نتائج البحث - "aqueduct"

1

Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review

المؤلفون: Antonio Sarikas, Gerd Rasp, Sebastian Roesch, Silvia Dossena

المصدر: Audiology Research
Audiology Research, Vol 11, Iss 40, Pp 423-442 (2021)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66142679bd7b13d65bf0ed369fa82f8f
https://doi.org/10.3390/audiolres11030040

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2

Selected Otologic Disorders Causing Dizziness

المؤلفون: Gail Ishiyama

المصدر: CONTINUUM: Lifelong Learning in Neurology. 27:468-490

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f96543551fc7e87280ee5ad60cea2e0
https://doi.org/10.1212/con.0000000000000977

3

Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss

المؤلفون: Keiji Honda, Andrew J. Griffith

المصدر: Human Genetics. 141:455-464

مصطلحات موضوعية: Genetics, Hearing loss, Haplotype, Pendrin, Biology, medicine.disease, Autosomal recessive trait, Genotype, otorhinolaryngologic diseases, medicine, biology.protein, sense organs, Allele, medicine.symptom, Genetics (clinical), Pendred syndrome, Enlarged vestibular aqueduct

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::52bd58d7c36f1a5227a042a0b59c160d
https://doi.org/10.1007/s00439-021-02311-1

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4

Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features

المؤلفون: Luca Bruschini, Francesca Forli, Stefano Berrettini, Francesco Lazzerini, G Auletta

المساهمون: Forli, F., Lazzerini, F., Auletta, G., Bruschini, L., Berrettini, S.

المصدر: European Archives of Oto-Rhino-Laryngology

مصطلحات موضوعية: Enlarged vestibular aqueduct, Hearing loss, Inner ear malformation, Mondini Malformation, Pendred Syndrome, medicine.medical_specialty, Hearing Loss, Sensorineural, Otology, Congenital hearing loss, Gastroenterology, Vestibular Aqueduct, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, otorhinolaryngologic diseases, medicine, Humans, Inner ear, 030223 otorhinolaryngology, Pendred syndrome, Retrospective Studies, biology, medicine.diagnostic_test, business.industry, food and beverages, Membrane Transport Proteins, Audiology, General Medicine, Pendrin, medicine.disease, medicine.anatomical_structure, Otorhinolaryngology, Sulfate Transporters, 030220 oncology & carcinogenesis, Mutation, biology.protein, sense organs, Pure tone audiometry, medicine.symptom, business, Hearing lo

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19a5c916927062970e44885e7581711c
https://doi.org/10.1007/s00405-020-06333-9

5

Vestibular-evoked myogenic potentials in patients with large vestibular aqueduct syndrome

المؤلفون: Yan Zhang, Junli Wang, Yuzhong Zhang, Qing Zhang, Zichen Chen, Min Xu, Juan Hu

المصدر: Acta Oto-Laryngologica. 140:40-45

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Vestibular aqueduct, Adolescent, Vestibular evoked myogenic potential, Audiology, Sensitivity and Specificity, Vestibular Aqueduct, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Vertigo, Statistical significance, medicine, Humans, In patient, Child, 030223 otorhinolaryngology, Cervical Vestibular Evoked Myogenic Potentials, Vestibular system, biology, Adult patients, business.industry, Age Factors, Syndrome, General Medicine, biology.organism_classification, Vestibular Evoked Myogenic Potentials, medicine.anatomical_structure, Vestibular Diseases, Otorhinolaryngology, Case-Control Studies, Child, Preschool, 030220 oncology & carcinogenesis, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fc23fb738172055698303c50fa70439
https://doi.org/10.1080/00016489.2019.1687937

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6

Comparative Analysis of CT and MRI Diagnosis of Large Vestibular Aqueduct Syndrome (LVAS) in Children

المؤلفون: Ling Yang, Jie Liu

المصدر: Journal of the College of Physicians and Surgeons Pakistan. 29:753-756

مصطلحات موضوعية: Male, 0106 biological sciences, China, medicine.medical_specialty, Vestibular aqueduct, Adolescent, Hearing loss, Hearing Loss, Sensorineural, 01 natural sciences, Endolymphatic sac, Vestibular Aqueduct, Endolymphatic duct, 03 medical and health sciences, 010608 biotechnology, Vertigo, otorhinolaryngologic diseases, medicine, Humans, Child, Retrospective Studies, 030304 developmental biology, Vestibular system, 0303 health sciences, medicine.diagnostic_test, biology, business.industry, Magnetic resonance imaging, Syndrome, General Medicine, biology.organism_classification, Magnetic Resonance Imaging, medicine.anatomical_structure, Child, Preschool, Female, sense organs, Radiology, Tomography, medicine.symptom, Tomography, X-Ray Computed, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7011888891a0cf21e6896aeda62b90e5
https://doi.org/10.29271/jcpsp.2019.08.753

