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المؤلفون: Stephanie Keer, Helene Cousin, Karyn Jourdeuil, Karen M. Neilson, Andre L.P. Tavares, Dominique Alfandari, Sally A. Moody
المصدر: Developmental Biology. 489:62-75
مصطلحات موضوعية: Homeodomain Proteins, Neural Plate, Branchial Region, Cartilage, Neural Crest, Gene Expression Regulation, Developmental, RNA-Binding Proteins, Cell Biology, Molecular Biology, Branchio-Oto-Renal Syndrome, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7641effac79851b8c51d92929e76723aTest
https://doi.org/10.1016/j.ydbio.2022.06.002Test -
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المؤلفون: Kaushik Roychoudhury, Rashmi S. Hegde, Upendra Kumar Soni
المصدر: Biochemical Society Transactions
مصطلحات موضوعية: 0301 basic medicine, Cell signaling, Morphogenesis, Protein tyrosine phosphatase, Eyes Absent, Organ development, Biology, Eye, Kidney, protein tyrosine phosphatase, Biochemistry, Molecular Bases of Health & Disease, Congenital Abnormalities, 03 medical and health sciences, 0302 clinical medicine, medicine, Animals, Humans, Genetic Predisposition to Disease, Review Articles, Tissue homeostasis, Branchio-oto-renal syndrome, Post-Translational Modifications, Molecular signaling, Gene Expression Regulation, Developmental, medicine.disease, Cell biology, 030104 developmental biology, organ development, Mutation, Trans-Activators, retinal determination gene network, Protein Tyrosine Phosphatases, branchio-oto-renal syndrome, 030217 neurology & neurosurgery, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2293cb7c5d850103b18145cc9e5ce50Test
https://doi.org/10.1042/bst20201302Test -
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المؤلفون: J. Pao, F. D’Arco, E. Clement, S. Picariello, G. Moonis, C.D. Robson, A.F. Juliano
المصدر: AJNR Am J Neuroradiol
مصطلحات موضوعية: Homeodomain Proteins, Intracellular Signaling Peptides and Proteins, Humans, Nuclear Proteins, Radiology, Nuclear Medicine and imaging, Neurology (clinical), Protein Tyrosine Phosphatases, Pediatrics, Branchio-Oto-Renal Syndrome, Genetic Association Studies, Cochlea, Retrospective Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6010e538753b7227689c1367b86297cTest
https://doi.org/10.3174/ajnr.a7396Test -
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المؤلفون: Haifeng Feng, Hongen Xu, Bei Chen, Shuping Sun, Rongqun Zhai, Beiping Zeng, Wenxue Tang, Wei Lu
المصدر: Frontiers in Genetics, Vol 12 (2021)
Frontiers in Geneticsمصطلحات موضوعية: Proband, medicine.medical_specialty, Hearing loss, QH426-470, symbols.namesake, Genotype-phenotype distinction, Genetics, medicine, whole-exome sequencing, Genetics (clinical), Exome sequencing, Original Research, Genetic testing, Sanger sequencing, Branchio-oto-renal syndrome, medicine.diagnostic_test, business.industry, medicine.disease, humanities, hearing rehabilitation, SIX1 gene, symbols, Molecular Medicine, Medical genetics, EYA1 gene, branchio-oto-renal syndrome, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8dd23618ae41087aa0dfeb7fc55dcddTest
https://doi.org/10.3389/fgene.2021.765433Test -
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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 -
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المؤلفون: Anhai, Chen, Jie, Ling, Yong, Feng
المصدر: Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences. 47(1)
مصطلحات موضوعية: Homeodomain Proteins, Comparative Genomic Hybridization, Genetic Research, Intracellular Signaling Peptides and Proteins, Humans, Nuclear Proteins, Chromosome Deletion, Protein Tyrosine Phosphatases, Branchio-Oto-Renal Syndrome, Pedigree
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::431bae453968ed6df403bb9e5ff2374fTest
https://pubmed.ncbi.nlm.nih.gov/35545373Test -
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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 -
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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 Reportsمصطلحات 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 -
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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 -
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المصدر: Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery. 56(9)
مصطلحات موضوعية: DNA Mutational Analysis, Mutation, Intracellular Signaling Peptides and Proteins, Humans, Nuclear Proteins, Female, Genetic Testing, Protein Tyrosine Phosphatases, Branchio-Oto-Renal Syndrome, Pedigree
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::15de7fa3a88e11365d85b1afffb117feTest
https://pubmed.ncbi.nlm.nih.gov/34666446Test