-
1
المؤلفون: C.W.R.J. Cremers, Erwin van Wijk, H. Kremer, Frans P.M. Cremers
المصدر: Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Temporal bone, Medicine, Audiology, Mixed deafness, business
-
2
المصدر: International Journal of Pediatric Otorhinolaryngology. 72:1455-1459
مصطلحات موضوعية: Otorhinolaryngology, Pediatrics, Perinatology and Child Health, General Medicine
-
3
المؤلفون: Yurii S. Aulchenko, Kim P. van der Donk, C.W.R.J. Cremers, Martijn H. Kemperman, Patrick L.M. Huygen, Ilse J. de Wijs, H. Kremer, Ronald J.C. Admiraal, L. H. Hoefsloot, Regie Lyn P. Santos
المصدر: International Journal of Pediatric Otorhinolaryngology, 69, 2, pp. 165-74
International Journal of Pediatric Otorhinolaryngology, 69, 165-74مصطلحات موضوعية: Male, Oncology, Genetics and epigenetic pathways of disease [NCMLS 6], Compound heterozygosity, medicine.disease_cause, Severity of Illness Index, Connexins, Genotype, Perception and Action [DCN 1], Neurosensory disorders [UMCN 3.3], Missense mutation, Child, Netherlands, Genetics, Mutation, medicine.diagnostic_test, biology, General Medicine, Audiogram, Connexin 26, Child, Preschool, Female, medicine.symptom, Functional Neurogenomics [DCN 2], GJB6, Adult, Heterozygote, medicine.medical_specialty, Adolescent, Hearing loss, Molecular Sequence Data, Genomic disorders and inherited multi-system disorders [IGMD 3], Audiometry, Internal medicine, otorhinolaryngologic diseases, medicine, Humans, Amino Acid Sequence, Hearing Loss, Retrospective Studies, Polymorphism, Genetic, business.industry, Genetic defects of metabolism [UMCN 5.1], Otorhinolaryngology, Pediatrics, Perinatology and Child Health, biology.protein, business, Follow-Up Studies
وصف الملف: application/pdf
-
4
المؤلفون: E.M.R. De Leenheer, Melissa Thys, Wenjie Chen, Y Lee, Peter Nürnberg, C.W.R.J. Cremers, Richard J.H. Smith, K Van Den Bogaert, G. Van Camp, Ronald J.E. Pennings, Kathleen Vanderstraeten
المصدر: Journal of Medical Genetics, 41, 6, pp. 450-3
Journal of medical genetics
Journal of Medical Genetics, 41, 450-3
Scopus-Elsevierمصطلحات موضوعية: Adult, Male, Genotype, Locus (genetics), Biology, Genetic linkage, Genetics, medicine, Humans, Neurosensory disorders [UMCN 3.3], Genetic Predisposition to Disease, Genetics (clinical), Aged, Netherlands, Stapes, Family Health, medicine.diagnostic_test, Oval window, Chromosome Mapping, Middle Aged, medicine.disease, Pedigree, Otosclerosis, medicine.anatomical_structure, Etiology, Female, Chromosomes, Human, Pair 3, Lod Score, Audiometry, Letter to JMG, Microsatellite Repeats
وصف الملف: application/pdf
-
5
المؤلفون: C.W.R.J. Cremers, A.F.M. Snik
المصدر: Clinical Otolaryngology and Allied Sciences, 29, 5-9
Clinical Otolaryngology and Allied Sciences, 29, 1, pp. 5-9مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Hearing loss, Incus, Transducers, Audiology, medicine, otorhinolaryngologic diseases, Neurosensory disorders [UMCN 3.3], Humans, Fixation (histology), Ear Ossicles, Orthodontics, Ossicular chain, business.industry, Bone Cements, Auditory Threshold, Middle Aged, Middle Ear Implant, Bone cement, Ossicular Prosthesis, Transducer, Ossicular Replacement, Otorhinolaryngology, Audiometry, Pure-Tone, Female, medicine.symptom, business
وصف الملف: application/pdf
-
6
المؤلفون: Patrick L. M. Huygen, G. van Duijnhoven, Hubertus P. H. Kremer, Mirjam W. J. Luijendijk, Grétel Oudesluijs, F.P.M. Cremers, Anne M. L. C. Bischoff, E.M.R. De Leenheer, C.W.R.J. Cremers, L. Van Laer
المصدر: Audiology and Neurotology. 9:34-46
مصطلحات موضوعية: medicine.medical_specialty, Physiology, Hearing loss, business.industry, Intron, Audiology, Sensorineural hearing impairment, Sensory Systems, Speech and Hearing, Exon, Otorhinolaryngology, Mutation (genetic algorithm), DFNA5 gene, otorhinolaryngologic diseases, medicine, splice, medicine.symptom, business, Decibel