7

X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant

المؤلفون: Patrick Edery, L. Guibaud, Bénédicte Gérard, Valérie Castellani, Muriel Bozon, Amélie Piton, Renaud Touraine, Pascale Saugier-Veber, Idriss Bousquet, Audrey Putoux, Damien Sanlaville

المصدر: neurogenetics. 22:43-51

مصطلحات موضوعية: 0301 basic medicine, Genetics, L1, X-linked intellectual disability, Corpus Callosum Agenesis, MASA syndrome, Biology, medicine.disease, Phenotype, 03 medical and health sciences, Cellular and Molecular Neuroscience, 030104 developmental biology, 0302 clinical medicine, Cerebral aqueduct, Intellectual disability, medicine, Transversion, 030217 neurology & neurosurgery, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7bf365be14d91adaf565bb987d983246
https://doi.org/10.1007/s10048-020-00629-y

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8

Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next‐generation sequencing of the SLC26A4 gene

المؤلفون: Ruijun Li, Zengguang Yang, Beiping Zeng, Ying Xu, Ying Shi, Juanli Zhang, Lu Wei, Sen Zhang, Bei Chen, Yan Zhang, Hui Zhang, Tian Yingtao, Chang Jiang, Jun Liu, Danhua Liu, Xiaohua Li, Hongen Xu, Wenxue Tang, Huanfei Liu, Yongan Tian, Haili Wang, Tong Li, Qianyu Lin

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 8, Pp n/a-n/a (2021)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, Hearing loss, Genetic counseling, KCNJ10, QH426-470, 030105 genetics & heredity, Vestibular Aqueduct, 03 medical and health sciences, Multiplex polymerase chain reaction, Genetics, medicine, otorhinolaryngologic diseases, SLC26A4, Humans, Genetic Testing, Hearing Loss, Molecular Biology, pathogenic variants, Genetics (clinical), biology, High-Throughput Nucleotide Sequencing, Infant, Original Articles, Sequence Analysis, DNA, multiplex PCR, Middle Aged, medicine.disease, 030104 developmental biology, FOXI1, Sulfate Transporters, Child, Preschool, biology.protein, Medical genetics, Sensorineural hearing loss, Original Article, enlarged vestibular aqueduct, Female, sense organs, medicine.symptom, Enlarged vestibular aqueduct

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce215c6ba2551060003186e2a60f8296
http://europepmc.org/articles/PMC8404235

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9

Clinical Implication of Caloric and Video Head Impulse Tests for Patients With Enlarged Vestibular Aqueduct Presenting With Vertigo

المؤلفون: Yangming Leng, Bo Liu, Ming Li

المصدر: Frontiers in Neurology
Frontiers in Neurology, Vol 12 (2021)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05b7c30c96cadb81f3814ac5abebd598
https://pubmed.ncbi.nlm.nih.gov/34707555

10

Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation

المصدر: Journal of Genetics and Genomics. 47:618-626

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Genetic Linkage, Hearing Loss, Sensorineural, Labyrinth Diseases, Mutation, Missense, Biology, Congenital hearing loss, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Maldevelopment, Exome Sequencing, otorhinolaryngologic diseases, Genetics, medicine, Animals, Humans, Missense mutation, Genetic Predisposition to Disease, Inner ear, Molecular Biology, Zebrafish, Exome sequencing, 030304 developmental biology, 0303 health sciences, medicine.diagnostic_test, Infant, Newborn, Infant, medicine.disease, Cochlea, Phosphotransferases (Alcohol Group Acceptor), Phenotype, medicine.anatomical_structure, Ear, Inner, Female, Sensorineural hearing loss, Audiometry, 030217 neurology & neurosurgery, Enlarged vestibular aqueduct

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfdc19f9c61c72196418ff81f86eb9b4
https://doi.org/10.1016/j.jgg.2020.07.008

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