المؤلفون: Kamat, Deepak M, Caldwell, Alice Little, Cearley, David, Hanson, Amy, Jones, Carolyn, Newgent, Kelly, Kelly, Robert B, Madikians, Andranik

المصدر: Pediatrics in Review. 33(12)

مصطلحات موضوعية: Paediatrics, Biomedical and Clinical Sciences, Adolescent, Branchio-Oto-Renal Syndrome, Diagnosis, Differential, Ear Auricle, Female, Headache, Hip Dislocation, Congenital, Humans, Hydrocephalus, Hypertension, Infant, Intracranial Hypertension, Male, Musculoskeletal Pain, Papilloma, Choroid Plexus, Pediatrics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7sk9377gTest

المؤلفون: Abdoulaye Yalcouyé, Oumou Traoré, Salimata Diarra, Isabelle Schrauwen, Kevin Esoh, Magda Kamila Kadlubowska, Thashi Bharadwaj, Samuel Mawuli Adadey, Mohamed Kéita, Cheick O. Guinto, Suzanne M. Leal, Guida Landouré, Ambroise Wonkam

المصدر: Molecular Genetics & Genomic Medicine. 10

مصطلحات موضوعية: Adult, Adolescent, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, Middle Aged, Pedigree, Young Adult, Genetics, Humans, Protein Tyrosine Phosphatases, Child, Hearing Loss, Molecular Biology, Branchio-Oto-Renal Syndrome, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40c17a9cac0654c8707a962300ce3e01Test
https://doi.org/10.1002/mgg3.1995Test

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

المصدر: T201303519.pdf

مصطلحات موضوعية: Adolescent, Adult, Alternative Splicing, Base Sequence, Branchio-Oto-Renal Syndrome/diagnostic imaging, Branchio-Oto-Renal Syndrome/genetics, Branchio-Oto-Renal Syndrome/physiopathology, Branchio-Oto-Renal Syndrome/therapy, Child, DNA Mutational Analysis, Disease Management, Ear, Middle/surgery, Female, Genetic Association Studies, Genetic Predisposition to Disease, HeLa Cells, Hearing Loss/diagnostic imaging, Hearing Loss/genetics, Hearing Loss/physiopathology, Hearing Loss/therapy, Homeodomain Proteins/genetics, Humans, Infant, Intracellular Signaling Peptides and Proteins/genetics, Intracellular Signaling Peptides and Proteins/metabolism, Molecular Sequence Data, Nuclear Proteins/genetics, Nuclear Proteins/metabolism, Point Mutation

العلاقة: PLOS ONE; J02540; OAK-2013-02020; https://ir.ymlib.yonsei.ac.kr/handle/22282913/88137Test; T201303519; PLOS ONE, Vol.8(6) : e67236, 2013

الإتاحة: https://doi.org/10.1371/journal.pone.0067236Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/88137Test

المؤلفون: Eriko Nishi, Takuma Iwaki, Toru Igarashi, Naoya Morisada, Shuichi Ito, Shunsuke Goto, Nobuya Takahashi, Shoichiro Kanda, Tomoaki Ishikawa, Yasufumi Ohtsuka, Koji Nagatani, Takayuki Okamoto, Ming Juan Ye, Nobuhiko Okamoto, Yuji Inaba, Shihomi Ina, Naoko Ito, Kazumoto Iijima, Ken Ito, Mayumi Yahata, Kenji Ishikura, Kandai Nozu, Kazuyuki Ueno, Ai Unzaki, Tatsuo Matsunaga, Kohei Omune

المصدر: Journal of Human Genetics. 63:647-656

مصطلحات موضوعية: Adult, Genetic Markers, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Adolescent, Genotype, Hearing loss, 030232 urology & nephrology, Genetic analysis, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Cyst, Multiplex ligation-dependent probe amplification, Child, Genetic Association Studies, Genetics (clinical), Aged, Branchio-oto-renal syndrome, Comparative Genomic Hybridization, business.industry, Infant, Newborn, Intracellular Signaling Peptides and Proteins, Genetic Variation, Infant, Nuclear Proteins, Middle Aged, medicine.disease, Phenotype, 030104 developmental biology, Genetic marker, Child, Preschool, Female, Protein Tyrosine Phosphatases, medicine.symptom, business, Branchio-Oto-Renal Syndrome, Comparative genomic hybridization

