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1دورية أكاديمية
المصدر: PeerJ, Vol 4, p e2494 (2016)
مصطلحات موضوعية: Hearing loss, Connexin 26, IP3, FRAP, p.Gly45Arg, GJB2, Medicine, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: https://peerj.com/articles/2494.pdfTest; https://peerj.com/articles/2494Test/; https://doaj.org/toc/2167-8359Test
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المؤلفون: Iris Schrijver, Kay W. Chang, Dylan K. Chan
المصدر: Otology & Neurotology. 32:81-87
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Genotype, Hearing loss, Hearing Loss, Sensorineural, Bilateral Deafness, Audiology, Connexins, Statistics, Nonparametric, Audiometry, Gene Frequency, Ethnicity, otorhinolaryngologic diseases, Humans, Medicine, Child, Allele frequency, Alleles, Retrospective Studies, Genetic testing, medicine.diagnostic_test, business.industry, Retrospective cohort study, medicine.disease, Sensory Systems, Connexin 26, Otorhinolaryngology, Child, Preschool, Neurology (clinical), medicine.symptom, Unilateral hearing loss, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce293f7fc27f387c79dd2e0f70da3e5bTest
https://doi.org/10.1097/mao.0b013e3181fc786fTest -
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المؤلفون: Iris Schrijver, Dylan K. Chan, Kay W. Chang
المصدر: Genetics in Medicine. 12:174-181
مصطلحات موضوعية: medicine.medical_specialty, Genotype, Hearing loss, Deafness, Biology, Audiology, Compound heterozygosity, medicine.disease_cause, California, Connexins, Audiometry, otorhinolaryngologic diseases, medicine, Humans, Allele, Child, Hearing Loss, Alleles, Genetics (clinical), Mutation, medicine.diagnostic_test, Phenotype, United States, Connexin 26, Cohort, Disease Progression, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::438a1ed1a8eadb1f490de1e86a7c0d81Test
https://doi.org/10.1097/gim.0b013e3181d0d42bTest -
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المؤلفون: Iris Schrijver, Juan Rodriguez-Paris
المصدر: Biochemical and Biophysical Research Communications. 389:354-359
مصطلحات موضوعية: Transcriptional Activation, Hearing Loss, Sensorineural, Biophysics, Connexin, Biology, Compound heterozygosity, medicine.disease_cause, Biochemistry, Connexins, Connexin 30, otorhinolaryngologic diseases, medicine, Humans, Allele, Promoter Regions, Genetic, Molecular Biology, Gene, Alleles, Sequence Deletion, Genetics, Mutation, Genetic Complementation Test, Cell Biology, medicine.disease, Digenic inheritance, Molecular biology, Connexin 26, biology.protein, Sensorineural hearing loss, sense organs, GJB6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8901fa0f44ec0e22192e5b856201802Test
https://doi.org/10.1016/j.bbrc.2009.08.152Test -
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المؤلفون: Iris Schrijver, Phyllis Gardner, Chunyan Qu
المصدر: Experimental Cell Research. 315:1683-1692
مصطلحات موضوعية: Cytochalasin B, Connexin, Arp2/3 complex, Biology, Transfection, Microfilament, Connexins, Adherens junction, chemistry.chemical_compound, Tubulin, Connexin 30, otorhinolaryngologic diseases, Humans, Immunoprecipitation, Cytochalasin, Cytoskeleton, Brefeldin A, Secretory Pathway, Dose-Response Relationship, Drug, Nocodazole, Gap Junctions, Membrane Proteins, Cell Biology, Phosphoproteins, Actins, Actin filament depolymerization, Cell biology, Connexin 26, Actin Cytoskeleton, Protein Transport, chemistry, Zonula Occludens-1 Protein, biology.protein, GJB6, HeLa Cells, Protein Binding
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41647fea2ddff281893d9274492321cdTest
https://doi.org/10.1016/j.yexcr.2009.03.001Test -
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المؤلفون: Maimoona A. Zariwala, Richard J. Wenstrup, Girish V. Putcha, Kasinathan Muralidharan, Ishrag Khababa, Soma Das, Bai-Lin Wu, Stacey Withrow, Nancy Carson, Fred Schaefer, Jessica K. Booker, Karen E. Weck, Rong Mao, Michelle A. Springer, Iris M. Otani, Melissa A Dempsey, Margaret A. Kenna, Marcy L. Hoffmann, John H. Greinwald, Bassem A. Bejjani, Linda Jo Bone Jeng, John C. Carey, Stacey L. Bleoo, Elaine B. Spector, Iris Schrijver, Margaret Lilley, Heidi L. Rehm, William K. Seltzer, Julie M. Gastier-Foster
المصدر: Genetics in Medicine. 9:413-426
