المؤلفون: Cannova, Silvia, Meossi, Camilla, Grilli, Federico, Milani, Donatella, Alberti, Federica, Cesaretti, Claudia, Marchisio, Paola Giovanna, Crosti, Francesca, Pezzani, Lidia

المساهمون: S. Cannova, C. Meossi, F. Grilli, D. Milani, F. Alberti, C. Cesaretti, P.G. Marchisio, F. Crosti, L. Pezzani

مصطلحات موضوعية: CATSHL syndrome, FGFR3, LADD syndrome, camptodactyly, deafne, overgrowth, scoliosis, Settore MED/38 - Pediatria Generale e Specialistica

Relation: info:eu-repo/semantics/altIdentifier/pmid/37990933; info:eu-repo/semantics/altIdentifier/wos/WOS:001109253300001; volume:105; issue:3; firstpage:313; lastpage:316; numberofpages:4; journal:CLINICAL GENETICS; https://hdl.handle.net/2434/1022893; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85177554891

الاتاحة: https://hdl.handle.net/2434/1022893
https://doi.org/10.1111/cge.14455

المؤلفون: Hwa Young Kim, Jung Min Ko

المصدر: Annals of Pediatric Endocrinology & Metabolism, Vol 27, Iss 2, Pp 90-97 (2022)

مصطلحات موضوعية: fgfr3, skeletal dysplasia, achondroplasia, hypochondroplasia, thanatophoric dysplasia, saddan, catshl syndrome, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://e-apem.org/upload/pdf/apem-2244114-057.pdf; https://doaj.org/toc/2287-1012; https://doaj.org/toc/2287-1292

URL الوصول: https://doaj.org/article/915504edd4c34373b9b9d9d7c784b9dc

المؤلفون: Dali Zhang, Yangli Xie, Di Chen, Shuai Chen, Hangang Chen, Nan Su, Xianding Sun, Zhenhong Ni, Xin Zhang, Junlan Huang, Mi Liu, Jing Yang, Meng Xu, Fengtao Luo, Min Jin, Sen Liang, Huabing Qi, Xiaolan Du, Ruobin Zhang, Bin Zhang, Lingfei Luo, Qiaoyan Tan, Lin Chen

المصدر: Theranostics

مصطلحات موضوعية: Skeletal development, Medicine (miscellaneous), 03 medical and health sciences, Maldevelopment, medicine, Pharmacology, Toxicology and Pharmaceutics (miscellaneous), Zebrafish, 030304 developmental biology, 0303 health sciences, Wnt/β-catenin, biology, Ossification, Cartilage, 030305 genetics & heredity, Wnt signaling pathway, Chondrogenesis, biology.organism_classification, Cell biology, CATSHL syndrome, medicine.anatomical_structure, Fibroblast growth factor receptor, FGFR3, medicine.symptom, Pharyngeal arch, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f6883296bbc63979b8ea1b84bfcd745
http://europepmc.org/articles/PMC7330844