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المؤلفون: Ronald J.E. Pennings, Eline van Beelen, Andy J. Beynon, Hannie Kremer, Jaap Oostrik, Jeroen Smits, Cornelis P. Lanting, Patrick L. M. Huygen, N.J.D. Weegerink, Erik de Vrieze, Henricus P. M. Kunst, Margit Schraders
المصدر: Otology & Neurotology, 42, e399-e407
Otology & Neurotology, 42, 4, pp. e399-e407مصطلحات موضوعية: Adult, medicine.medical_specialty, Adolescent, Hearing loss, Hearing Loss, Sensorineural, DNA Mutational Analysis, Audiology, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Young Adult, 03 medical and health sciences, 0302 clinical medicine, Genotype-phenotype distinction, Genetic linkage, Genotype, otorhinolaryngologic diseases, Humans, Medicine, 030223 otorhinolaryngology, Extracellular Matrix Proteins, medicine.diagnostic_test, business.industry, Middle Aged, medicine.disease, Sensory Systems, Pedigree, Variable number tandem repeat, Phenotype, Otorhinolaryngology, Mutation, Mutation (genetic algorithm), Organismal Animal Physiology, Sensorineural hearing loss, Neurology (clinical), Pure tone audiometry, medicine.symptom, business, 030217 neurology & neurosurgery, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9352e3dc3d6692af3f6b9ff24fe08725
https://doi.org/10.1097/MAO.0000000000003004 -
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المؤلفون: Andy J. Beynon, Anne M.M. Oonk, Ronald J.E. Pennings, Ad F. M. Snik, Joop M. Leijendeckers, Patrick L. M. Huygen, Hannie Kremer, Henricus P. M. Kunst, Jaap Oostrik, N.J.D. Weegerink, E.M. Lammers
المصدر: Hearing Research, 299, 88-98
Hearing Research, 299, pp. 88-98مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Heredity, Adolescent, Hearing loss, Hearing Loss, Sensorineural, DNA Mutational Analysis, Mutation, Missense, Presbycusis, DCN PAC - Perception action and control, Audiology, medicine.disease_cause, Loudness, Young Adult, Hearing, medicine, otorhinolaryngologic diseases, Missense mutation, Humans, Genetic Predisposition to Disease, Child, Aged, Aged, 80 and over, Myosin Heavy Chains, business.industry, Age Factors, Auditory Threshold, Audiogram, Middle Aged, Genetics and epigenetic pathways of disease Plasticity and memory [NCMLS 6], medicine.disease, Sensory Systems, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Pedigree, Phenotype, Acoustic Stimulation, Mutation (genetic algorithm), Disease Progression, Speech Perception, Audiometry, Pure-Tone, Sensorineural hearing loss, Female, Vestibule, Labyrinth, medicine.symptom, business, Audiometry, Speech
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المؤلفون: Margit Schraders, Mariet W. Elting, Tim M. Strom, Hanka Venselaar, Susanne Granneman, Patrick L. M. Huygen, Cor W. R. J. Cremers, Jaap Oostrik, N.J.D. Weegerink, Henricus P. M. Kunst, Lies H. Hoefsloot, Ronald J.C. Admiraal, Ronald J.E. Pennings, Hannie Kremer
المساهمون: Human genetics, Other Research
المصدر: Journal of the Association for Research in Otolaryngology, 12, 753-66
Journal of the Association for Research in Otolaryngology, 12(6), 753-766. Springer New York
JARO: Journal of the Association for Research in Otolaryngology
J. Assoc. Res. Otolaryngol. 12, 756-766 (2011)
Journal of the Association for Research in Otolaryngology, 12, 6, pp. 753-66
Weegerink, N J D, Schraders, M, Oostrik, J, Huygen, P L M, Strom, T M, Granneman, S, Pennings, R J E, Venselaar, H, Hoefsloot, L H, Elting, M W, Cremers, C W R J, Admiraal, R J C, Kremer, H & Kunst, H P M 2011, ' Genotype-Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations ', Journal of the Association for Research in Otolaryngology, vol. 12, no. 6, pp. 753-766 . https://doi.org/10.1007/s10162-011-0282-3مصطلحات موضوعية: Male, Genetic Linkage, Compound heterozygosity, medicine.disease_cause, Protein Structure, Secondary, 0302 clinical medicine, ski-slope audiogram, Perception and Action [DCN 1], Missense mutation, Child, DFNB8/10, Genetics, 0303 health sciences, Mutation, medicine.diagnostic_test, Serine Endopeptidases, Audiogram, TMPRSS3 