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المؤلفون: Annapurna Kuppa, Yuri V. Sergeev
المصدر: Journal of analytical & pharmaceutical research
مصطلحات موضوعية: Genetics, molecular modeling, MYO7A, computational mutagenesis, Usher syndrome, Genetic disorder, Mutagenesis (molecular biology technique), genetic mutations, Biology, medicine.disease, genotype-to-phenotype, Article, inherited eye disease, Protein structure, Usher syndrome type 1B, atomic structure, Myosin VIIa, Retinitis pigmentosa, otorhinolaryngologic diseases, medicine, Missense mutation, Homology modeling
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fde92047ffe4d5937178829fa1a1129bTest
https://doi.org/10.15406/japlr.2021.10.00364Test -
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المؤلفون: Andrew J. Griffith, Risa Tona, Liz M Nouel-Saied, Parna Chattaraj, Robert J. Morell, Thomas B. Friedman, Suzanne M. Leal, Rabia Faridi, Rizwan Yousaf, Anushree Acharya, Adebolajo A. Adeyemo, Thashi Bharadwaj, Samuel Okorie, Isabelle Roux, Isabelle Schrauwen
المصدر: European Journal of Human Genetics
مصطلحات موضوعية: Adult, Male, Heterozygote, MYO15A, Adolescent, MYO7A, Hearing loss, Hearing Loss, Sensorineural, Usher syndrome, Population, Nigeria, Biology, Compound heterozygosity, Article, Genetic Heterogeneity, Gene Frequency, Genetics research, otorhinolaryngologic diseases, Genetics, medicine, Humans, Child, Indigenous Peoples, education, Exome, Genetics (clinical), education.field_of_study, Genetic heterogeneity, medicine.disease, Genetic Loci, Child, Preschool, Female, medicine.symptom, Medical genomics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff0f5029ba3f885e1fe0b276d60c2e60Test
https://doi.org/10.1038/s41431-021-00984-wTest -
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المؤلفون: Astra Dinculescu, David A. Saperstein, Brian A. Link
المصدر: International Ophthalmology Clinics
مصطلحات موضوعية: education.field_of_study, business.industry, MYO7A, Hearing loss, Usher syndrome, Population, Genetic Therapy, medicine.disease, Congenital hearing loss, Bioinformatics, Retina, Ophthalmology, Gene Therapy for Inherited Retinal Disease: Original Articles, Retinitis pigmentosa, otorhinolaryngologic diseases, medicine, Humans, Sensorineural hearing loss, medicine.symptom, education, business, Usher Syndromes, PCDH15, Retinitis Pigmentosa
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9595c82b03486dd31cf3fd1617c3765Test
http://europepmc.org/articles/PMC8478317Test -
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المؤلفون: Wadih M. Zein, Carmen C. Brewer, Rabia Faridi, Talah T Wafa, Andrew J. Griffith, Julie M. Schultz, Ekaterini Tsilou, Thomas B. Friedman, Amy Turriff, Christopher K. Zalewski, Rizwan Yousaf, Robert J. Morell, Kelly A. King, Julie A. Muskett
المصدر: Clinical Genetics
مصطلحات موضوعية: 0301 basic medicine, Adult, Pathology, medicine.medical_specialty, Adolescent, Usher syndrome, 030105 genetics & heredity, Cohort Studies, 03 medical and health sciences, Young Adult, Genotype, Genetics, medicine, otorhinolaryngologic diseases, Humans, Prospective Studies, Child, Genetics (clinical), Cervical Vestibular Evoked Myogenic Potentials, Genetic Association Studies, Balance (ability), Aged, Vestibular system, Vestibular areflexia, novel variants, vestibular, business.industry, balance, Original Articles, Middle Aged, medicine.disease, Phenotype, 030104 developmental biology, atypical Usher syndrome, Cohort, Evoked Potentials, Auditory, Original Article, Female, sense organs, Vestibule, Labyrinth, business, Energy Intake, Usher Syndromes
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e58bfc3ca3755c044bfe6cb7d26b539dTest
