المؤلفون: Arai, Hirokazu, Noguchi, Atsuko, Shina, Kazuhiro, Otaka, Shin, Takahashi, Ikuko, Kosaki, Kenjiro, Takahashi, Tsutomu

المصدر: Pediatrics International; Jan-Dec2023, Vol. 65 Issue 1, p1-3, 3p

مصطلحات موضوعية: GENETIC mutation, VESTIBULAR apparatus diseases, GENETIC variation, MAGNETIC resonance imaging, BRANCHIO-oto-renal syndrome, HUMAN growth hormone, KIDNEY diseases, GENES, CASE studies, HEARING disorders, COMPUTED tomography, CHILDREN

المؤلفون: Kause, Franziska¹, Reutter, Heiko^1,2, Marsch, Florian¹, Thiele, Holger³, Altmüller, Janine^3,4, Ludwig, Michael⁵, Zhang, Rong^1,6 rongzhang@uni-bonn.de

المصدر: Molecular Medicine Reports. Feb2018, Vol. 17 Issue 2, p3200-3205. 6p.

مصطلحات موضوعية: *EXOMES, *BRANCHIO-oto-renal syndrome, *DROSOPHILA, *ZINC-finger proteins, ESOPHAGEAL atresia

المؤلفون: Sundaram, Arun N. E.¹ (AUTHOR) arun.sundaram@sunnybrook.ca, Abhayambika, Archana¹ (AUTHOR), Kumar, Sunil¹ (AUTHOR)

المصدر: Neuro-Ophthalmology. Dec2017, Vol. 41 Issue 6, p321-325. 5p.

مصطلحات موضوعية: *BRANCHIO-oto-renal syndrome, *PARATHYROID gland surgery, *PARATHYROIDECTOMY, *OPTIC nerve abnormalities

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

المصدر: Children, Vol 10, Iss 1, p 76 (2022)

مصطلحات موضوعية: branchio-oto-renal syndrome, preterm infant, whole-genome sequencing, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2227-9067/10/1/76Test; https://doaj.org/toc/2227-9067Test

الوصول الحر: https://doaj.org/article/a2a719111d3442169046609cc1c67e36Test

المؤلفون: Haifeng Feng, Hongen Xu, Bei Chen, Shuping Sun, Rongqun Zhai, Beiping Zeng, Wenxue Tang, Wei Lu

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: EYA1 gene, SIX1 gene, branchio-oto-renal syndrome, whole-exome sequencing, hearing rehabilitation, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.765433/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/0a8687c19f29430a9fc3ebaeb53b0adaTest

المؤلفون: Klingbeil, Kyle D.¹, Greenland, Christopher M.¹, Arslan, Selcuk², Llamos Paneque, Arianne³, Gurkan, Hakan⁴, Demir Ulusal, Selma⁴, Maroofian, Reza⁵, Carrera-Gonzalez, Andrea³, Montufar-Armendariz, Stefany³, Paredes, Rosario³, Elcioglu, Nursel⁶, Menendez, Ibis¹, Behnam, Mahdiyeh⁷, IIFoster, Joseph¹, Guo, Shengru¹, Escarfuller, Sebastian¹, Cengiz, Filiz Basak¹, Duman, Duygu⁸, Bademci, Guney¹, Tekin, Mustafa^1,9 mtekin@med.miami.edu

المصدر: International Journal of Pediatric Otorhinolaryngology. Jul2017, Vol. 98, p59-63. 5p.

مصطلحات موضوعية: *BRANCHIO-oto-renal syndrome, *HEARING disorders, *KIDNEY abnormalities, *GENETIC mutation, *GENETIC testing

المؤلفون: Spahiu, L.¹, Merovci, B.¹ m_besart@hotmail.com, Jaha, V. Ismaili¹, Këpuska, A. Batalli¹, Jashari, H.¹

المصدر: Balkan Journal of Medical Genetics. Dec2016, Vol. 19 Issue 2, p91-94. 4p.

مصطلحات موضوعية: *BRANCHIO-oto-renal syndrome, *POLYCYSTIC kidney disease, *KIDNEY failure, *BRANCHIAL cleft fistula, *HEMODIALYSIS

المؤلفون: Sherlaw-Sturrock, C., Austin, T., Baptista, J., Gilmour, K., Naik, S.

مصطلحات موضوعية: Branchio-Oto-Renal Syndrome/genetics, Diagnosis, Differential, Female, Homozygote, Humans, Infant, Newborn, Whole Exome Sequencing, Haematopoietic stem cell transplantation, Otofaciocervical syndrome, Pax1, Severe combined immunodeficiency

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S1769-7212Test(22)00104-5; Eur J Med Genet. 2022 Jul;65(7):104523. doi:10.1016/j.ejmg.2022.104523. Epub 2022 May 17.; https://rde.dspace-express.com/handle/11287/622520Test; European journal of medical genetics

الإتاحة: https://doi.org/10.1016/j.ejmg.2022.104523Test
https://rde.dspace-express.com/handle/11287/622520Test

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

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

مصطلحات موضوعية: Chinese family, Branchio-Oto-renal syndrome, EYA1, Mutation, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12881-018-0653-2Test; https://doaj.org/toc/1471-2350Test

الوصول الحر: https://doaj.org/article/5b7699aa32e04e10a499bef32f203f92Test

العنوان البديل: A Case of Child with Branchio-Oculo-Facial Syndrome.

المؤلفون: فضائلی, سیده مریم¹ ma.fazaeli@stu-mail.um.ac.ir, مهدیه, رؤیا², شفقتی, یوسف³

المصدر: Journal of Mazandaran University of Medical Sciences (JMUMS). 2016, Vol. 26 Issue 137, p217-223. 7p.

مصطلحات موضوعية: *BRANCHIO-oto-renal syndrome, *GENETIC disorders, *BRANCHIAL arch, *MENTAL illness treatment, *PHYSIOLOGY

مصطلحات جغرافية: IRAN