casavant, Terry A. Braun, Richard J. H. Smith, Michael J. Schnieders
مصطلحات موضوعية: Genetics, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::983e3a56b4361851b456ddfb36b4c059
https://doi.org/10.21203/rs.3.rs-2508462/v1 -
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المؤلفون: Kristen L Seligman, Marlan R. Hansen, Kathy L. Frees, A. Eliot Shearer, Diana L. Kolbe, Bruce J. Gantz, Carla Nishimura, Camille C. Dunn, Richard J.H. Smith
المصدر: Otolaryngol Head Neck Surg
مصطلحات موضوعية: Adult, medicine.medical_specialty, MYO7A, Hearing loss, medicine.medical_treatment, Deafness, Audiology, Article, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Cochlear implant, Genetic variation, otorhinolaryngologic diseases, medicine, Humans, Child, Hearing Loss, 030223 otorhinolaryngology, Cochlear implantation, Genetic testing, medicine.diagnostic_test, business.industry, Serine Endopeptidases, Membrane Proteins, Cochlear Implantation, Neoplasm Proteins, Large cohort, Cochlear Implants, Otorhinolaryngology, Genetic epidemiology, Surgery, medicine.symptom, business, 030217 neurology & neurosurgery
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المؤلفون: Miles J. Klimara, Carla Nishimura, Donghong Wang, Diana L. Kolbe, Amanda M. Schaefer, William D. Walls, Kathy L. Frees, Richard J.H. Smith, Hela Azaiez
المصدر: Genet Med
مصطلحات موضوعية: Mutation, Humans, High-Throughput Nucleotide Sequencing, Intercellular Signaling Peptides and Proteins, Exons, Deafness, Hearing Loss, Genetics (clinical), Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f27b6a767c2a511b19c366c89fe3f58a
https://pubmed.ncbi.nlm.nih.gov/36194208 -
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المؤلفون: Michal Macarov, Yoel Hirsch, Karen B. Avraham, Josef Ekstein, Cynthia C. Morton, Richard J.H. Smith, Devorah Yefet, Jun Shen, Tzvi Weiden, Chantal Farra, Diana L. Kolbe, Kevin T. Booth, John Pappas, Rachel Rabin, Carla Nishimura, Minjie Luo, Chayada Tangshewinsirikul, Andrea M. Oza, Zippora Brownstein, Adina Quint, Katherine A Lafferty, Kathy L. Frees, Sami S. Amr, Sholem Y. Scher, Margaret A. Kenna, Bella Davidov, Hela Azaiez, Heidi L. Rehm
المصدر: Eur J Hum Genet
Hirsch, Y, Tangshewinsirikul, C, Booth, K T, Azaiez, H, Yefet, D, Quint, A, Weiden, T, Brownstein, Z, Macarov, M, Davidov, B, Pappas, J, Rabin, R, Kenna, M A, Oza, A M, Lafferty, K, Amr, S S, Rehm, H L, Kolbe, D L, Frees, K, Nishimura, C, Luo, M, Farra, C, Morton, C C, Scher, S Y, Ekstein, J, Avraham, K B, Smith, R J H & Shen, J 2021, ' A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-020-00790-wمصطلحات موضوعية: Adult, Male, MYO15A, Adolescent, Hearing loss, RNA Splicing, Population, Genes, Recessive, Myosins, Biology, Compound heterozygosity, Article, 03 medical and health sciences, Gene Frequency, Genetics, medicine, Humans, Child, Hearing Loss, education, Genetics (clinical), Genetic testing, 0303 health sciences, education.field_of_study, medicine.diagnostic_test, Genetic heterogeneity, 030305 genetics & heredity, Infant, medicine.disease, Phenotype, Pedigree, Child, Preschool, Jews, Mutation, Female, Sensorineural hearing loss, medicine.symptom
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document
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المؤلفون: Carla Nishimura, Amy E. Weaver, Richard J.H. Smith, Ashley S. Ko, Hela Azaiez, Kathy L. Frees, Kevin T. Booth, Heather A. Stiff, Arlene V. Drack, Donghong Wang, John Kamholz, Diana L. Kolbe, Wanda L. Pfeifer, Christina M. Sloan-Heggen
المصدر: Ophthalmic Genet
مصطلحات موضوعية: Adult, Genetic Markers, Male, 0301 basic medicine, medicine.medical_specialty, Pediatrics, Adolescent, Genotype, Hearing loss, Usher syndrome, Visual impairment, Deafness, 030105 genetics & heredity, Blindness, Article, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Molecular genetics, otorhinolaryngologic diseases, Humans, Medicine, Genetic Predisposition to Disease, Medical diagnosis, Child, Genetics (clinical), Retrospective Studies, business.industry, Infant, Middle Aged, Prognosis, medicine.disease, Ophthalmology, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Cohort, 030221 ophthalmology & optometry, Etiology, Female, Differential diagnosis, medicine.symptom, business, Usher Syndromes, Follow-Up Studies