http://europepmc.org/articles/PMC7821283Test -
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المؤلفون: Paul S. Bernstein, Wadih M. Zein, Katarina Stingl, Isabelle Audo, Alessandro Iannaccone, Richard L. Doty, Gavin M. Bidelman, Mark H. Myers, Janet K. Cheetham, Carmen C. Brewer, Todd Durham, Jacque L. Duncan, Robert B. Hufnagel, Peiyao Cheng, Allison R Ayala, Maureen G. Maguire
المصدر: American Journal of Medical Genetics Part A. 185:3717-3727
مصطلحات موضوعية: Retinal degeneration, education.field_of_study, medicine.medical_specialty, Hearing loss, business.industry, Usher syndrome, Population, Olfaction, Audiology, medicine.disease, eye diseases, otorhinolaryngologic diseases, Genetics, medicine, Sensorineural hearing loss, Autosomal recessive retinitis pigmentosa, medicine.symptom, education, business, Genetics (clinical), Natural history study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9f01b2c2d50695eba288d387e660cc0fTest
https://doi.org/10.1002/ajmg.a.62437Test -
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المؤلفون: Sadaf Naz
المصدر: Human Genetics. 141:633-648
مصطلحات موضوعية: Hearing loss, Usher syndrome, Genetic counseling, Population, Deafness, Biology, Connexins, otorhinolaryngologic diseases, Genetics, medicine, OTOF, Humans, Pakistan, Nonsyndromic deafness, Hearing Loss, education, Molecular Biology, Genetics (clinical), Pendred syndrome, education.field_of_study, Serine Endopeptidases, Membrane Proteins, medicine.disease, Human genetics, Neoplasm Proteins, Connexin 26, Mutation, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70846d597af264a702064d399f8495e7Test
https://doi.org/10.1007/s00439-021-02320-0Test -
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المؤلفون: Mariem Ben Said, Abdelaziz Tlili, Saber Masmoudi, Ikhlas Ben Ayed, Amal Bouzid, Hassen Kamoun, Malek Belcadhi, Amal Souissi, Mohamed Ali Mosrati, Abdullah A.Y. Gibriel, Mehdi Hasnaoui, Ines Elloumi, Nabil Idriss, N. Gharbi
المصدر: Journal of Advanced Research, Vol 31, Iss, Pp 13-24 (2021)
Journal of Advanced Researchمصطلحات موضوعية: Male, 0301 basic medicine, Medicine (General), Science (General), Usher syndrome, Deafness, Compound heterozygosity, medicine.disease_cause, Genetic heterogeneity, Q1-390, 0302 clinical medicine, Diagnosis, OTOF, Missense mutation, Genetics, Mutation, Multidisciplinary, High-Throughput Nucleotide Sequencing, Pedigree, 3. Good health, Phenotype, Child, Preschool, 030220 oncology & carcinogenesis, Medicine, Female, Usher Syndromes, Adult, Tunisia, MYO7A, Mutation, Missense, Biology, Pathogenic variant, Hearing impairment, Young Adult, 03 medical and health sciences, R5-920, Next generation sequencing, Retinitis pigmentosa, medicine, otorhinolaryngologic diseases, Humans, Genetic Testing, Hearing Loss, ComputingMethodologies_COMPUTERGRAPHICS, Membrane Proteins, medicine.disease, 030104 developmental biology, Exoribonucleases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49b22b0998b87a76309abc3face7c791Test
http://www.sciencedirect.com/science/article/pii/S2090123221000126Test -
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المؤلفون: Susanne Kohl, Asuman Koparir, Hassan Behboudi, Seungbin Han, Thomas Haaf, Hossein Darvish, Rocio Zamora-Ortiz, Cristina Villanueva-Mendoza, Julia Doll, Daniel Villalobos, Reza Maroofian, Vianney Cortés-González, Laura Kuehlewein, Barbara Vona, Michaela A.H. Hofrichter, Narsis Daftarian, Mehraban Mirrahimi, Paulina Bahena, Aboulfazl Rad, Elham Alehabib, Paola Linares, Maria de la Luz Arenas-Sordo, Fatemeh Suri, Tabea Röder, Hamideh Sabbaghi, Hamid Ahmadieh
المصدر: Human Genetics. 141:785-803