-
7
المؤلفون: Patrick L. M. Huygen, C.W.R.J. Cremers, E.M.R. De Leenheer, Martijn H. Kemperman, E van Wijk, F. P. M. Cremers, Elmar Krieger, H. Kremer
المصدر: Journal of Medical Genetics, 40, 879-84
Journal of Medical Genetics, 40, 12, pp. 879-84مصطلحات موضوعية: Male, Models, Molecular, Gene isoform, Candidate gene, Hearing Loss, Sensorineural, Molecular Sequence Data, Mutation, Missense, Locus (genetics), Biology, Germline mutation, Protein structure, Genetics, Neurosensory disorders [UMCN 3.3], Humans, Missense mutation, Genetic Predisposition to Disease, Gene, Genetics (clinical), Actin, Base Sequence, Actins, Pedigree, Genetic defects of metabolism [UMCN 5.1], Female, Original Article, Cellular energy metabolism [UMCN 5.3], Sequence Analysis
-
8
المؤلفون: S. Ceruti, C.W.R.J. Cremers, J.W. Casselman, C.I.C. Stinckens
المصدر: Otology & Neurotology, 23, 2, pp. 200-7
Otology & Neurotology, 23, 200-7مصطلحات موضوعية: Adult, Male, Vestibular aqueduct, Adolescent, Temporal bone, otorhinolaryngologic diseases, medicine, Medical imaging, Humans, Gehoor en communicatie, Prospective Studies, Vestibular system, Fourier Analysis, medicine.diagnostic_test, Semicircular canal, business.industry, Temporal Bone, Ear, Magnetic resonance imaging, Anatomy, equipment and supplies, medicine.disease, Magnetic Resonance Imaging, Sensory Systems, Hypoplasia, Pedigree, medicine.anatomical_structure, Otorhinolaryngology, Child, Preschool, Hearing and Communication Disorders, Middle ear, Female, sense organs, Neurology (clinical), Tomography, X-Ray Computed, business, human activities, Branchio-Oto-Renal Syndrome
-
9
المؤلفون: Richard J.H. Smith, M. Verstreken, E.M.R. De Leenheer, F.E. Offeciers, P. Van de Heyning, Wenjie Chen, C.W.R.J. Cremers, K Van Den Bogaert, T. Somers, Frank Declau, G. Van Camp, Paul J. Govaerts, Isabelle Schatteman
المصدر: Bone, 30, 624-630
Bone, 30, 4, pp. 624-630
Boneمصطلحات موضوعية: Male, Histology, Physiology, Genetic Linkage, Endocrinology, Diabetes and Metabolism, Locus (genetics), Chromosome 15, Genetic Heterogeneity, Genetic linkage, Genotype, Medicine, Humans, Gehoor en communicatie, Genes, Dominant, Chromosome 7 (human), Genetics, Family Health, Chromosomes, Human, Pair 15, Genetic heterogeneity, business.industry, medicine.disease, Pedigree, Otosclerosis, Haplotypes, Hearing and Communication Disorders, Microsatellite, Female, business, Chromosomes, Human, Pair 7, Microsatellite Repeats
-
10
المؤلفون: E.M.R. De Leenheer, Martijn H. Kemperman, C.W.R.J. Cremers, G. Van Camp, F. P. M. Cremers, Arjan J. Bosman, Henri A. M. Marres, Francois X Lemaire, R.J.H. Ensink, Steven J. H. Bom, Patrick L. M. Huygen, Wim I. M. Verhagen, Henricus P. M. Kunst
المصدر: Archives of otolaryngology, head and neck surgery
Archives of Otolaryngology--Head & Neck Surgery, 127, 1045-8
Archives of Otolaryngology--Head & Neck Surgery, 127, 9, pp. 1045-8مصطلحات موضوعية: Adult, medicine.medical_specialty, Speech perception, Potassium Channels, Cross-sectional study, Hearing loss, Elucidation of hereditary disorders and their molecular diagnosis, Speech recognition, Audiology, Severity of Illness Index, Severity of illness, medicine, otorhinolaryngologic diseases, Gehoor en communicatie, Humans, Hearing Loss, High-Frequency, Aged, Absolute threshold of hearing, KCNQ Potassium Channels, business.industry, Age Factors, General Medicine, Middle Aged, Cross-Sectional Studies, Otorhinolaryngology, Hearing level, El Niño, Potassium Channels, Voltage-Gated, Hearing and Communication Disorders, Speech Perception, Surgery, medicine.symptom, Opheldering van erfelijke ziekten en hun moleculaire diagnostiek, business, KCNQ4