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المؤلفون: Jin-Young Koh, Diana L. Kolbe, Alexander T. Goodwin, David Z.Z. He, Richard J.H. Smith, Paul T. Ranum, Hidekane Yoshimura, William D. Walls
المصدر: Cell Reports, Vol 26, Iss 11, Pp 3160-3171.e3 (2019)
Cell reportsمصطلحات موضوعية: Male, 0301 basic medicine, Cell type, Deafness, Biology, Article, General Biochemistry, Genetics and Molecular Biology, Bony labyrinth, Mice, 03 medical and health sciences, 0302 clinical medicine, Transcription (biology), Gene expression, medicine, otorhinolaryngologic diseases, Animals, Inner ear, Organ of Corti, lcsh:QH301-705.5, Cochlea, Gene Expression Profiling, RNA, Cell biology, 030104 developmental biology, medicine.anatomical_structure, lcsh:Biology (General), Female, sense organs, Single-Cell Analysis, Transcriptome, 030217 neurology & neurosurgery
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المؤلفون: Carla Nishimura, Sean S. Ephraim, Robert J. Marini, A. Eliot Shearer, Christina M. Sloan-Heggen, Terry A. Braun, Richard J.H. Smith, Michael J. Schnieders, Kevin T. Booth, Elizabeth A. Black-Ziegelbein, Hela Azaiez, Diana L. Kolbe, Bradley Crone, Thomas L. Casavant
المصدر: American Journal of Human Genetics
مصطلحات موضوعية: 0301 basic medicine, genetic variant, Hearing loss, precision medicine, Computational biology, Biology, Deafness, Article, 03 medical and health sciences, Gene Frequency, Databases, Genetic, Genetics, medicine, Humans, variant classification, Hearing Loss, Gene, Uncertain significance, Genetics (clinical), database, Genetic variants, genomic landscape, mutational signature, Genomics, Precision medicine, Phenotype, Minor allele frequency, 030104 developmental biology, Mutation, Allelic heterogeneity, medicine.symptom
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dffe1da6f41335bb3b5f4f7f48ed6def
http://europepmc.org/articles/PMC6174355 -
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المؤلفون: Terry A. Braun, Guy P. Richardson, Carla Nishimura, A. Monique Weaver, Shin-ichi Usami, Shin-ya Nishio, Hela Azaiez, Yoichiro Iwasa, Amanda M. Schaefer, Robert J. Marini, Kathy L. Frees, Hidekane Yoshimura, Thomas L. Casavant, Hideaki Moteki, Peter G. Barr-Gillespie, Diana L. Kolbe, Taylor R. Thomas, W. Daniel Walls, Kai Wang, Richard J.H. Smith, Kevin T. Booth
المصدر: Hum Genet
مصطلحات موضوعية: Adult, Male, Adolescent, Genotype, Hearing loss, Hearing Loss, Sensorineural, Ethnic group, Gene Expression, Biology, GPI-Linked Proteins, White People, Article, 03 medical and health sciences, Asian People, Audiometry, Japan, Genetics, medicine, Humans, TECTA, Child, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, Aged, Aged, 80 and over, 0303 health sciences, Extracellular Matrix Proteins, medicine.diagnostic_test, KCNQ Potassium Channels, 030305 genetics & heredity, Infant, Newborn, Infant, Membrane Proteins, Middle Aged, Human genetics, United States, Pedigree, Phenotype, Evolutionary biology, Case-Control Studies, Child, Preschool, Mutation (genetic algorithm), Mutation, Female, medicine.symptom, KCNQ4
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المؤلفون: Sara O. Mason, Colleen A. Campbell, Diana L. Kolbe, Charuta Joshi, Richard J.H. Smith, M. Adela Mansilla
المصدر: Brain and Development. 38:848-851
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Genotyping Techniques, medicine.medical_treatment, Biology, Bioinformatics, Diagnosis, Differential, 03 medical and health sciences, Epilepsy, Familial case, 0302 clinical medicine, Developmental Neuroscience, Internal medicine, medicine, Humans, Exome sequencing, Genetic testing, medicine.diagnostic_test, Siblings, Epileptic encephalopathy, Phosphatidyl inositol, Infant, Membrane Proteins, General Medicine, medicine.disease, Pedigree, Treatment Outcome, 030104 developmental biology, Endocrinology, Mutation, Pediatrics, Perinatology and Child Health, Neurology (clinical), Differential diagnosis, Diet, Ketogenic, 030217 neurology & neurosurgery, Ketogenic diet