المؤلفون: Haojie Sun, Xinda Xu, Binjun Chen, Yanmei Wang, Jihan Lyu, Luo Guo, Yasheng Yuan, Dongdong Ren

المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)

مصطلحات موضوعية: Treacher Collins syndrome, TCOF1, Heterozygous variants, Whole-exome sequencing, Minigene, Ossicular chain malformation, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/753d9fde57094c8cb74b9258daf5fb95

المؤلفون: Lamzouri A, EL Rherbi A, Ratbi I, Laarabi FZ, Chahboune R, Elalaoui SC, Hamdaoui H, Bencheikh RS, Sefiani A

المصدر: Balkan Journal of Medical Genetics, Vol 26, Iss 2, Pp 69-72 (2024)

مصطلحات موضوعية: genetic consultation, pharmacovigilance, tcof1 gene, teratogenicity, treacher collins syndrome, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2199-5761

URL الوصول: https://doaj.org/article/eea790235a3d499089596940d6521207

المؤلفون: Dan‐Yan Zhuang, Shu‐Ni Sun, Zhuo‐Jie Hu, Min Xie, Yu‐Xin Zhang, Lu‐Lu Yan, Jie‐Wen Pan, Hai‐bo Li

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 3, Pp n/a-n/a (2024)

مصطلحات موضوعية: craniofacial dysplasia, novel variation, TCOF1, Treacher Collins syndrome, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/ced6fc8613d54af5ae661ac7bcdc9e7d

المؤلفون: S. Sorrenti, E. Pisello, M. Ciuffreda, L. Brugiaferri, J. Silvestri, F. Lacchè, G. Castellana, A. Buonamico, A. Pennacchi, C. Piangatelli, D. Galante

المصدر: Pediatric Anesthesia and Critical Care Journal (PACCJ), Vol 11, Iss 2, Pp 90-94 (2023)

مصطلحات موضوعية: treacher collins syndrome, pediatric difficult airway management, pediatric craniofacial malformations, Pediatrics, RJ1-570, Anesthesiology, RD78.3-87.3

وصف الملف: electronic resource

Relation: http://www.anestesiarianimazione.com/PACCJ%202023/Anesthesia%20in%20Treacher%20Collins%20Syndrome%20for%20bone%20anchored%20hearing%20aid%20BAHA%20surgery.pdf; https://doaj.org/toc/2281-8421

URL الوصول: https://doaj.org/article/d5d7304e1d9e47a0b5247ef5e24a6703

المؤلفون: Joanna Paola Morales Gloria, Laura Leticia Torres Martínez, Omar Alejandro Leal Avalos, Gabriela Rojas Cruz, Ricardo Daniel Flores Altamirano

المصدر: International Journal of Medical Science and Clinical Research Studies, 04(07), 1414-1420, (2024-07-31)

مصطلحات موضوعية: Treacher Collins Syndrome, Mandibulofacial Dysostosis, Craniofacial Deformities, Plastic Surgery

Relation: https://doi.org/10.5281/zenodo.13141976; https://doi.org/10.5281/zenodo.13141977; oai:zenodo.org:13141977

الاتاحة: https://doi.org/10.5281/zenodo.13141977

المؤلفون: Antal, Zsigmond, Till, Szabó, Maász, Bene, Hadzsiev

المصدر: International Journal of Molecular Sciences ; Volume 25 ; Issue 21 ; Pages: 11400

مصطلحات موضوعية: Treacher Collins syndrome, TCOF1, POLR1D, incomplete penetrance, NGS, WES

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms252111400

الاتاحة: https://doi.org/10.3390/ijms252111400

المؤلفون: Varela-Gómez, Fernando Fernández, Vallarta-Compeán, Santiago, Luna-López, Ingrid, Tirado-Calderón, Camila Ortiz

المصدر: International Surgery Journal; Vol. 11 No. 8 (2024): August 2024; 1444-1449 ; 2349-2902 ; 2349-3305

مصطلحات موضوعية: Craniofacial malformations, Genetic mutations, Multidisciplinary approach, Regenerative medicine, Surgical intervention, Treacher Collins syndrome