-
11
المؤلفون: Henri A. M. Marres, Patrick L. M. Huygen, Henricus P. M. Kunst, G. Van Camp, C. Huybrechts, C.W.R.J. Cremers
المصدر: American Journal of Otolaryngology. 21:181-187
مصطلحات موضوعية: Proband, medicine.medical_specialty, Absolute threshold of hearing, medicine.diagnostic_test, business.industry, High-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment, Audiogram, Audiology, Penetrance, Otorhinolaryngology, Electronystagmography, otorhinolaryngologic diseases, Medicine, Audiometry, business
-
12
المؤلفون: Paul Coucke, Patrick L. M. Huygen, P. van Hauwe, R.J.H. Ensink, C.W.R.J. Cremers, G. Van Camp
المصدر: European Archives of Oto-Rhino-Laryngology, 257, 62-67
European archives of oto-rhino-laryngology
European Archives of Oto-Rhino-Laryngology, 257, pp. 62-67مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Genetic Linkage, Hearing loss, Hearing Loss, Sensorineural, Erfelijk gehoorverlies, Chromosome Disorders, Audiology, Genetics of hearing, Audiometry, Dna genetics, otorhinolaryngologic diseases, Humans, Medicine, Child, Aged, Genes, Dominant, Netherlands, Aged, 80 and over, Chromosome Aberrations, medicine.diagnostic_test, business.industry, Progressive sensorineural hearing impairment, DNA, General Medicine, Audiogram, Middle Aged, Congenital impairment, Pedigree, Phenotype, Otorhinolaryngology, Linear Models, Head and neck surgery, Female, medicine.symptom, business, Lod scores
-
13
المؤلفون: S. Velde, Alice Krebsová, C.W.R.J. Cremers, André Reis, G. Duijnhoven, F. Cremers, Patrick L. M. Huygen, Henricus P. M. Kunst, Henri A. M. Marres
المصدر: Clinical Otolaryngology, 25, 45-54
Clinical Otolaryngology, 25, pp. 45-54مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Identificatie van genen betrokken bij erfelijke doofheid, Genetic Linkage, Hearing Loss, Sensorineural, Erfelijk gehoorverlies, Locus (genetics), Late onset, Audiology, Variable Expression, Genetics of hearing, Audiometry, Genetic linkage, Linear regression, medicine, Humans, Age of Onset, Child, Genes, Dominant, Absolute threshold of hearing, business.industry, Identification of genes involved in inherited deafness, Autosomal dominant trait, Regression analysis, Middle Aged, Pedigree, Cross-Sectional Studies, Otorhinolaryngology, Regression Analysis, Chromosomes, Human, Pair 6, Female, Tumorimmunology, business
-
14
المؤلفون: G. Van Camp, Paul Coucke, P. van Hauwe, R.J.H. Ensink, Patrick L. M. Huygen, C.W.R.J. Cremers
المصدر: American Journal of Medical Genetics, 93, 184-187
American Journal of Medical Genetics, 93, 3, pp. 184-187
American journal of medical geneticsمصطلحات موضوعية: Genetics, Hearing loss, Connexin, Erfelijk gehoorverlies, Locus (genetics), Biology, Genetics of hearing, medicine, Gene family, Coding region, Missense mutation, medicine.symptom, Gene, Genetics (clinical), KCNQ4
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c689016737ed8b0b0317dcbffc07ddfe
https://doi.org/10.1002/1096-8628(20000731)93:3<184::aid-ajmg4>3.0.co;2-5 -
15
المؤلفون: C.T.M. van der Pouw, C.W.R.J. Cremers, Ad F. M. Snik
المصدر: Clinical Otolaryngology, 24, 171-176
Clinical Otolaryngology, 24, pp. 171-176مصطلحات موضوعية: Adult, Male, Bone anchored hearing aid, medicine.medical_specialty, Time Factors, Adolescent, Hearing loss, Hearing Loss, Conductive, Bone-conduction hearing aid, Audiology, Hearing Aids, Patient satisfaction, Bone conduction, Acquired immunodeficiency syndrome (AIDS), Surveys and Questionnaires, Humans, Medicine, Child, Aged, Retrospective Studies, Aged, 80 and over, Speech Reception Threshold Test, medicine.diagnostic_test, business.industry, Auditory Threshold, Retrospective cohort study, Bone-anchored hearing aid, Equipment Design, Middle Aged, medicine.disease, Acoustic Stimulation, Otorhinolaryngology, Evaluation Studies as Topic, Patient Satisfaction, Speech Perception, Audiometry, Pure-Tone, Female, In het schedelbeen verankerd hoortoestel (BAHA) en de Vibrant Soundbridge (Symphonix), Audiometry, medicine.symptom, business, Bone Conduction
