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1دورية أكاديمية
المؤلفون: Asif Naveed Ahmed, Raheel Tahir, Niamat Khan, Mushtaq Ahmad, Muhammad Dawood, Abdul Basit, Muhammad Yasin, Maha Nowshid, Muhammad Marwan, Komal Sultan, Shamim Saleha
المصدر: BMC Ophthalmology, Vol 21, Iss 1, Pp 1-8 (2021)
مصطلحات موضوعية: Recessive RP, USH2, Pakistani families, USH2A variants, Sanger sequencing, Ophthalmology, RE1-994
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2415
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2دورية أكاديمية
المؤلفون: Ahmed, Asif Naveed, Tahir, Raheel, Khan, Niamat, Ahmad, Mushtaq, Dawood, Muhammad, Basit, Abdul, Yasin, Muhammad, Nowshid, Maha, Marwan, Muhammad, Sultan, Komal, Saleha, ShamimAff1
المصدر: BMC Ophthalmology. 21(1)
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3دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
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المؤلفون: Muhammad Marwan, Asif Naveed Ahmed, Muhammad Dawood, Abdul Basit, Mushtaq Ahmad, Komal Sultan, Maha Nowshid, Niamat Khan, Shamim Saleha, Muhammad Yasin, Raheel Tahir
المصدر: BMC Ophthalmology
BMC Ophthalmology, Vol 21, Iss 1, Pp 1-8 (2021)مصطلحات موضوعية: Keratoconus, Sanger sequencing, Usher syndrome, DNA Mutational Analysis, Pakistani families, Disease, symbols.namesake, USH2A variants, Retinitis pigmentosa, medicine, otorhinolaryngologic diseases, Missense mutation, Humans, Pakistan, Gene, Genetics, Extracellular Matrix Proteins, business.industry, Research, USH2, General Medicine, RE1-994, medicine.disease, Recessive RP, Phenotype, Pedigree, Ophthalmology, Mutation, symbols, business, Usher Syndromes
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المؤلفون: Yuchen Wang, Le Wang, Jilong Hao, Xianhui Gong, Bo Wei, Xueqi Fu, Shu Xing, Junfeng Ma, Yuan Sui
المصدر: Molecular Medicine Reports
مصطلحات موضوعية: 0301 basic medicine, Scaffold protein, Cancer Research, Usher syndrome, Recombinant Fusion Proteins, Protein domain, Fluorescent Antibody Technique, Gene Expression, interaction, Plasma protein binding, Biology, Biochemistry, espin, 03 medical and health sciences, USH2 complex, 0302 clinical medicine, Protein Domains, Chlorocebus aethiops, PR regions, Genetics, medicine, otorhinolaryngologic diseases, Animals, Humans, Protein Interaction Domains and Motifs, Molecular Biology, Extracellular Matrix Proteins, COS cells, whirlin, Microfilament Proteins, USH2, Transfection, Articles, medicine.disease, Transport protein, Cell biology, Protein Transport, 030104 developmental biology, Oncology, 030220 oncology & carcinogenesis, COS Cells, Molecular Medicine, Disease Susceptibility, Usher Syndromes, Protein Binding
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المؤلفون: Jun Yang, Qian Chen, Junhuang Zou, Weiping Zhang, Zuolian Shen
المصدر: Journal of Biological Chemistry. 289:36070-36088
مصطلحات موضوعية: Multiprotein complex, PDZ domain, PDZ Domains, Plasma protein binding, Biology, Biochemistry, Receptors, G-Protein-Coupled, Protein–protein interaction, Mice, USH2 complex, Two-Hybrid System Techniques, Chlorocebus aethiops, otorhinolaryngologic diseases, Animals, Humans, Amino Acid Sequence, Protein Structure, Quaternary, Molecular Biology, Peptide sequence, Genetics, Extracellular Matrix Proteins, HEK 293 cells, Membrane Proteins, Molecular Bases of Disease, Cell Biology, eye diseases, Cell biology, HEK293 Cells, Membrane protein, COS Cells, Protein Multimerization, Carrier Proteins, Usher Syndromes, Protein Binding
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03367f1376ac7826fc1b0eeda760164d
https://doi.org/10.1074/jbc.m114.610535 -
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المؤلفون: Francesca Torricelli, Alessandro Mariottini, Silvia Gagliardi, Giuseppe Magliulo, Nicola Iozzo, Giannicola Iannella, Rocco Plateroti
