المؤلفون: Lapena Jr., Jose Florencio F., Jimena, Genilou Liv M.

المصدر: ENT: Ear, Nose & Throat Journal; Jul2013, Vol. 92 Issue 7, p304-309, 5p, 5 Color Photographs, 1 Chart

مصطلحات موضوعية: FISTULA, MULTIPLE human abnormalities, HUMAN embryology, TOMOGRAPHY, SYMPTOMS, BRANCHIO-oto-renal syndrome, DIAGNOSIS

المؤلفون: Song, Mee Hyun, Kwon, Tae-Jun, Kim, Hui Ram, Jeon, Ju Hyun, Baek, Jeong-In, Lee, Won-Sang, Kim, Un-Kyung, Choi, Jae Young

المصدر: PLoS ONE; Jun2013, Vol. 8 Issue 6, p1-11, 11p

مصطلحات موضوعية: GENETIC mutation, TREATMENT of deafness, BRANCHIO-oto-renal syndrome, MIDDLE ear surgery, COCHLEAR implants, MEDICAL rehabilitation, EAST Asians, DISEASES

المؤلفون: Gigante, Maddalena, d'Altilia, Marilena, Montemurno, Eustacchio, Diella, Sterpeta, Bruno, Francesca, Netti, Giuseppe S., Ranieri, Elena, Stallone, Giovanni, Infante, Barbara, Grandaliano, Giuseppe, Gesualdo, Loreto

المصدر: BMC Nephrology; 2013, Vol. 14 Issue 1, p1-5, 5p

مصطلحات موضوعية: BRANCHIO-oto-renal syndrome, FOCAL segmental glomerulosclerosis, GENETIC mutation, KIDNEY abnormalities, DROSOPHILA, CARRIER proteins, PROTEIN-protein interactions, PROTEINURIA

المؤلفون: Hong-Xia Li, Yan Zheng, Peng Zhou, Min Tong

المصدر: Journal of International Medical Research, Vol 48 (2020)
The Journal of International Medical Research

مصطلحات موضوعية: Medicine (General), medicine.medical_specialty, animal structures, Fistula, Fistulectomy, Case Report, Biochemistry, Craniofacial Abnormalities, 03 medical and health sciences, R5-920, 0302 clinical medicine, tympanoplasty, otorhinolaryngologic diseases, medicine, Pharyngeal groove, Humans, Cyst, Child, 030223 otorhinolaryngology, hearing loss, Branchio-oto-renal syndrome, Auricle, business.industry, Biochemistry (medical), Branchial cleft abnormality, Pharyngeal Diseases, Cell Biology, General Medicine, medicine.disease, Renal dysplasia, Surgery, Branchial Region, pediatric, medicine.anatomical_structure, Dysplasia, 030220 oncology & carcinogenesis, sense organs, branchio-oto-renal syndrome, fistulectomy, business, congenital neck malformation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d26609c38a62fa5e582cf83605fe8c4Test
https://doi.org/10.1177/0300060520926363Test

المؤلفون: Galliani, Eva, Burglen, Lydie, Kadlub, Natacha, Just, Walter, Sznajer, Yves, de Villemeur, Thierry Billette, Soupre, Véronique, Picard, Arnaud, Vazquez, Marie-Paule

المصدر: Cleft Palate Craniofacial Journal; May2012, Vol. 49 Issue 3, p357-364, 8p

مصطلحات موضوعية: PALATE surgery, LIP surgery, DIFFERENTIAL diagnosis, EMBRYOLOGY, CASE studies, GENETIC mutation, GENOMICS, EQUIPMENT & supplies, BRANCHIO-oto-renal syndrome, DESCRIPTIVE statistics

مصطلحات جغرافية: FRANCE

المؤلفون: A. Hsu, Nilesh K. Desai, Michael J. Paldino

المصدر: AJNR Am J Neuroradiol

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Hearing loss, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, Basal (phylogenetics), 0302 clinical medicine, Temporal bone, otorhinolaryngologic diseases, Medicine, Humans, Radiology, Nuclear Medicine and imaging, Child, Head & Neck, Cochlea, Retrospective Studies, Branchio-oto-renal syndrome, business.industry, Infant, Temporal Bone, Retrospective cohort study, medicine.disease, Child, Preschool, Cohort, Sensorineural hearing loss, Female, Neurology (clinical), Radiology, sense organs, medicine.symptom, business, Tomography, X-Ray Computed, 030217 neurology & neurosurgery, Branchio-Oto-Renal Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ee22689d3745eb933849b6c0d95f09cTest
https://pubmed.ncbi.nlm.nih.gov/30385470Test