-
16
المؤلفون: A.F.M. Snik, C.W.R.J. Cremers
المصدر: International Journal of Audiology. 38:335-338
مصطلحات موضوعية: Adult, Male, Linguistics and Language, medicine.medical_specialty, Hearing Loss, Sensorineural, Loudness Perception, Acoustics, Transducers, Incus, Severe sensorineural hearing loss, Audiology, Language and Linguistics, Loudness, Prosthesis Implantation, Speech and Hearing, Hearing Aids, Audiometry, Wide dynamic range, otorhinolaryngologic diseases, medicine, Humans, Aged, business.industry, Amplifier, Equipment Design, Middle Aged, Middle Ear Implant, medicine.disease, Transducer, Speech Perception, Female, Sensorineural hearing loss, business
-
17
المؤلفون: Koenraad Devriendt, Nathalie Rommel, Greta Vantrappen, Jean-Pierre Frijns, C.W.R.J. Cremers
المصدر: International Journal of Pediatric Otorhinolaryngology. 45:133-141
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Hearing loss, business.industry, Velo-cardio-facial syndrome, General Medicine, Long arm, medicine.disease, Surgery, Velopharyngeal insufficiency, Otorhinolaryngology, El Niño, Communication disorder, DiGeorge syndrome, Pediatrics, Perinatology and Child Health, medicine, medicine.symptom, business, Chromosome 22
-
18
المؤلفون: C.W.R.J. Cremers, Guy Van Camp, R.J.H. Ensink
المصدر: Clinical Otolaryngology, 23, 3-8
Clinical otolaryngology & allied sciences
Clinical Otolaryngology, 23, pp. 3-8مصطلحات موضوعية: Male, medicine.medical_specialty, business.industry, Hearing loss, Hearing Loss, Sensorineural, Extrachromosomal Inheritance, Erfelijk gehoorverlies, Syndrome, Deafness, Presbycusis, Audiology, DNA, Mitochondrial, Anti-Bacterial Agents, Aminoglycosides, Genetics of hearing, Otorhinolaryngology, Humans, Point Mutation, Medicine, Female, Human medicine, medicine.symptom, Hearing Loss, business
-
19
المؤلفون: A. van Aarem, C.W.R.J. Cremers, H.L. Muytjens, M.M. Smits
المصدر: International Journal of Pediatric Otorhinolaryngology, 43, 61
International Journal of Pediatric Otorhinolaryngology, 43, pp. 61مصطلحات موضوعية: Male, Mastoiditis, medicine.medical_specialty, Mycobacterium Infections, Nontuberculous, Microbial Sensitivity Tests, Drug resistance, Pathogenese, epidemiologie en behandeling van microbiële infecties, Mycobacterium abscessus, Pathogenesis, epidemiology, and treatment of microbial infections, Pharmacotherapy, Recurrence, Clarithromycin, Humans, Medicine, Abscess, Diagnosis and treatment of hearing disorders, biology, business.industry, Mycobacterium chelonae, General Medicine, bacterial infections and mycoses, medicine.disease, biology.organism_classification, Drug Resistance, Multiple, Anti-Bacterial Agents, Surgery, Diagnostiek en behandeling van gehoorstoornissen, medicine.anatomical_structure, Otitis, Otorhinolaryngology, Child, Preschool, Pediatrics, Perinatology and Child Health, Middle ear, Drug Therapy, Combination, medicine.symptom, business, Follow-Up Studies, Mycobacterium
-
20
المصدر: Clinical Otolaryngology, 23, 1, pp. 9-17
Clinical Otolaryngology, 23, 9-17
Clinical otolaryngologyمصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Genotype, Field (physics), Hearing Loss, Sensorineural, Erfelijk gehoorverlies, Audiology, Genetics of hearing, Audiometry, medicine, Humans, Child, Aged, Genes, Dominant, business.industry, Chromosome Mapping, Middle Aged, medicine.disease, Pedigree, Phenotype, Otorhinolaryngology, Child, Preschool, Female, Sensorineural hearing loss, business, Non syndromic