المؤلفون: Hui Zhang, Jian Gao, Hanjun Wang, Mengli Liu, Shuangshuang Lu, Hongen Xu, Wenxue Tang, Guoxi Zheng

المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: EYA1 gene, Branchio-oto-renal syndrome, Whole-exome sequencing, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/3af2a963f61941838169b602feab7d12Test

المؤلفون: Zhilang Lin, Jie Li, Yuxin Pei, Ying Mo, Xiaoyun Jiang, Lizhi Chen

المصدر: BMC Nephrology, Vol 24, Iss 1, Pp 1-7 (2023)

مصطلحات موضوعية: Branchio-oto-renal syndrome, Proteinuria, Renal insufficiency, Kidney failure, Genetic testing, Immune complex-mediated glomerulonephritis, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2369Test

الوصول الحر: https://doaj.org/article/cf80374fca9e494b82d3309579ea4303Test

المؤلفون: Luciano A. Favorito, Marcio Luiz P. Lobo, Ana Vitória Fernandes, Carla M. Gallo, Francisco J. B. Sampaio

المصدر: International Brazilian Journal of Urology, Vol 48, Iss 6, Pp 930-936 (2022)

مصطلحات موضوعية: Kidney, Branchio-Oto-Renal Syndrome, Embryology, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1677-55382022000600930&tlng=enTest; https://doaj.org/toc/1677-6119Test

الوصول الحر: https://doaj.org/article/869d1bf0d27f40038ca4da919a6aa365Test

المؤلفون: Dandan Liu, Yafeng Wang

المصدر: BMC Pediatrics, Vol 22, Iss 1, Pp 1-5 (2022)

مصطلحات موضوعية: Branchio-Oto-Renal syndrome, Infants, Congenital heart defects, Proteinuria, Genetic sequencing analysis, Case report, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2431Test

الوصول الحر: https://doaj.org/article/eb3a816d19924b0e9f00d0ffe783450aTest

المؤلفون: Elena Cacciatori, Sebastiano Aleo, Giulietta Scuvera, Chiara Rigon, Paola Giovanna Marchisio, Matteo Cassina, Donatella Milani

المصدر: Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-6 (2022)

مصطلحات موضوعية: Branchio-oto-renal syndrome, Deafness, EYA1, Copy number variation – case report, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1824-7288Test

الوصول الحر: https://doaj.org/article/8030015ccf53465ba0ce88cd1561ec68Test

المؤلفون: Kim, Da Hyeon, Yang, Misun, Jo, Heui Seung, Park, JongHo, Jang, JaHyun, Shin, Sunghwan, Son, SeHyung

المصدر: Children; Jan2023, Vol. 10 Issue 1, p76, 10p

مصطلحات موضوعية: NECK surgery, BICORNUATE uterus, PREMATURE infants, SEQUENCE analysis, NEONATAL intensive care, GENETIC mutation, DEGLUTITION, RESPIRATORY aspiration, NEONATAL diseases, HUMAN genome, GENETIC polymorphisms, VERY low birth weight, NEONATAL intensive care units, POSTOPERATIVE care, INFANT nutrition, BRANCHIO-oto-renal syndrome, GENES, BARIUM, DYES & dyeing, CYANOSIS, CESAREAN section, EARLY diagnosis, DISEASE complications

مصطلحات جغرافية: SOUTH Korea

المؤلفون: Cacciatori, Elena, Aleo, Sebastiano, Scuvera, Giulietta, Rigon, Chiara, Marchisio, Paola Giovanna, Cassina, Matteo, Milani, Donatella

المصدر: Italian Journal of Pediatrics; 10/1/2022, Vol. 48 Issue 1, p1-6, 6p

مصطلحات موضوعية: MOLECULAR diagnosis, SEQUENCE analysis, DEAFNESS, GENETIC polymorphisms, BRANCHIO-oto-renal syndrome, CHROMOSOME abnormalities

المؤلفون: Juan M. Fons, Natalie J. Milmoe, Michael R. G. Dack, Leena Joshi, Hannah Thompson, Abigail S. Tucker

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: ear development, congenital birth defect, branchio-oto-renal syndrome, cavitation, basal cell hyperplasia, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.933416/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/8436aff2f2804f2885274fbbdd245d02Test

المؤلفون: Shen, Li-Fang¹ 11418276@zju.edu.cn, Zhou, Shui-Hong¹ 1190051@zju.edu.cn, Chen, Qiong-qiong¹, Yu, Qi¹

المصدر: Pediatric Surgery International. Dec2018, Vol. 34 Issue 12, p1251-1256. 6p. 1 Color Photograph.

مصطلحات موضوعية: *BRANCHIAL cleft fistula, *BRANCHIO-oto-renal syndrome, *HUMAN abnormalities, *CHILDREN, *ENDOSCOPIC surgery

المؤلفون: Parkes, William J.^1,2 william.parkes@nemours.org, Cushing, Sharon L.³, Blaser, Susan I.^3,4, Papsin, Blake C.³

المصدر: International Journal of Pediatric Otorhinolaryngology. Nov2018, Vol. 114, p92-96. 5p.

مصطلحات موضوعية: *BRANCHIO-oto-renal syndrome, *MASTOID process surgery, *COCHLEAR implants, *COMPUTED tomography