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Vestibular evoked myogenic potential, cross-sectional studies, Audiology, Congenital hearing loss, Receptors, G-Protein-Coupled, vestibular disorders, extracellular matrix proteins, 03 medical and health sciences, 0302 clinical medicine, otorhinolaryngologic diseases, medicine, Humans, 030223 otorhinolaryngology, Cervical Vestibular Evoked Myogenic Potentials, Vestibular system, Semicircular canal, medicine.diagnostic_test, Posterior Semicircular Canal, business.industry, adult, USH2, Ocular Vestibular Evoked Myogenic Potentials, Middle Aged, Vestibular Function Tests, v-HIT, 030104 developmental biology, medicine.anatomical_structure, VEMPs, Italy, Otorhinolaryngology, Usher’s syndrome, adolescent, Mutation, Female, Surgery, sense organs, Audiometry, business, Usher Syndromes
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f118d08660baaeb2a11a01d783848745
http://hdl.handle.net/11573/1209300 -
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المؤلفون: Tihua Zheng, Qian Chen, Pranav Dinesh Mathur, Junhuang Zou, Qing Yin Zheng, Jun Yang, Cong Tian, Ali Almishaal
المصدر: Human molecular genetics. 26(3)
مصطلحات موضوعية: 0301 basic medicine, Multiprotein complex, Stereocilia (inner ear), PDZ domain, PDZ Domains, Cell Cycle Proteins, Biology, Myosins, Bioinformatics, Retina, Extracellular matrix, Stereocilia, 03 medical and health sciences, USH2 complex, Mice, 0302 clinical medicine, Myosin, Hair Cells, Auditory, Genetics, otorhinolaryngologic diseases, Animals, Humans, Molecular Biology, Genetics (clinical), Cochlea, Extracellular Matrix Proteins, General Medicine, Articles, Cell biology, Cytoskeletal Proteins, 030104 developmental biology, Multiprotein Complexes, Myosin VIIa, Mechanosensitive channels, sense organs, Carrier Proteins, Usher Syndromes, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a26ed1d9413ed67aafc8dd01f07bc27b
https://pubmed.ncbi.nlm.nih.gov/28031293 -
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المؤلفون: João Carlos Ribeiro, Andreia Carvalho Pereira, Sonia Maria Soares Ferreira, João Nuno Ramos, Isabel Catarina Duarte, Miguel Castelo-Branco
المصدر: NeuroImage : Clinical
NeuroImage: Clinical, Vol 22, Iss, Pp-(2019)مصطلحات موضوعية: Male, USH1, Usher Syndrome type 1, Olfactory system, OB, Olfactory bulb, USH, Usher Syndrome, Usher syndrome, lcsh:RC346-429, Olfaction Disorders, 0302 clinical medicine, Olfactory threshold, medicine.diagnostic_test, 05 social sciences, Brain, Regular Article, Middle Aged, Magnetic Resonance Imaging, Olfactory Bulb, Smell, BBS, Bardet-Biedl Syndrome, Neurology, Sensory Thresholds, RP, Retinitis Pigmentosa, lcsh:R858-859.7, Female, Usher Syndromes, MRI, Adult, Cognitive Neuroscience, OS, Olfactory sulcus, Olfactory sulcus, Prefrontal Cortex, Sensory system, Olfaction, Biology, lcsh:Computer applications to medicine. Medical informatics, 050105 experimental psychology, 03 medical and health sciences, medicine, Humans, 0501 psychology and cognitive sciences, Radiology, Nuclear Medicine and imaging, lcsh:Neurology. Diseases of the nervous system, USH2, Usher Syndrome type 2, Magnetic resonance imaging, medicine.disease, Olfactory bulb, Neurology (clinical), MRI, magnetic resonance imaging, Neuroscience, 030217 neurology & neurosurgery
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المؤلفون: Jeffrey R. Holt, Jun Yang, Tihua Zheng, Xiao Ping Liu, Yong Wang, Junhuang Zou, Bifeng Pan, Charles Askew, Chongyu Ren
المصدر: Human Molecular Genetics. 23:2374-2390
مصطلحات موضوعية: Hearing loss, Stereocilia (inner ear), Usher syndrome, Molecular Sequence Data, PDZ domain, Nerve Tissue Proteins, Biology, Receptors, G-Protein-Coupled, Mice, USH2 complex, Hair Cells, Auditory, otorhinolaryngologic diseases, Genetics, medicine, Animals, Hearing Loss, Molecular Biology, Genetics (clinical), Mice, Knockout, Stereocilium, Membrane Proteins, Articles, General Medicine, Anatomy, medicine.disease, Cell biology, Membrane protein, Knockout mouse, sense organs, medicine.symptom, Usher Syndromes, Gene Deletion
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fb78a644821ccf223d3899251f5b01d
https://doi.org/10.1093/hmg/ddt629