مصطلحات موضوعية: Male, Canada, Heterozygote, Hearing loss, Quantitative Trait Loci, Biology, medicine.disease_cause, Compound heterozygosity, Connexins, Gene Frequency, Connexin 30, otorhinolaryngologic diseases, medicine, Humans, Longitudinal Studies, Hearing Loss, Allele frequency, Genetics (clinical), Genetics, Mutation, Homozygote, Genetic Diseases, Inborn, Infant, Newborn, medicine.disease, United States, Connexin 26, Cohort, Etiology, biology.protein, Female, Sensorineural hearing loss, medicine.symptom, GJB6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77164420c9884806ce45c835c3b2b0d3Test
https://doi.org/10.1097/gim.0b013e3180a03276Test -
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المؤلفون: Kay W. Chang, Iris Schrijver
المصدر: International Journal of Pediatric Otorhinolaryngology. 70:2109-2113
مصطلحات موضوعية: Male, Heterozygote, Pathology, medicine.medical_specialty, Genotype, Hearing Loss, Sensorineural, Radiography, Connexin, medicine.disease_cause, Compound heterozygosity, Connexins, Asian People, otorhinolaryngologic diseases, medicine, Humans, Child, Mutation, business.industry, Infant, General Medicine, Prognosis, medicine.disease, Phenotype, Cochlea, Connexin 26, Otorhinolaryngology, Pediatrics, Perinatology and Child Health, Sensorineural hearing loss, business, Gene Deletion, Enlarged vestibular aqueduct
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1799d67e9104551c9081c0d6612806eaTest
https://doi.org/10.1016/j.ijporl.2006.07.015Test -
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المؤلفون: Neng Chen, Iris Schrijver
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 13(12)
مصطلحات موضوعية: Genetics, Base Sequence, DNA Copy Number Variations, DNA Mutational Analysis, Molecular Sequence Data, Restriction Mapping, Cystic Fibrosis Transmembrane Conductance Regulator, Signal Processing, Computer-Assisted, Stereoisomerism, Sequence Analysis, DNA, Biology, Allelic discrimination, Real-Time Polymerase Chain Reaction, Molecular biology, Connexins, Connexin 26, Mutation, otorhinolaryngologic diseases, Humans, Digital polymerase chain reaction, Pathology, Molecular, Genetics (clinical), Cis–trans isomerism, Alleles
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62fa3f049b2f24cea8d79ceaa5a54258Test
https://pubmed.ncbi.nlm.nih.gov/21836520Test -
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المؤلفون: Juan Rodriguez-Paris, Nancy Gelvez, Iris Schrijver, Marta L. Tamayo
المصدر: PLoS ONE, Vol 6, Iss 6, p e21665 (2011)
PLoS ONEمصطلحات موضوعية: Gene Identification and Analysis, Connexin, Gene Expression, lcsh:Medicine, Otology, medicine.disease_cause, Compound heterozygosity, Connexins, Loss of heterozygosity, Pathology, lcsh:Science, Hearing Disorders, Sequence Deletion, Genetics, Mutation, Multidisciplinary, biology, Reverse Transcriptase Polymerase Chain Reaction, Connexin 26, Medicine, Sensorineural hearing loss, medicine.symptom, GJB6, Polymorphism, Restriction Fragment Length, Research Article, Clinical Pathology, Hearing loss, Hearing Loss, Sensorineural, DNA transcription, Molecular Genetics, Genetic Mutation, Diagnostic Medicine, medicine, Connexin 30, otorhinolaryngologic diseases, Humans, Genetic Testing, Allele, Biology, Alleles, Clinical Genetics, lcsh:R, Mutation Types, Computational Biology, Human Genetics, medicine.disease, Molecular biology, Otorhinolaryngology, biology.protein, lcsh:Q, Gene Function
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d114c9cea243338ecac9873c9f60e58Test
http://europepmc.org/articles/PMC3126855?pdf=renderTest -
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المؤلفون: Lynn Pique, Joseph B. Roberson, Tahl Y. Colen, Juan Rodriguez-Paris, Iris Schrijver, Phyllis Gardner
المصدر: PLoS ONE, Vol 5, Iss 7, p e11804 (2010)
PLoS ONEمصطلحات موضوعية: Microarray, Genotype, Hearing loss, Anion Transport Proteins, Pediatrics and Child Health, lcsh:Medicine, medicine.disease_cause, Primer extension, Connexins, medicine, otorhinolaryngologic diseases, Humans, Hearing Loss, lcsh:Science, Genotyping, Genetics and Genomics/Genetics of Disease, Oligonucleotide Array Sequence Analysis, Genetics, Genetics and Genomics/Medical Genetics, Mutation, Multidisciplinary, biology, lcsh:R, Genetics and Genomics, Connexin 26, Sulfate Transporters, biology.protein, lcsh:Q, DNA microarray, medicine.symptom, GJB6, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f3c5b48395e1752ba5ffbfdf7a3a70fTest
http://europepmc.org/articles/PMC2909915?pdf=renderTest