مصطلحات موضوعية: Proband, Pediatrics, medicine.medical_specialty, Hearing loss, MYO7A, Usher syndrome, Genetic counseling, Retinal Degeneration, Iran, Biology, medicine.disease, Pedigree, Phenotype, Mutation, otorhinolaryngologic diseases, Genetics, medicine, Humans, ddc:610, medicine.symptom, Scheie syndrome, Usher Syndromes, Genetics (clinical), Exome sequencing, Alström syndrome
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bf675cf097ee3f478b692a41575e6d5Test
https://doi.org/10.1007/s00439-021-02303-1Test -
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المؤلفون: Clarke Blair, Vincent Tropepe, Andrew Emili, Amanda Miles
المصدر: Disease Models & Mechanisms, Vol 14, Iss 12 (2021)
Disease Models & Mechanisms
article-version (VoR) Version of Recordمصطلحات موضوعية: retina, genetic structures, Usher syndrome, Mutant, Neuroscience (miscellaneous), Medicine (miscellaneous), Biology, General Biochemistry, Genetics and Molecular Biology, calyceal processes, Synapse, 03 medical and health sciences, Mice, 0302 clinical medicine, Rare Diseases, Immunology and Microbiology (miscellaneous), Zebrafish as a Disease Model, medicine, otorhinolaryngologic diseases, Pathology, Animals, Humans, RB1-214, usher syndrome, Zebrafish, 030304 developmental biology, 0303 health sciences, Retina, Usher Syndrome Type 1, Retinal Degeneration, medicine.disease, biology.organism_classification, zebrafish, photoreceptor, Cell biology, Disease Models, Animal, medicine.anatomical_structure, outer segment, Medicine, sense organs, Usher Syndromes, 030217 neurology & neurosurgery, PCDH15, Retinopathy, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6306c2a4f901057d6ece4466b1b8dd6Test
http://dmm.biologists.org/content/14/12/dmm048965Test -
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المؤلفون: Joseph Ryu, Stephen H. Tsang, Andrew R. Webster, Eeva-Marja Sankila, Ramiro S. Maldonado, Wadih M. Zein, Lindsey Pyers, Elena R. Schiff, Cristy A. Ku, Jeeyun Ahn, Michael B. Gorin, Mariana Matioli da Palma, Michalis Georgiou, Juliana Maria Ferraz Sallum, Jin Kyun Oh, Paul Yang, Ajoy Vincent, Byron L. Lam, Mark E. Pennesi, Michel Michaelides, Austin D. Igelman
المصدر: Ophthalmic genetics, vol 42, iss 6
Ophthalmic Genetمصطلحات موضوعية: Male, Pathology, Usher syndrome, Visual Acuity, Cell Cycle Proteins, Retinal Pigment Epithelium, Sensorineural, Neurodegenerative, Eye, Ophthalmology & Optometry, Autoantigens, Multimodal Imaging, chemistry.chemical_compound, 0302 clinical medicine, 2.1 Biological and endogenous factors, Aetiology, Frameshift Mutation, Tomography, Genetics (clinical), Arylsulfatases, Pediatric, 0303 health sciences, Middle Aged, 3. Good health, medicine.anatomical_structure, Phenotype, Codon, Nonsense, Sensorineural hearing loss, Female, medicine.symptom, Usher Syndromes, Tomography, Optical Coherence, ARSG, Adult, medicine.medical_specialty, ABHD12, cep250, Adolescent, Hearing loss, Hearing Loss, Sensorineural, Article, Pallor, 03 medical and health sciences, Young Adult, Rare Diseases, Clinical Research, Opthalmology and Optometry, Retinitis pigmentosa, otorhinolaryngologic diseases, medicine, Genetics, Humans, CEP78, Genetic Testing, Hearing Loss, Codon, Eye Disease and Disorders of Vision, 030304 developmental biology, Retrospective Studies, Aged, Retinal pigment epithelium, business.industry, Neurosciences, Dystrophy, Retinal, medicine.disease, Monoacylglycerol Lipases, Ophthalmology, Orphan Drug, chemistry, Nonsense, Optical Coherence, Atypical usher syndrome, Pediatrics, Perinatology and Child Health, sense organs, business, 030217 neurology & neurosurgery, Cone-Rod Dystrophies
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe8960670d9c0f98cf50a87a64f9ffe5Test
https://escholarship.org/uc/item/0vc5m5k3Test
