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1دورية أكاديمية
المؤلفون: Sybren M. M. Robijn, Jeroen J. Smits, Kadriye Sezer, Patrick L. M. Huygen, Andy J. Beynon, Erwin van Wijk, Hannie Kremer, Erik de Vrieze, Cornelis P. Lanting, Ronald J. E. Pennings
المصدر: Biomolecules, Vol 12, Iss 2, p 220 (2022)
مصطلحات موضوعية: DFNA9, COCH, genotype-phenotype correlations, systematic review, autosomal dominant hearing loss, vestibular diseases, Microbiology, QR1-502
وصف الملف: electronic resource
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المؤلفون: Sybren M M, Robijn, Jeroen J, Smits, Kadriye, Sezer, Patrick L M, Huygen, Andy J, Beynon, Erwin, van Wijk, Hannie, Kremer, Erik, de Vrieze, Cornelis P, Lanting, Ronald J E, Pennings
المصدر: Biomolecules. 12(2)
مصطلحات موضوعية: Extracellular Matrix Proteins, Vestibular Diseases, Hearing Loss, Sensorineural, Mutation, Humans, Prospective Studies, Genetic Association Studies
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3دورية أكاديمية
المؤلفون: Hela Azaiez, Amanda R Decker, Kevin T Booth, Allen C Simpson, A Eliot Shearer, Patrick L M Huygen, Fengxiao Bu, Michael S Hildebrand, Paul T Ranum, Seiji B Shibata, Ann Turner, Yuzhou Zhang, William J Kimberling, Robert A Cornell, Richard J H Smith
المصدر: PLoS Genetics, Vol 11, Iss 3, p e1005137 (2015)
وصف الملف: electronic resource
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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: Patrick L. M. Huygen, Fernando Mayo, M. Villamar, Matías Morín, D. Tellería, M. Lachgar, Hela Azaiez, L. Sa ntos Serrão de Castro, Kevin T. Booth, L. Borreguero, C. Morales, B Arellano, L.C. Barrio, I del Castillo, Richard J.H. Smith, Moreno Pelayo
المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-17 (2020)
Scientific Reports, 10
Scientific Reportsمصطلحات موضوعية: Male, Models, Molecular, DNA Copy Number Variations, Hearing loss, Hearing Loss, Sensorineural, Mutation, Missense, lcsh:Medicine, Biology, Article, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Exon, Chlorocebus aethiops, Genetics, medicine, Animals, Humans, Frameshift Mutation, lcsh:Science, Gene, Silent Mutation, Multidisciplinary, lcsh:R, Genomics, Stop codon, Exon skipping, Pedigree, Codon, Nonsense, Spain, COS Cells, Mutation, RNA splicing, Trans-Activators, Female, lcsh:Q, medicine.symptom, Haploinsufficiency, Minigene
وصف الملف: application/pdf
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المؤلفون: Myrthe K. S. Hol, Henricus P. M. Kunst, Cor W. R. J. Cremers, Patrick L. M. Huygen, Ronald J.E. Pennings, Joost J A Stultiens, Anne M.M. Oonk, Jef J. S. Mulder, Emmanuel A. M. Mylanus
المصدر: Otology & Neurotology, 40(5S Suppl 1), S43-S50. LIPPINCOTT WILLIAMS & WILKINS
Otology & Neurotology, 40, S43-s50
Otology & Neurotology, 40, 5S Suppl 1, pp. S43-s50مصطلحات موضوعية: Male, CONGENITAL AURAL ATRESIA, Acquired atresia, DEVICE, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 0302 clinical medicine, Hearing, Medicine, 030223 otorhinolaryngology, Child, External auditory canal, OUTCOMES, Ear, Middle Aged, Meatoplasty, Sensory Systems, ALLERGY, Treatment Outcome, Hearing results, SURGICAL-TREATMENT, Cohort, Female, Otologic Surgical Procedures, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, Adolescent, CANALPLASTY, STENOSIS, Auditory canal, External ear surgery, Congenital Abnormalities, 03 medical and health sciences, Bone conduction, otorhinolaryngologic diseases, MANAGEMENT, Humans, Aged, Retrospective Studies, Ossicular chain, business.industry, Retrospective cohort study, Hearing loss, External ear malformation, Surgery, Otorhinolaryngology, GRANULAR MYRINGITIS, sense organs, Neurology (clinical), business, 030217 neurology & neurosurgery, Aural stenosis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3951f3da986891601b1ce74e6fe4a7f
https://pubmed.ncbi.nlm.nih.gov/31225822 -
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المؤلفون: William J. Kimberling, Patrick L. M. Huygen, James W. Askew, Katherine R. Smith, Denise M. Hoover, Kevin T. Booth, Judith B. Kenyon, Richard J.H. Smith, Shelley D. Smith, Zohreh Talebizadeh, Hela Azaiez, James D. Eudy, Melanie Bahlo, Michael S. Hildebrand
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine, 21, 948-954
Genetics in Medicine, 21, 4, pp. 948-954مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Genotype, Hearing loss, Wolfram syndrome, Genetic Linkage, Locus (genetics), 030105 genetics & heredity, Biology, Deafness, Collagen Type XI, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Article, COL11A1, 03 medical and health sciences, Young Adult, All institutes and research themes of the Radboud University Medical Center, Genetic linkage, Exome Sequencing, otorhinolaryngologic diseases, medicine, Humans, Protein Isoforms, Stickler syndrome, Exome, Nonsyndromic deafness, Child, Genetics (clinical), Exome sequencing, Genetics, Infant, Newborn, Infant, non-syndromic hearing loss, medicine.disease, Pedigree, 030104 developmental biology, Phenotype, Child, Preschool, splice-site variant, Female, medicine.symptom, DFNA37
وصف الملف: application/pdf
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المؤلفون: E.A. Black-Ziegelbein, S.B. Shibata, Nicole C. Meyer, Hela Azaiez, Patrick L. M. Huygen, Aiden Eliot Shearer, Kevin T. Booth, Richard J.H. Smith, Fengxiao Bu, Diana L. Kolbe
المصدر: Human Mutation, 35, 7, pp. 819-23
Human Mutation, 35, 819-23مصطلحات موضوعية: Male, Hearing loss, DNA Mutational Analysis, Molecular Sequence Data, Gene Expression, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Nerve Tissue Proteins, Deafness, Biology, medicine.disease_cause, Article, DOOR syndrome, otorhinolaryngologic diseases, Genetics, medicine, Humans, Exome, Amino Acid Sequence, Gene, Genetics (clinical), Cochlea, Genes, Dominant, Mutation, Massive parallel sequencing, GTPase-Activating Proteins, High-Throughput Nucleotide Sequencing, Membrane Proteins, medicine.disease, Phenotype, Pedigree, Female, medicine.symptom, Carrier Proteins, Sequence Alignment
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المؤلفون: Ronald J.E. Pennings, Patrick L. M. Huygen, Henricus P. M. Kunst, Lies H. Hoefsloot, Ad F. M. Snik, Ronald J.C. Admiraal, E. van Beelen, Joop M. Leijendeckers
المصدر: Audiology and Neurotology. 19:106-114
مصطلحات موضوعية: Vestibular system, medicine.medical_specialty, Physiology, business.industry, GATA3, Audiogram, Audiology, medicine.disease, Sensory Systems, Loudness, Speech and Hearing, medicine.anatomical_structure, Otorhinolaryngology, Hypoparathyroidism, New mutation, otorhinolaryngologic diseases, medicine, Hair cell, business, Flat audiogram
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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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