المؤلفون: Hill-Terán, Guillermina, Petrich, Julieta^{Aff2, Aff3}, Falcone Ferreyra, Maria Lorena^{Aff2, Aff3}, Aybar, Manuel J.^{Aff1, Aff4}, Coux, Gabriela^{Aff5, Aff6, IDs00239024102000_cor5}

المصدر: Journal of Molecular Evolution. :1-17

المؤلفون: Thattaliyath, Bijoy D.^Aff10, Firulli, Anthony B.^Aff11

المساهمون: Crusio, Wim E., Series Editor^Aff1, Dong, Haidong, Series Editor^Aff2, Radeke, Heinfried H., Series Editor^Aff3, Rezaei, Nima, Series Editor^Aff4, Steinlein, Ortrud, Series Editor^Aff5, Xiao, Junjie, Series Editor^Aff6, Rickert-Sperling, Silke, editor^Aff7, Kelly, Robert G., editor^Aff8, Haas, Nikolaus, editor^Aff9

المصدر: Congenital Heart Diseases: The Broken Heart : Clinical Features, Human Genetics and Molecular Pathways. 1441:125-143

المؤلفون: Sun, Haojie^{Aff1, Aff2, Aff3}, Xu, Xinda^{Aff1, Aff2, Aff3}, Chen, Binjun^{Aff1, Aff2, Aff3}, Wang, Yanmei^{Aff1, Aff2, Aff3}, Lyu, Jihan^{Aff1, Aff2, Aff3}, Guo, Luo^{Aff2, Aff4, IDs12920024018284_cor6}, Yuan, Yasheng^{Aff1, Aff2, Aff3, IDs12920024018284_cor7}, Ren, Dongdong^{Aff1, Aff2, Aff3, IDs12920024018284_cor8}

المصدر: BMC Medical Genomics. 17(1)

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: 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

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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: Pellerin, Philippe^Aff5, Alonso, Nivaldo^Aff6, da Silva Freitas, Renato^{Aff7, Aff8}, Tonello, Cristiano^Aff9

المساهمون: Alonso, Nivaldo, editor^Aff1, Freitas, Renato da Silva, editor^Aff2, Tonello, Cristiano, editor^Aff3, Pellerin, Philippe, editor^Aff4

المصدر: Facial Reconstruction of Unusual Facial Clefts : A Guide to Diagnosis and Treatment. :215-250

المؤلفون: Meyer, Ulrich^Aff2, Kerkfeld, Valentin^Aff3

المساهمون: Meyer, Ulrich, editor^Aff1

المصدر: Fundamentals of Craniofacial Malformations : Vol. 2, Treatment Principles. :91-115

المؤلفون: Carstens, Michael H.^Aff2

المساهمون: Carstens, Michael H., editor^Aff1

المصدر: The Embryologic Basis of Craniofacial Structure : Developmental Anatomy, Evolutionary Design, and Clinical Applications. :51-137