المؤلفون: Emma M. Wade, Elizabeth A. Goodin, Yongqiang Wang, Tim Morgan, Karen E. Callon, Maureen Watson, Philip B. Daniel, Jillian Cornish, Christopher A. McCulloch, Stephen P. Robertson

المصدر: Bone Reports, Vol 18, Iss , Pp 101668- (2023)

مصطلحات موضوعية: FLNA, Otopalatodigital Spectrum Disorders, Micro-CT, Mouse model, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352187223000165; https://doaj.org/toc/2352-1872

URL الوصول: https://doaj.org/article/e1d3a0ee7c5846fd9b88d82042cd0969

المؤلفون: Yapijakis, Christos^{Aff8, Aff9, Aff10}, Vylliotis, Antonis^{Aff9, Aff11}, Angelopoulou, Antonia^{Aff8, Aff9}, Adamopoulou, Mary^Aff9, Chrousos, George P.^Aff10, Voumvourakis, Costas^Aff12

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, Vlamos, Panayiotis, editor^Aff7

المصدر: GeNeDis 2020 : Genetics and Neurodegenerative Diseases. 1339:319-323

المؤلفون: Huntley, James S.^Aff5

المساهمون: Alshryda, Sattar, editor^Aff1, Howard, Jason J., editor^Aff2, Huntley, James S., editor^Aff3, Schoenecker, Jonathan G., editor^Aff4

المصدر: The Pediatric and Adolescent Hip : Essentials and Evidence. :651-672

المؤلفون: Jaewon Kim, Dong-Woo Lee, Dae-Hyun Jang

المصدر: Frontiers in Pediatrics, Vol 9 (2021)

مصطلحات موضوعية: frontometaphyseal dysplasia 1, otopalatodigital spectrum disorder, syringomyelia, Chiari I malformation, FLNA gene mutation, pansynostosis, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.574402/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/19b28d45d3424723a2d390694745bbc5

المؤلفون: Chen, Harold^Aff2

المساهمون: Chen, Harold^Aff1

المصدر: Atlas of Genetic Diagnosis and Counseling. :1693-1706

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تسجيل الدخول للوصول الكامل.

المساهمون: Chen, Harold, editor^Aff1

المصدر: Atlas of Genetic Diagnosis and Counseling. :1661-1669

المؤلفون: Joël Ferri, Romain Nicot, Thomas Roland-Billecart, Matthias Schlund, Ludovic Lauwers

المصدر: The Journal of craniofacial surgery. 32(8)

مصطلحات موضوعية: Male, medicine.medical_specialty, Filamins, Gene mutation, Osteochondrodysplasias, Craniofacial Abnormalities, Otopalatodigital Syndrome Type 1, medicine, FLNA, Humans, business.industry, Genetic Diseases, X-Linked, General Medicine, medicine.disease, Dermatology, Terminal osseous dysplasia with pigmentary defects, Frontometaphyseal dysplasia, Phenotype, Otorhinolaryngology, Mutation, Oral and maxillofacial surgery, Surgery, Female, Complication, business, Hand Deformities, Congenital, Otopalatodigital syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8b3cbcae61da812fc3157a3d6304f30
https://pubmed.ncbi.nlm.nih.gov/34183625

المؤلفون: Pooja Prabhakar Kamath

المصدر: International Journal of Recent Surgical and Medical Sciences, Vol 7, Iss 02, Pp 91-93 (2021)

مصطلحات موضوعية: Orthopedic surgery, medicine.medical_specialty, Clinodactyly, business.industry, otopalatodigital syndrome, Genetic counseling, Brachydactyly, syndactyly, medicine.disease, Dermatology, Pectus excavatum, orofaciodigital syndrome, medicine, Alveolar ridge, Syndactyly, medicine.symptom, Hypertelorism, business, RD701-811, Low-set ears

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82f05b3b6a3c5c2fb8c5803fc12ea406
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0041-1730256

المؤلفون: Ana Navedo, Cervera-Paz Fj, Marta Martinez-Lopez, Reyes López de Mesa

المصدر: Acta Otorrinolaringológica Española. 70:306-309

مصطلحات موضوعية: Heterozygote, Filamins, Computed tomography, Osteochondrodysplasias, Craniofacial Abnormalities, Pectus Carinatum, X ray computed, Temporal bone, Humans, Point Mutation, Medicine, Abnormalities, Multiple, Child, Braces, medicine.diagnostic_test, business.industry, Point mutation, Temporal Bone, Exons, General Medicine, Early Diagnosis, Phenotype, Otorhinolaryngology, Female, Tomography, X-Ray Computed, business, Nuclear medicine, Hand Deformities, Congenital, Novel mutation, Otopalatodigital syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e322a8676193bdbfc72260ec564e2449
https://doi.org/10.1016/j.otorri.2018.05.003