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5db57333aa05cf8406328a7c3ee7778Test
https://doi.org/10.1038/s10038-018-0429-8Test

المؤلفون: Ashima Gulati, Alda Tufro, Neera K. Dahl

المصدر: Pediatric Nephrology (Berlin, Germany)

مصطلحات موضوعية: Male, Adolescent, 030232 urology & nephrology, Computational biology, 030204 cardiovascular system & hematology, medicine.disease_cause, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, Humans, Medicine, Genomic medicine, Renal Insufficiency, Chronic, Child, Gene panels, Uncertain significance, Glomerular diseases, Exome sequencing, Educational Review, Mutation, Genetic glomerulopathies, business.industry, Age Factors, Whole exome sequencing, High-Throughput Nucleotide Sequencing, Infant, Middle Aged, Pedigree, Nephrology, Pediatrics, Perinatology and Child Health, Kidney Failure, Chronic, Female, Human genome, Genomic information, business, Genetic diagnosis, Branchio-Oto-Renal Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bb8f57240b2989e1ab39fb08a924f97Test
https://doi.org/10.1007/s00467-019-04266-yTest

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: Bertrand Jaques, Leonor Alamo Maestre, T. Laswed, Reto Meuli, François Gudinchet, Elodie Senggen, Jean-Yves Meuwly

مصطلحات موضوعية: Panoramic radiograph, Adolescent, Cephalometry, Branchial arch, Craniofacial Abnormalities, Radiography, Panoramic, Medicine, Humans, Radiology, Nuclear Medicine and imaging, Craniofacial, Child, Neuroradiology, Pierre Robin Syndrome, business.industry, Infant, Newborn, Infant, Anatomy, Craniometry, medicine.disease, Magnetic Resonance Imaging, Nager acrofacial dysostosis, Hemifacial microsomia, medicine.anatomical_structure, Branchial Region, Facial Asymmetry, Child, Preschool, Pediatrics, Perinatology and Child Health, Middle ear, business, Branchio-Oto-Renal Syndrome, Mandibulofacial Dysostosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1f8f23921acaa438fcdb713e0fbbbf1Test
http://doc.rero.ch/record/317275/files/247_2010_Article_1831.pdfTest

المؤلفون: Simone Walter, Anne Easson

مصطلحات موضوعية: Lipreading, Nephritis, Hereditary, Mainstreaming, Deafness, Persons With Hearing Impairments, Sign Language, Tinnitus, 0302 clinical medicine, Reading (process), Health care, Medicine, Young adult, 030223 otorhinolaryngology, Postural Balance, media_common, education.field_of_study, Communication, Patient Preference, General Medicine, Cochlear Implantation, Education of Hearing Disabled, Educational Status, medicine.symptom, Usher Syndromes, Branchio-Oto-Renal Syndrome, Goiter, Nodular, Adult, medicine.medical_specialty, Transition to Adult Care, Adolescent, Hearing loss, media_common.quotation_subject, Hearing Loss, Sensorineural, Population, Reviews, Subspecialty, 03 medical and health sciences, Young Adult, Mainstreaming, Education, 030225 pediatrics, Humans, Correction of Hearing Impairment, education, Hearing Loss, Physician-Patient Relations, business.industry, Cochlear Implants, Family medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c1a38cf0638fc133b00c2834d7a9a7eTest
https://europepmc.org/articles/PMC6297701Test/

المؤلفون: Ann N. Deklerck, Sandra Janssens, Frederic Acke, Els De Leenheer

المصدر: International Journal of Pediatric Otorhinolaryngology. 79:216-222

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Adolescent, Hearing loss, Gene mutation, Audiology, Congenital hearing loss, Connexins, Vestibular Aqueduct, Belgium, otorhinolaryngologic diseases, medicine, Humans, Medical history, Hearing Loss, Retrospective Studies, Genetic testing, Branchio-oto-renal syndrome, medicine.diagnostic_test, business.industry, General Medicine, medicine.disease, Connexin 26, Radiography, Otorhinolaryngology, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Etiology, Female, medicine.symptom, business, Enlarged vestibular aqueduct

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f44b8e150c181a5aa35c9c9ad4ed26dTest
https://doi.org/10.1016/j.ijporl.2014.12.012Test