المؤلفون: Blake C. Papsin, William J. Parkes, Sharon L. Cushing, Susan Blaser

المصدر: International journal of pediatric otorhinolaryngology. 114

مصطلحات موضوعية: Adult, Male, Adolescent, Hearing loss, medicine.medical_treatment, Computed tomography, Mastoid, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Cochlear implant, Temporal bone, otorhinolaryngologic diseases, Medicine, Humans, 030223 otorhinolaryngology, Cochlear implantation, Child, Hearing Loss, Retrospective Studies, Tegmen, Branchio-oto-renal syndrome, medicine.diagnostic_test, business.industry, Infant, General Medicine, Anatomy, Absent mastoid, medicine.disease, Cochlear Implantation, Otorhinolaryngology, Case-Control Studies, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, sense organs, medicine.symptom, Anatomic Landmarks, business, Tomography, X-Ray Computed, 030217 neurology & neurosurgery, Branchio-Oto-Renal Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35923f06ae920ce5365eb6b87207c22cTest
https://pubmed.ncbi.nlm.nih.gov/30262375Test

المؤلفون: Shu-ping Sun, Wei Lu, Yi-ling Qiu, Qing-he Xing, Yan-gong Wang

المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-8 (2018)

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, lcsh:Internal medicine, lcsh:QH426-470, Hearing loss, Chinese family, 030105 genetics & heredity, 03 medical and health sciences, Exon, symbols.namesake, Asian People, Genetics, Medicine, Humans, Branchio-Oto-renal syndrome, lcsh:RC31-1245, Hearing Loss, Genetics (clinical), Genetic testing, Sanger sequencing, Branchio-oto-renal syndrome, medicine.diagnostic_test, business.industry, Cytogenetics, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, DNA, Exons, medicine.disease, Palatoschisis, Pedigree, lcsh:Genetics, Otitis Media, 030104 developmental biology, Phenotype, Codon, Nonsense, Child, Preschool, Mutation, symbols, Female, medicine.symptom, Protein Tyrosine Phosphatases, business, Minigene, Research Article, EYA1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67e006f9d9e828314c4b17ce5676dad5Test
https://pubmed.ncbi.nlm.nih.gov/30086703Test

المؤلفون: V Ismaili Jaha, Haki Jashari, Besart Merovci, A Batalli Këpuska, Lidvana Spahiu

المصدر: Balkan Journal of Medical Genetics, Vol 19, Iss 2, Pp 91-94 (2016)
Balkan Journal of Medical Genetics : BJMG

مصطلحات موضوعية: 0301 basic medicine, Nephrology, medicine.medical_specialty, Pediatrics, medicine.medical_treatment, Renal function, Case Report, 030105 genetics & heredity, QH426-470, urologic and male genital diseases, renal insufficiency, 03 medical and health sciences, chemistry.chemical_compound, Internal medicine, medicine, Genetics, branchial fistulae, Genetics (clinical), Branchial fistula, Branchio-oto-renal syndrome, Creatinine, business.industry, Branchial Cyst, hearing impairment, branchi-oto-renal (bor) syndrome, medicine.disease, Transplantation, 030104 developmental biology, chemistry, Hemodialysis, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::377b03beaef7bb01112c47d0d0783307Test
https://doaj.org/article/c73c456821b04e29850a11622026eaf9Test

المؤلفون: Phayvanh P. Sjogren, Albert H. Park, Richard K. Gurgel

المصدر: International Journal of Pediatric Otorhinolaryngology. 90:200-203

مصطلحات موضوعية: Cri-du-Chat Syndrome, Male, Reoperation, Down syndrome, medicine.medical_specialty, Tympanic Membrane, medicine.medical_treatment, Mastoidectomy, Constriction, Pathologic, Mastoid, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Ear canal, Child, 030223 otorhinolaryngology, Spinal Dysraphism, Retrospective Studies, Pierre Robin Syndrome, Cerebrospinal fluid leak, Spina bifida, business.industry, General Medicine, medicine.disease, Surgery, Stenosis, Treatment Outcome, medicine.anatomical_structure, Otorhinolaryngology, Child, Preschool, Pediatrics, Perinatology and Child Health, Pierre Robin syndrome, Female, Angelman Syndrome, Down Syndrome, Trisomy, business, Branchio-Oto-Renal Syndrome, Ear Canal, Mandibulofacial Dysostosis, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fb6fdc29b72b8343e4c688ce6f78f1fTest
https://doi.org/10.1016/j.ijporl.2016.09.011Test