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المؤلفون: David M. Albert, Ben Hartley, Nico Jonas, Kathryn Fawkes, Martin Bailey, Chris Jephson, Michelle Wyatt, L.A. Cochrane, Y. Bajaj, Nick Gibbins
المصدر: Cochlear Implants International. 13:163-167
مصطلحات موضوعية: Male, Surgical results, medicine.medical_specialty, Adolescent, Cogan syndrome, Deafness, Prosthesis Design, Speech and Hearing, Postoperative Complications, otorhinolaryngologic diseases, medicine, Humans, Child, Cochlear implantation, Branchio-oto-renal syndrome, Speech Reception Threshold Test, medicine.diagnostic_test, business.industry, Large series, Auditory Threshold, Syndrome, medicine.disease, Cochlear Implantation, Surgery, Acoustic Impedance Tests, Otorhinolaryngology, Child, Preschool, Pendreds syndrome, Audiometry, Pure-Tone, Female, sense organs, Audiometry, business, Follow-Up Studies, Enlarged vestibular aqueduct
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc91fa18c644afac1c57b24d73b43772Test
https://doi.org/10.1179/1754762811y.0000000020Test -
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المؤلفون: William J. Kimberling, Karen Deffenbacher, Cor W. R. J. Cremers, Henri A. M. Marres, Shrawan Kumar
المصدر: American Journal of Human Genetics, 66, 5, pp. 1715-1720
American Journal of Human Genetics, 66, 1715-1720مصطلحات موضوعية: Male, Hearing loss, BOR2, Penetrance, Erfelijk gehoorverlies, Biology, Genetic determinism, Genetic Heterogeneity, Genetics of hearing, Gene mapping, Genetic linkage, medicine, Genetics, Humans, Genomewide search, Genetics(clinical), Allele, Alleles, Genetics (clinical), Genes, Dominant, Branchio-oto-renal syndrome, Polymorphism, Genetic, Models, Genetic, Genetic heterogeneity, Linkage, Chromosome Mapping, Syndrome, medicine.disease, Pedigree, Chromosomes, Human, Pair 1, Child, Preschool, Chromosome 1q31, Female, Lod Score, medicine.symptom, Branchio-Oto-Renal Syndrome, Microsatellite Repeats, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd2722840780671dc8a8eec08147a206Test
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المؤلفون: Forrest D. Ellis, James W. Preisch, David Bixler
المصدر: Clinical Genetics. 27:506-509
مصطلحات موضوعية: Adult, Male, Deafness, Kidney, Eating, Genetics, medicine, Pharyngeal groove, Humans, Genetics (clinical), Genes, Dominant, Branchio-oto-renal syndrome, business.industry, Autosomal dominant trait, Syndrome, Anatomy, medicine.disease, Stenosis, Phenotype, medicine.anatomical_structure, Head and Neck Neoplasms, Child, Preschool, Taste, Tears, Reflex, Female, Branchioma, Gustatory lacrimation, business, Kidney abnormalities, Duct (anatomy)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddb12218fb742145b0e7ac807b6f6334Test
https://doi.org/10.1111/j.1399-0004.1985.tb00240.xTest -
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المؤلفون: Julie McGaughran, Jürgen Kohlhase, Saskia Engels
المصدر: Journal of Medical Genetics. 37:458-460
مصطلحات موضوعية: Adult, Male, Adolescent, Nonsense mutation, Goldenhar syndrome, Biology, Genetics, medicine, SALL1, Humans, Townes–Brocks syndrome, Letters to the Editor, Genetics (clinical), Zinc finger, Zinc finger transcription factor, Branchio-oto-renal syndrome, Base Sequence, Syndrome, medicine.disease, VACTERL association, Pedigree, Phenotype, Mutation, Female, Branchio-Oto-Renal Syndrome, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39e632c344045e5ca800c8b697a4be49Test
https://doi.org/10.1136/jmg.37.6.458Test -
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المؤلفون: Stephen Hone, Richard J.H. Smith
المصدر: Seminars in Neonatology. 6:531-541
مصطلحات موضوعية: Genetics, medicine.medical_specialty, business.industry, Genetic counseling, Single gene, Syndrome, Deafness, Audiology, Connexins, Connexin 26, Vestibular Diseases, Mutation, Pediatrics, Perinatology and Child Health, otorhinolaryngologic diseases, Hereditary deafness, Humans, Medicine, Waardenburg Syndrome, business, Branchio-Oto-Renal Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca08bc6299e37e3e7aed32a991a4a9c8Test