وصف الملف: application/pdf

Relation: https://www.ijsurgery.com/index.php/isj/article/view/10500/6303; https://www.ijsurgery.com/index.php/isj/article/view/10500

الاتاحة: https://www.ijsurgery.com/index.php/isj/article/view/10500
https://doi.org/10.18203/2349-2902.isj20242150

المؤلفون: García Mata, Jesús Antonio, Nieto Rodríguez, Miguel Ángel

المصدر: Ciencia Latina Revista Científica Multidisciplinar; Vol. 8 Núm. 1 (2024); 4987-4993 ; 2707-2215 ; 2707-2207 ; 10.37811/cl_rcm.v8i1

مصطلحات موضوعية: treacher Collins syndrome, difficult airway, difficult intubation, síndrome de treacher Collins, vía aérea difícil, intubación difícil

وصف الملف: application/pdf; text/html

Relation: https://ciencialatina.org/index.php/cienciala/article/view/9835/14495; https://ciencialatina.org/index.php/cienciala/article/view/9835/14496; https://ciencialatina.org/index.php/cienciala/article/view/9835

الاتاحة: https://ciencialatina.org/index.php/cienciala/article/view/9835
https://doi.org/10.37811/cl_rcm.v8i1.9835

المؤلفون: Ivana Marinac, Robert Trotić, Andro Košec

المصدر: Journal of Personalized Medicine, Vol 14, Iss 1, p 81 (2024)

مصطلحات موضوعية: Treacher Collins syndrome, conductive hearing loss, rehabilitation, Medicine

Relation: https://www.mdpi.com/2075-4426/14/1/81; https://doaj.org/toc/2075-4426; https://doaj.org/article/dede7197f62c40e7882d97edbd8aa90b

الاتاحة: https://doi.org/10.3390/jpm14010081
https://doaj.org/article/dede7197f62c40e7882d97edbd8aa90b

المؤلفون: B. Tuyishimire, H. Irere, C. Muhizi, A. Ndatinya, O. R. Karangwa, F. Rutagarama, C. Nsanzabaganwa, L. Mutesa

المصدر: Rwanda Medical Journal, Vol 79, Iss 4, Pp 9-12 (2022)

مصطلحات موضوعية: dystosis, maxillofacial defect, treacle, mutation, genetic counseling, treacher-collins syndrome, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2410-8626

URL الوصول: https://doaj.org/article/a8b0d83bb7e44a649e62e7c29016d74c

المؤلفون: Shupei Jiang, Tao Han, Weimin Shen

المصدر: Frontiers in Pediatrics, Vol 11 (2023)

مصطلحات موضوعية: CT, mandible, 3D reconstruction, measurement, Pierre Robin sequence, Treacher Collins syndrome, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2023.1172909/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/f84d5f0fe94542d9a61902daa69342af

المؤلفون: Wei Shin Chou, Jia Shing Chen, Yu Ming Shiao, Ju Chin Tsauer, Yi Fen Chang, Ching Hua Hsiao

المصدر: Taiwanese Journal of Obstetrics & Gynecology, Vol 61, Iss 3, Pp 514-516 (2022)

مصطلحات موضوعية: Microdeletion, Treacher Collins syndrome, TCOF1 gene, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1028455922000882; https://doaj.org/toc/1028-4559

URL الوصول: https://doaj.org/article/a2d69b765a774150b5d045deaa7cd5ae

المؤلفون: K.R. Shakila, R.R. Mahendra Raj and T. Saravanan

مصطلحات موضوعية: Treacher-Collins Coloboma Hypoplasia TCS- Treacher Collins Syndrome

Relation: https://doi.org/10.5281/zenodo.7421321; https://doi.org/10.5281/zenodo.7421322; oai:zenodo.org:7421322

الاتاحة: https://doi.org/10.5281/zenodo.7421322

المؤلفون: López Duque, Cristina

المساهمون: Cardoso, Inês Lopes, Repositório Institucional da Universidade Fernando Pessoa

