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1
المؤلفون: Sandra Daack-Hirsch, Angela E. Lin, David D. Weaver, Kenneth N. Rosenbaum, Cynthia J. Curry, Elizabeth Roeder, Elena V. Semina, Jeffrey C. Murray
المصدر: American Journal of Medical Genetics. 91:387-390
مصطلحات موضوعية: Branchio-oto-renal syndrome, medicine.medical_specialty, biology, Pinna, Branchial arch, Locus (genetics), Anatomy, Gene mutation, biology.organism_classification, medicine.disease, Dermatology, Aplasia cutis congenita, otorhinolaryngologic diseases, medicine, sense organs, medicine.symptom, Craniofacial, Branchio-oculo-facial syndrome, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a3c1986d89f877ec73016137e432525eTest
https://doi.org/10.1002Test/(sici)1096-8628(20000424)91:5<387::aid-ajmg13>3.0.co;2-1 -
2
المؤلفون: Owen M. Rennert, Jing-Ping Lin, Constantine A. Stratakis
المصدر: American Journal of Medical Genetics. 79:209-214
مصطلحات موضوعية: Genetics, Branchio-oto-renal syndrome, Hearing loss, Chromosome, Locus (genetics), Biology, medicine.disease, Penetrance, Genetic linkage, Genetic marker, Chromosome regions, otorhinolaryngologic diseases, medicine, sense organs, medicine.symptom, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2faccd3c9c354d01060ff43983e745b5Test
https://doi.org/10.1002Test/(sici)1096-8628(19980923)79:3<209::aid-ajmg12>3.0.co;2-l -
3
المصدر: American Journal of Medical Genetics. 76:395-401
مصطلحات موضوعية: Genetics, Branchio-oto-renal syndrome, Pathology, medicine.medical_specialty, Hearing loss, Biology, medicine.disease, Renal dysplasia, Branchial anomaly, medicine, Van der Woude syndrome, sense organs, Allele, medicine.symptom, Treacher Collins syndrome, Genetics (clinical), Potter Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::860fd62c6ddf026117ebcb84085d2969Test
https://doi.org/10.1002Test/(sici)1096-8628(19980413)76:5<395::aid-ajmg6>3.0.co;2-m -
4
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 -
5
المؤلفون: Marcus E. Pembrey, Stephen P. Daiger, Shrawan Kumar, Li Ni, Kristin A. Johnson, Dan E. Wells, Richard J.H. Smith, William J. Kimberling, Michael J. Wagner, Kenneth M. Grundfast
المصدر: American Journal of Medical Genetics. 51:176-184
مصطلحات موضوعية: Genetics, Branchio-oto-renal syndrome, Genotype, Genetic Linkage, Haplotype, Chromosome Mapping, Locus (genetics), Biology, Kidney, medicine.disease, Autosomal dominant form, Pedigree, Branchial Region, Phenotype, Haplotypes, Gene mapping, Genetic linkage, medicine, Humans, BOR syndrome gene, Hearing Loss, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26f06ca4c47f1d30e1682c493214df08Test
https://doi.org/10.1002/ajmg.1320510222Test -
6
المؤلفون: Moy-Fong Chen, Kathy Hodgkinson, George D. Haber, David Chitayat, Shigeto Nakishima, Isamu Sando
المصدر: American Journal of Medical Genetics. 43:970-975
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Oligohydramnios, Kidney, urologic and male genital diseases, Pulmonary hypoplasia, Pregnancy, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Genes, Dominant, Branchio-oto-renal syndrome, business.industry, Infant, Newborn, Ear, Syndrome, Anatomy, medicine.disease, Renal hypoplasia, Hypoplasia, Pedigree, Branchial Region, medicine.anatomical_structure, Agenesis, Female, sense organs, Radiology, business, Potter sequence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ac0cef3f7791ddad1b2e6748a6b4d91Test
https://doi.org/10.1002/ajmg.1320430613Test -
7
المؤلفون: A E, Lin, E V, Semina, S, Daack-Hirsch, E R, Roeder, C J, Curry, K, Rosenbaum, D D, Weaver, J C, Murray
المصدر: American journal of medical genetics. 91(5)
مصطلحات موضوعية: Male, Child, Preschool, DNA Mutational Analysis, Intracellular Signaling Peptides and Proteins, Trans-Activators, Humans, Nuclear Proteins, Female, Protein Tyrosine Phosphatases, Child, Branchio-Oto-Renal Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::be39df894c2d08735aa69cb7e05222aeTest
https://pubmed.ncbi.nlm.nih.gov/10767004Test -
8
المؤلفون: G E, Graham, J E, Allanson
المصدر: American journal of medical genetics. 86(1)
مصطلحات موضوعية: Adult, Family Health, Male, Facial Nerve, Phenotype, Humans, Infant, Female, Cholesteatoma, Branchio-Oto-Renal Syndrome, Nuclear Family
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::da95d4e2aaa077e246f677ec136cb69aTest
https://pubmed.ncbi.nlm.nih.gov/10440824Test -
9
المؤلفون: S, Kumar, W J, Kimberling, H A, Marres, C W, Cremers
المصدر: American journal of medical genetics. 83(3)
مصطلحات موضوعية: Genetic Heterogeneity, Mutation, Intracellular Signaling Peptides and Proteins, Trans-Activators, Humans, Nuclear Proteins, Protein Tyrosine Phosphatases, Branchio-Oto-Renal Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::ce878d70103747e33d7355ae476cfdd1Test
https://pubmed.ncbi.nlm.nih.gov/10096598Test -
10
المؤلفون: C A, Stratakis, J P, Lin, O M, Rennert
المصدر: American journal of medical genetics. 79(3)
مصطلحات موضوعية: Genetic Markers, Male, Genetic Linkage, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, Ear, Pedigree, Branchial Region, Trans-Activators, Humans, Female, Protein Tyrosine Phosphatases, Hearing Disorders, Branchio-Oto-Renal Syndrome, Chromosomes, Human, Pair 8, Genes, Dominant
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::e49491fb963551ab18b82a63adcf0701Test
https://pubmed.ncbi.nlm.nih.gov/9788564Test