المؤلفون: Miranda, Paige, Enkhmandakh, Badam, Bayarsaihan, Dashzeveg

المصدر: Cleft Palate Craniofacial Journal; Jul2018, Vol. 55 Issue 6, p865-870, 6p

مصطلحات موضوعية: MENTAL illness genetics, SKULL abnormalities, WILLIAMS syndrome, FACIAL bone abnormalities, CRANIOFACIAL abnormalities, BRANCHIO-oto-renal syndrome, CHROMOSOMES, ENZYMES, GENE expression, GENETIC mutation, STEM cells, TRANSCRIPTION factors, TRETINOIN, EMBRYOS, GENETICS

المؤلفون: Lindau, Tâmara Andrade, Cardoso, Ana Cláudia Vieira, Rossi, Natalia Freitas, Giacheti, Célia Maria

المصدر: International Archives of Otorhinolaryngology. January 2014 18(1)

مصطلحات موضوعية: branchio-oto-renal syndrome, BOR syndrome, hearing, review

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1809-48642014000100068Test

المؤلفون: Safaya, A. safaya.aditya@gmail.com, Shah, S.¹, Doshi, B.¹

المصدر: Indian Journal of Otolaryngology & Head & Neck Surgery. Jan2014 Supplement, Vol. 66, p356-358. 3p.

مصطلحات موضوعية: *BRANCHIO-oto-renal syndrome, *COMPUTED tomography, *BRANCHIAL arch, *OTOLOGY, *KIDNEY abnormalities

المؤلفون: Rui, Han, Xiaoran, Liu, Erdengqieqieke, Ye, Shuang, Wu, Jing, Zhao, Ling, Duan, Yan, Xia, Jianbing, Ding

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 39(4)

مصطلحات موضوعية: China, Mutation, Intracellular Signaling Peptides and Proteins, Humans, Nuclear Proteins, Protein Tyrosine Phosphatases, Branchio-Oto-Renal Syndrome, Pedigree

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::1c0c6a32f45c3e6833fa64bf18c19a7cTest
https://pubmed.ncbi.nlm.nih.gov/35446969Test

المؤلفون: Tâmara Andrade Lindau, Ana Cláudia Vieira Cardoso, Natalia Freitas Rossi, Célia Maria Giacheti

المصدر: International Archives of Otorhinolaryngology, Vol 18, Iss 01, Pp 068-076 (2014)

مصطلحات موضوعية: branchio-oto-renal syndrome, bor syndrome, hearing, review, Medicine, Otorhinolaryngology, RF1-547

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1809-9777Test; https://doaj.org/toc/1809-4864Test

الوصول الحر: https://doaj.org/article/106723f257004dd89ea51b4b38fe3333Test

المؤلفون: Keer, Stephanie, Cousin, Helene, Jourdeuil, Karyn, Neilson, Karen M, Tavares, Andre L, Alfandari, Dominique, Moody, Sally A

المصدر: GW Authored Works

مصطلحات موضوعية: Branchial arch, Branchio-oto-renal syndrome, Meckel's, Neural crest, Otic, Placodes, Six1

العلاقة: https://hsrc.himmelfarb.gwu.edu/gwhpubs/1128Test; https://doi.org/10.1016/j.ydbio.2022.06.002Test

الإتاحة: https://doi.org/10.1016/j.ydbio.2022.06.002Test
https://hsrc.himmelfarb.gwu.edu/gwhpubs/1128Test

المؤلفون: Tian, Luchen, West, Niels, Cayé-Thomasen, Per

المصدر: Tian , L , West , N & Cayé-Thomasen , P 2022 , ' Cochlear implantation in Branchiootorenal syndrome–case report and review of the literature ' , Cochlear Implants International , vol. 23 , no. 1 , pp. 52-57 . https://doi.org/10.1080/14670100.2021.1973209Test

مصطلحات موضوعية: Auditory Implant, Branchio-Oto-Renal Syndrome, Cochlear implants, Correction of Hearing Impairment, Hearing Aids, Hearing Loss, Surgery, Treatment outcome

الإتاحة: https://doi.org/10.1080/14670100.2021.1973209Test
https://curis.ku.dk/portal/da/publications/cochlear-implantation-in-branchiootorenal-syndromecase-report-and-review-of-the-literatureTest(1e02c038-6b08-49af-9c40-52efb5cfbfdf).html

المؤلفون: Masuda, Masatsugu, Kanno, Ayako, Nara, Kiyomitsu, Mutai, Hideki, Morisada, Naoya, Iijima, Kazumoto, Morimoto, Noriko, Nakano, Atsuko, Sugiuchi, Tomoko, Okamoto, Yasuhide, Masuda, Sawako, Katsunuma, Sayaka, Ogawa, Kaoru, Matsunaga, Tatsuo

المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
Scientific Reports

مصطلحات موضوعية: Homeodomain Proteins, Male, Multidisciplinary, Disease genetics, Science, Medical genetics, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, Paediatric research, Article, Pedigree, Phenotype, Genetics research, Inner ear, Humans, Medicine, Female, Protein Tyrosine Phosphatases, Branchio-Oto-Renal Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46ba01fde2a2fe79ceda396644733405Test
https://doi.org/10.1038/s41598-022-04885-wTest

المؤلفون: Charlotte Sherlaw-Sturrock, Thomas Austin, Julia Baptista, Kimberly Gilmour, Swati Naik

المصدر: European journal of medical genetics. 65(7)

مصطلحات موضوعية: Diagnosis, Differential, Homozygote, Exome Sequencing, Genetics, Infant, Newborn, Humans, Infant, Female, General Medicine, Genetics (clinical), Branchio-Oto-Renal Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a264691bcf6c9411a378d5cf60b6131eTest
https://pubmed.ncbi.nlm.nih.gov/35595062Test

المؤلفون: Dutta, Mainak, Chatterjee, Indranil

المصدر: ENT: Ear, Nose & Throat Journal; Jan2019, Vol. 98 Issue 1, p20-22, 3p

مصطلحات موضوعية: HEARING disorder diagnosis, HYPOSPADIAS, BRANCHIO-oto-renal syndrome, ALLELES, AUDIOMETRY, COMPUTED tomography, GENE expression, PHENOTYPES, DIAGNOSIS