https://doi.org/10.1053/siny.2001.0094Test -
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المصدر: Clinical genetics. 73(3)
مصطلحات موضوعية: Proband, Adult, Male, Pathology, medicine.medical_specialty, Hearing loss, DNA Mutational Analysis, Molecular Sequence Data, medicine.disease_cause, Genetics, medicine, Humans, Stickler syndrome, Abnormalities, Multiple, Renal agenesis, Collagen Type II, Genetics (clinical), Branchio-oto-renal syndrome, Mutation, Base Sequence, business.industry, Intracellular Signaling Peptides and Proteins, Autosomal dominant trait, Nuclear Proteins, Syndrome, Middle Aged, medicine.disease, Osteochondrodysplasia, Pedigree, Phenotype, Female, medicine.symptom, Protein Tyrosine Phosphatases, business, Tomography, X-Ray Computed, Branchio-Oto-Renal Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bb079475873743ceb59905c69ec610cTest
https://pubmed.ncbi.nlm.nih.gov/18177466Test -
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المؤلفون: Jürgen Kohlhase
المصدر: Human Mutation. 16:460-466
مصطلحات موضوعية: Genetics, Zinc finger, Branchio-oto-renal syndrome, Hearing Loss, Sensorineural, Nonsense mutation, Limb Deformities, Congenital, Anal Canal, Ear, Syndrome, Biology, Kidney, medicine.disease, Stop codon, Exon, Mutation, SALL1, medicine, Animals, Humans, Townes–Brocks syndrome, Abnormalities, Multiple, Haploinsufficiency, Genetics (clinical), Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc38fad6269e59897c0fe99d05444936Test
https://doi.org/10.1002/1098-1004Test(200012)16:6<460::aid-humu2>3.0.co;2-4 -
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المؤلفون: Shelley D. Smith, Lee A. Harker
المصدر: Journal of Communication Disorders. 31:391-410
مصطلحات موضوعية: Linguistics and Language, medicine.medical_specialty, Vestibular aqueduct, Fountain syndrome, Hearing loss, Cognitive Neuroscience, Experimental and Cognitive Psychology, Deafness, Audiology, Speech and Hearing, otorhinolaryngologic diseases, medicine, Humans, Inner ear, Pendred syndrome, Branchio-oto-renal syndrome, Waardenburg syndrome, business.industry, Syndrome, Anatomy, LPN and LVN, medicine.disease, Radiography, medicine.anatomical_structure, Ear, Inner, sense organs, medicine.symptom, business, Treacher Collins syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b21f540e6bc68975dd41df283a5176d4Test
https://doi.org/10.1016/s0021-9924Test(98)00012-4 -
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المؤلفون: Xin Lin, Jessie Z. Gu, Dan E. Wells
المصدر: Genomics. 35:6-10
مصطلحات موضوعية: Candidate gene, DNA, Complementary, Molecular Sequence Data, Sequence Homology, Deafness, Gene mutation, Biology, Kidney, Respiratory electron transport chain, Electron Transport, Gene mapping, Genetics, medicine, Animals, Humans, Abnormalities, Multiple, NADH, NADPH Oxidoreductases, Amino Acid Sequence, Gene, Branchio-oto-renal syndrome, Electron Transport Complex I, Base Sequence, Contig, Syndrome, Cosmids, medicine.disease, Molecular biology, Mitochondria, Branchial Region, Genes, Cosmid, Cattle, Sequence Alignment, Chromosomes, Human, Pair 8
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::116d367257818db4ecfefa94edf542a0Test
https://doi.org/10.1006/geno.1996.0316Test -
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المؤلفون: Cor W. R. J. Cremers, Peter D. Phelps, Susan C. Bellman, Achih Chen, Yutaka Sato, Li Ni, Marcus E. Pembrey, Richard J. H. Smith, Michael J. Wagner, Mary Francis, William J. Kimberling
المصدر: American Journal of Medical Genetics. 58:365-370
مصطلحات موضوعية: Male, Vestibular aqueduct, Urinary system, Biology, Kidney, Temporal bone, otorhinolaryngologic diseases, medicine, Humans, Abnormalities, Multiple, Hearing Loss, Urinary Tract, Renal agenesis, Genetics (clinical), Cochlea, Branchio-oto-renal syndrome, Ear, Syndrome, Anatomy, medicine.disease, Hypoplasia, Pedigree, Branchial Region, Phenotype, medicine.anatomical_structure, Agenesis, Female, sense organs
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f9c9dd0ea990d6687c82a92fd3ab1bbTest
https://doi.org/10.1002/ajmg.1320580413Test