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المؤلفون: Julie M. Schultz, Zubair M. Ahmed, Robert B. Hufnagel, Todd Duncan, Sehar Riaz, Carmen C. Brewer, Thomas B. Friedman, Andrew J. Griffith, Saumil Sethna, Arnaud P. J. Giese, T. Michael Redmond, Wadih M. Zein, Saima Riazuddin
المصدر: eLife, Vol 10 (2021)
مصطلحات موضوعية: Retinal degeneration, medicine.medical_specialty, genetic structures, QH301-705.5, Science, Usher syndrome, General Biochemistry, Genetics and Molecular Biology, PCDH15, chemistry.chemical_compound, exogenous retinoids, Internal medicine, otorhinolaryngologic diseases, Medicine, usher syndrome, Biology (General), Retinal pigment epithelium, General Immunology and Microbiology, business.industry, General Neuroscience, Retinal, General Medicine, medicine.disease, eye diseases, Ashkenazi jews, medicine.anatomical_structure, Endocrinology, chemistry, RPE65, natural history, retinal degeneration, sense organs, business, Visual phototransduction
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المؤلفون: Tianxia Wu, Carmen C. Brewer, Martha Quezado, Deborah Tamura, Edythe Wiggs, John J. DiGiovanna, Paul Sackstein, Kenneth H. Kraemer, Tanya J. Lehky, Sikandar G. Khan, Nicholas J. Patronas
المصدر: BMC Neurology, Vol 21, Iss 1, Pp 1-11 (2021)
BMC Neurologyمصطلحات موضوعية: medicine.medical_specialty, Neurology, Xeroderma pigmentosum, Peripheral neuropathy, Hearing loss, Neural Conduction, DNA repair, Motor nerve, Neuropathology, Gastroenterology, Internal medicine, Humans, Medicine, Neurodegeneration, RC346-429, Retrospective Studies, business.industry, Peripheral Nervous System Diseases, General Medicine, medicine.disease, Sensorineural hearing loss, medicine.anatomical_structure, Neurology. Diseases of the nervous system, Neurology (clinical), medicine.symptom, business, Research Article, Sensory nerve
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المؤلفون: M. Teresa Magone, Dima A. Hammoud, Sally Hunsberger, Owen Dean, Jing Wang, Jennifer Chisholm, Peter Kosa, Terri L. Scott, Carmen C. Brewer, Waleed Elsegeiny, H. Jeff Kim, Chantal Krieger, Kieren A. Marr, Elizabeth Murphy, Chris Zalewski, Edmond J. FitzGibbon, Bridgette Jeanne Billioux, John E. Bennett, Avindra Nath, Kelly A. King, Bibiana Bielekova, David Wendler, Peter R. Williamson, Seher Anjum
المصدر: Clin Infect Dis
مصطلحات موضوعية: 0301 basic medicine, Microbiology (medical), medicine.medical_specialty, Antifungal Agents, CSF glucose, medicine.drug_class, Meningitis, Cryptococcal, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Cerebrospinal fluid, Adrenal Cortex Hormones, Meningoencephalitis, White blood cell, Internal medicine, medicine, Humans, Papilledema, Online only Articles, Fluconazole, business.industry, medicine.disease, Cryptococcus, 030104 developmental biology, Infectious Diseases, medicine.anatomical_structure, Methylprednisolone, Corticosteroid, medicine.symptom, business, Meningitis, 030217 neurology & neurosurgery, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6793dcae2e2d50b245b75e828c1f91ff
https://europepmc.org/articles/PMC8563180/ -
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المصدر: Ear Hear
مصطلحات موضوعية: medicine.medical_specialty, Intraclass correlation, Otoacoustic Emissions, Spontaneous, Audiology, 01 natural sciences, Article, 03 medical and health sciences, Speech and Hearing, Young Adult, 0302 clinical medicine, 0103 physical sciences, medicine, otorhinolaryngologic diseases, Evoked Potentials, Auditory, Brain Stem, Humans, Inner ear, Ear canal, Evoked potential, 030223 otorhinolaryngology, Acoustic reflex, 010301 acoustics, medicine.diagnostic_test, business.industry, Reproducibility of Results, Auditory Threshold, Audiogram, Tympanometry, medicine.anatomical_structure, Amplitude, Otorhinolaryngology, Evoked Potentials, Auditory, Audiometry, Pure-Tone, Female, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47c159a9cefe17a7f8b40bf7edbe0291
https://pubmed.ncbi.nlm.nih.gov/33136623 -
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المؤلفون: H. Jeffrey Kim, Andrew J. Griffith, Carmen C. Brewer, Seiji Hosokawa, Taku Ito, Pragya Prakash, Isabelle Roux, Danielle Harrow, Hiroshi Nakanishi
المصدر: Frontiers in Neurology
Frontiers in Neurology, Vol 11 (2020)مصطلحات موضوعية: 0301 basic medicine, cryopyrin-associated periodic syndromes, Hearing loss, interleukin-1β, Pendred syndrome, Review, macrophage, lcsh:RC346-429, 03 medical and health sciences, 0302 clinical medicine, NLRP3, medicine, otorhinolaryngologic diseases, SLC26A4, Macrophage, Inner ear, lcsh:Neurology. Diseases of the nervous system, Cochlea, hearing loss, integumentary system, business.industry, Cryopyrin-associated periodic syndrome, Inflammasome, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Neurology, Immunology, Sensorineural hearing loss, Neurology (clinical), sense organs, medicine.symptom, business, 030217 neurology & neurosurgery, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2c800099d8ebc49b20cdccf9d533705