مصطلحات موضوعية: Treacher Collins syndrome, Treatment, Dental, Oral cavity, TCOF1, Domínio/Área Científica::Ciências Médicas::Medicina Clínica

وصف الملف: application/pdf

الاتاحة: http://hdl.handle.net/10284/8500

المؤلفون: Namita Kalra, Rishi Tyagi, Amit Khatri, Puja Sabherwal, Padma Yangdol

المصدر: Indian Journal of Dental Sciences, Vol 12, Iss 3, Pp 145-148 (2020)

مصطلحات موضوعية: dental manifestations, familial treacher–collins syndrome, occupational impact, Dentistry, RK1-715

وصف الملف: electronic resource

Relation: http://www.ijds.in/article.asp?issn=0976-4003;year=2020;volume=12;issue=3;spage=145;epage=148;aulast=Kalra; https://doaj.org/toc/0976-4003; https://doaj.org/toc/2231-2293

URL الوصول: https://doaj.org/article/b889c23fef504ef2aa2a8e383864ffdd

المؤلفون: Xinmiao Fan, Yibei Wang, Yue Fan, Huiqian Du, Nana Luo, Shuyang Zhang, Xiaowei Chen

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)

مصطلحات موضوعية: Treacher Collins syndrome (TCS), Whole-exome sequencing, TCOF1, Bone conduction hearing rehabilitation, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1136-z; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/eda1d035aa5f4f0f95d1f241c2c81e4c

المؤلفون: Aslı Soğukpınar, Merve Erkmen Almaz

المصدر: Cumhuriyet Dental Journal, Vol 22, Iss 1, Pp 136-139 (2019)

مصطلحات موضوعية: treacher collins syndrome, pediatric dentistry, general anaesthesia, Dentistry, RK1-715

وصف الملف: electronic resource

Relation: https://dergipark.org.tr/tr/download/article-file/669484; https://doaj.org/toc/1302-5805; https://doaj.org/toc/2146-2852

URL الوصول: https://doaj.org/article/14c934d5caf34e3e9ed23b708bab2e6a

المؤلفون: Hill-Terán, Guillermina, Petrich, Julieta, Falcone Ferreyra, Maria Lorena, Aybar, Manuel J, Coux, Gabriela

المصدر: J Mol Evol ; ISSN:1432-1432 ; Volume:92 ; Issue:6

مصطلحات موضوعية: Craniofacial development, Gene annotation, Intrinsically disordered proteins, Nucleolus, Treacher-Collins syndrome, ZFIN, Zebrafish

Relation: https://doi.org/10.1007/s00239-024-10200-0; https://pubmed.ncbi.nlm.nih.gov/39269459

الاتاحة: https://doi.org/10.1007/s00239-024-10200-0
https://pubmed.ncbi.nlm.nih.gov/39269459

المؤلفون: García Mata, Jesús Antonio, Nieto Rodríguez, Miguel Ángel

المصدر: Ciencia Latina: Revista Multidisciplinar, ISSN 2707-2207, Vol. 8, Nº. 1, 2024, pags. 4987-4993

مصطلحات موضوعية: treacher Collins syndrome, difficult airway, difficult intubation, síndrome de treacher Collins, vía aérea difícil, intubación difícil

وصف الملف: application/pdf

Relation: https://dialnet.unirioja.es/servlet/oaiart?codigo=9430230; (Revista) ISSN 2707-2215; (Revista) ISSN 2707-2207

الاتاحة: https://dialnet.unirioja.es/servlet/oaiart?codigo=9430230

المؤلفون: Zhaoyu Pan, Hongen Xu, Bei Chen, Yongan Tian, Linlin Zhang, Sen Zhang, Danhua Liu, Huanfei Liu, Ruijun Li, Xinxin Hu, Jingyuan Guan, Wenxue Tang, Wei Lu

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 2, Pp n/a-n/a (2021)

مصطلحات موضوعية: conductive hearing loss, craniofacial dysplasia, TCOF1, Treacher Collins syndrome, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/5429da2544b145f1942f75751e5bbcd2