mutations, Cochlear Implantation, Phenotype, Sensory Systems, Neoplasm Proteins, Pedigree, 3. Good health, Child, Preschool, Audiometry, Pure-Tone, Female, medicine.symptom, Chemical and physical biology [NCMLS 7], Adult, Adolescent, Hearing loss, Mutation, Missense, Biology, Article, genotype–phenotype correlations, Genomic disorders and inherited multi-system disorders [IGMD 3], Hearing Loss, Bilateral, Young Adult, 03 medical and health sciences, medicine, Humans, Profound hearing impairment, Genetic Association Studies, 030304 developmental biology, Family Health, Infant, Membrane Proteins, Genetics and epigenetic pathways of disease Neuroinformatics [NCMLS 6], Protein Structure, Tertiary, Amino Acid Substitution, Otorhinolaryngology, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], cochlear implantation, genotype-phenotype correlations, Audiometry, Audiometry, Speech, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Margit Schraders, Jaap Oostrik, Patrick L. M. Huygen, N.J.D. Weegerink, Ronald J.E. Pennings, Henricus P. M. Kunst, Hannie Kremer, Vera M. Kalscheuer, Sriram Kannan, Stefan A. Haas, Ronald J.C. Admiraal, Lies H. Hoefsloot, Hao Hu
المصدر: American Journal of Human Genetics, 88, 5, pp. 628-34
American Journal of Human Genetics, 88, 628-34مصطلحات موضوعية: Adult, Male, Candidate gene, Adolescent, Hearing loss, DNA Mutational Analysis, Nonsense mutation, Muscle Proteins, Locus (genetics), Biology, Bioinformatics, Polymorphism, Single Nucleotide, Frameshift mutation, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, 03 medical and health sciences, 0302 clinical medicine, Genes, X-Linked, Report, medicine, Perception and Action [DCN 1], Genetics, otorhinolaryngologic diseases, Humans, Genetics(clinical), Insulin-Like Growth Factor I, Child, Frameshift Mutation, Hearing Loss, Gene, Progressive hearing impairment, Genetics (clinical), X chromosome, 030304 developmental biology, 0303 health sciences, Molecular Sequence Annotation, Middle Aged, Glycostation disorders [IGMD 4], Pedigree, Genetics and epigenetic pathways of disease Neuroinformatics [NCMLS 6], Codon, Nonsense, Child, Preschool, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], Female, medicine.symptom, Sequence Analysis, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Ronald J.E. Pennings, Lies H. Hoefsloot, N.J.D. Weegerink, Henricus P. M. Kunst, Patrick L. M. Huygen, Cor W. R. J. Cremers
المصدر: Annals of Otology, Rhinology and Laryngology, 120, 3, pp. 191-7
Annals of Otology, Rhinology and Laryngology, 120, 191-7مصطلحات موضوعية: Male, medicine.medical_specialty, Hearing Loss, Sensorineural, Mutation, Missense, Audiology, Connexins, Genomic disorders and inherited multi-system disorders [IGMD 3], Temporal bone, Profound sensorineural hearing impairment, otorhinolaryngologic diseases, Perception and Action [DCN 1], Medicine, Humans, Cochlear implantation, Child, Netherlands, biology, business.industry, Temporal Bone, General Medicine, Vestibular Function Tests, Phenotype, Connexin 26, Otorhinolaryngology, Amino Acid Substitution, Mutation (genetic algorithm), Mutation testing, biology.protein, Speech audiometry, Audiometry, Pure-Tone, Female, business, Audiometry, Speech, Tomography, X-Ray Computed, Functional Neurogenomics [DCN 2], GJB6
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المؤلفون: N.J.D. Weegerink, Jaap Oostrik, Henricus P. M. Kunst, Margit Schraders, Ad F. M. Snik, Lies H. Hoefsloot, Hubertus P. H. Kremer, K. Slieker, Ronald J.E. Pennings, Joop M. Leijendeckers, Anna Simon, Patrick L. M. Huygen
المصدر: Hearing Research, 282, 1-2, pp. 243-51