https://pubmed.ncbi.nlm.nih.gov/32194497 -
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المؤلفون: Christopher K. Zalewski, Fabian R. Reimold, Boris E. Shmukler, Thomas H. Shawker, John F. Heneghan, Kelly A. King, Andrew J. Griffith, John A. Butman, Seth L. Alper, Carmen C. Brewer, Margaret A. Kenna, Julie A. Muskett, Wade W. Chien, Parna Chattaraj
المصدر: The Laryngoscope. 126:E240-E247
مصطلحات موضوعية: 0301 basic medicine, Genetics, Vestibular aqueduct, business.industry, Hearing loss, Haplotype, medicine.disease, 03 medical and health sciences, Autosomal recessive trait, 030104 developmental biology, medicine.anatomical_structure, Genotype-phenotype distinction, Otorhinolaryngology, Genotype, otorhinolaryngologic diseases, medicine, sense organs, Allele, medicine.symptom, business, Enlarged vestibular aqueduct
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المؤلفون: H. Jeffrey Kim, Christopher K. Zalewski, Kelly A. King, Michael T. Collins, Timothy DeKlotz, Carmen C. Brewer, Alison M. Boyce
المصدر: JAMA otolaryngology-- headneck surgery. 144(2)
مصطلحات موضوعية: musculoskeletal diseases, Adult, Male, medicine.medical_specialty, Adolescent, Hearing loss, Hearing Loss, Sensorineural, Hearing Loss, Conductive, Ear, Middle, 030209 endocrinology & metabolism, Audiology, Fibrous Dysplasia, Polyostotic, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Temporal bone, otorhinolaryngologic diseases, Medicine, Humans, Polyostotic fibrous dysplasia, Craniofacial, Child, Aged, Original Investigation, Aged, 80 and over, Ossicles, business.industry, Fibrous dysplasia, Temporal Bone, Fibrous Dysplasia of Bone, Middle Aged, medicine.disease, Conductive hearing loss, medicine.anatomical_structure, Otorhinolaryngology, Child, Preschool, Ear, Inner, Surgery, Sensorineural hearing loss, Female, medicine.symptom, business, Tomography, X-Ray Computed, 030217 neurology & neurosurgery, Ear Canal
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43ecc1a394693a87bb559dc2518242a9
https://pubmed.ncbi.nlm.nih.gov/29192304 -
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المؤلفون: Andrew J. Griffith, Rachel E. Baron, Kelly A. King, John A. Butman, Julie A. Muskett, Wade W. Chien, Carmen C. Brewer, Chris Zalewski
المصدر: Otolaryngol Head Neck Surg
مصطلحات موضوعية: Male, Vestibular aqueduct, medicine.medical_specialty, Adolescent, Hearing loss, Vestibular evoked myogenic potential, Audiology, Article, Vestibular Aqueduct, Cohort Studies, Vertigo, otorhinolaryngologic diseases, medicine, Humans, Videonystagmography, Prospective Studies, Child, Prospective cohort study, Vestibular system, medicine.diagnostic_test, biology, business.industry, medicine.disease, biology.organism_classification, medicine.anatomical_structure, Vestibular Diseases, Otorhinolaryngology, Child, Preschool, Female, Surgery, sense organs, medicine.symptom, business, Enlarged vestibular aqueduct
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المؤلفون: Meral Gunay-Aygun, William A. Gahl, Hung Jeffrey Kim, Kelly A. King, Juergen K Naggert, Jan D. Marshall, Joy Bryant, Carmen C. Brewer, Spencer Lindsey, Olga Stakhovskaya, Chris Zalewski
المصدر: American journal of medical genetics. Part A. 173(8)
مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Adult, Male, medicine.medical_specialty, Adolescent, Hearing loss, Cardiomyopathy, Cell Cycle Proteins, Audiology, Deafness, Article, Lesion, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Genetics, medicine, otorhinolaryngologic diseases, Humans, 030223 otorhinolaryngology, Child, Hearing Loss, Genetics (clinical), Alstrom Syndrome, Diagnostic Techniques, Otological, business.industry, Infant, Proteins, Auditory Threshold, Audiogram, medicine.disease, Cochlea, 030104 developmental biology, medicine.anatomical_structure, Acoustic Impedance Tests, Child, Preschool, Audiometry, Pure-Tone, Sensorineural hearing loss, Female, Hair cell, medicine.symptom, business, Alström syndrome
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المؤلفون: Christopher K. Zalewski, Mohammad Seyyedi, Deborah Tamura, Joseph B. Nadol, John J. DiGiovanna, Kenneth H. Kraemer, Mariam Totonchy, Carmen C. Brewer, Lucas M. Viana
المصدر: Otology & Neurotology. 34:1230-1236
مصطلحات موضوعية: Adult, Premature aging, Pathology, medicine.medical_specialty, Xeroderma pigmentosum, Degeneration (medical), Vestibular Nerve, Article, Fatal Outcome, Atrophy, otorhinolaryngologic diseases, medicine, Humans, Inner ear, Cochlear Nerve, Cochlea, Xeroderma Pigmentosum, business.industry, Temporal Bone, DNA, Anatomy, Middle Aged, medicine.disease, Sensory Systems, medicine.anatomical_structure, Otorhinolaryngology, Organ of Corti, Ear, Inner, Nerve Degeneration, Disease Progression, Speech Discrimination Tests, Female, Sensorineural hearing loss, Autopsy, sense organs, Neurology (clinical), business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f21c0b94272fcdea6b250859be8af1b
https://doi.org/10.1097/mao.0b013e31829795e9