Hearing Research, 282, 243-51مصطلحات موضوعية: Male, Heredity, Genetics and epigenetic pathways of disease [NCMLS 6], Loudness Perception, DNA Mutational Analysis, Otoscopy, Audiology, Loudness, Child, Progressive hearing impairment, Netherlands, medicine.diagnostic_test, Reflex, Vestibulo-Ocular, Middle Aged, Sensory Systems, Pedigree, Phenotype, Child, Preschool, Auditory Perception, Disease Progression, Speech Perception, Audiometry, Pure-Tone, Female, Pure tone audiometry, medicine.symptom, Poverty-related infectious diseases Infectious diseases and international health [N4i 3], Perceptual Masking, Functional Neurogenomics [DCN 2], Adult, medicine.medical_specialty, Adolescent, Hearing loss, Conductive hearing impairment, Genomic disorders and inherited multi-system disorders [IGMD 3], Muckle–Wells syndrome, Young Adult, Predictive Value of Tests, NLR Family, Pyrin Domain-Containing 3 Protein, otorhinolaryngologic diseases, medicine, Humans, Genetic Predisposition to Disease, Acoustic reflex, Hearing Loss, business.industry, Auditory Threshold, Vestibular Function Tests, medicine.disease, Cryopyrin-Associated Periodic Syndromes, Reflex, Acoustic, Interleukin 1 Receptor Antagonist Protein, Acoustic Stimulation, Mutation, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], Linear Models, Audiometry, business, Audiometry, Speech, Carrier Proteins, Noise
وصف الملف: application/pdf
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المؤلفون: Patrick L. M. Huygen, Erik Fransen, Charlotte Claes, G. Van Camp, N.J.D. Weegerink, Cor W. R. J. Cremers, Henricus P. M. Kunst, Ronald J.E. Pennings, Isabelle Schrauwen
المصدر: Clinical Genetics, 79, 495-7
Clinical Genetics, 79, 5, pp. 495-7
Clinical geneticsمصطلحات موضوعية: Male, Genetics, Denmark, Chromosome Mapping, Locus (genetics), Glycostation disorders [IGMD 4], Biology, medicine.disease, Pedigree, Otosclerosis, Chromosomes, Human, Pair 1, Perception and Action [DCN 1], medicine, Humans, Female, Human medicine, Genetics (clinical)
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المؤلفون: Henricus P. M. Kunst, Margit Schraders, N.J.D. Weegerink, Ronald J.E. Pennings, Hubertus P. H. Kremer, Patrick L. M. Huygen
المصدر: Hearing Research, 282, pp. 167-77
Hearing Research, 282, 167-77مصطلحات موضوعية: Male, Heredity, Muscle Proteins, Presbycusis, Otoscopy, Audiology, Severity of Illness Index, Linkage Disequilibrium, Age of Onset, Young adult, Child, Netherlands, medicine.diagnostic_test, Reflex, Vestibulo-Ocular, Middle Aged, Sensory Systems, Phenotype, Child, Preschool, Auditory Perception, Disease Progression, Speech Perception, Audiometry, Pure-Tone, Female, medicine.symptom, Adult, medicine.medical_specialty, Adolescent, Hearing loss, Hearing Loss, Sensorineural, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Sex Factors, Severity of illness, otorhinolaryngologic diseases, medicine, Humans, Genetic Predisposition to Disease, Medical history, business.industry, Genetic heterogeneity, Auditory Threshold, medicine.disease, Genetics and epigenetic pathways of disease Neuroinformatics [NCMLS 6], Persons With Hearing Impairments, Acoustic Stimulation, Nonlinear Dynamics, Mutation, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], Linear Models, Audiometry, Age of onset, Audiometry, Speech, business
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المؤلفون: Ronald J.E. Pennings, Henricus P. M. Kunst, Patrick L. M. Huygen, N.J.D. Weegerink, Guy Van Camp, Isabelle Schrauwen, Cor W. R. J. Cremers
المصدر: Laryngoscope, 121, 838-45
Laryngoscope, 121, 4, pp. 838-45
The laryngoscopeمصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Genotype, Genetic Linkage, Otoscopy, Penetrance, Audiology, Genomic disorders and inherited multi-system disorders [IGMD 3], Perception and Action [DCN 1], medicine, Humans, Medical history, Longitudinal Studies, Genes, Dominant, Chromosome Aberrations, medicine.diagnostic_test, business.industry, Genetic Carrier Screening, Retrospective cohort study, Audiogram, Middle Aged, Tympanometry, medicine.disease, Reflex, Acoustic, Pedigree, Stapes Mobilization, Cross-Sectional Studies, Otosclerosis, Phenotype, Acoustic Impedance Tests, Haplotypes, Otorhinolaryngology, Genetic Loci, Audiometry, Pure-Tone, Female, Human medicine, Audiometry, Age of onset, business, Functional Neurogenomics [DCN 2]
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