المؤلفون: Yujing Gong, Weijian Zhu, Mianmian Zhu, Dan Chen, Sunke Wu, Sisi Hu, Yi Luo, Yiyi Jiang, Ting Zhu, Dan Wang

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: Stickler syndrome, functional analysis, COL2A1 gene, intron heterozygote variant, type II collagenopathies, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1308737/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/63e3e3f513d44b9d9db7c02a73571eca

المؤلفون: Enrica Marchionni, Maria Rosaria D'Apice, Viviana Lupo, Giovanna Lattanzi, Elisabetta Mattioli, Gina Lisignoli, Elena Gabusi, Gerardo Pepe, Manuela Helmer Citterich, Elena Campione, Anna Maria Nardone, Paola Spitalieri, Noemi Pucci, Dario Cocciadiferro, Eliseo Picchi, Francesco Garaci, Antonio Novelli, Giuseppe Novelli

المصدر: Bone Reports, Vol 19, Iss , Pp 101728- (2023)

مصطلحات موضوعية: COL2A1, Type-II collagenopathies, Reverse-phenotyping, Exome sequencing, Functional characterization, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352187223000748; https://doaj.org/toc/2352-1872

URL الوصول: https://doaj.org/article/7aab59cb6a3344baa1cce4c1308ebddc

المؤلفون: Qianwen Zhang, Ruen Yao, Qun Li, Xin Li, Biyun Feng, Guoying Chang, Jian Wang, Xiumin Wang

المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: Type II collagenopathies, COL2A1 gene, Whole-exome sequencing, Novel variant, Rare complex syndrome, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/9c8279160a45475284a3b828201879f5

المؤلفون: Zhang, Qianwen^{Aff1, Aff3}, Yao, Ruen, Li, Qun, Li, Xin, Feng, Biyun, Chang, Guoying, Wang, Jian, Wang, Xiumin^{Aff1, Aff3}

المصدر: BMC Medical Genomics. 14(1)

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المؤلفون: Krakow, Deborah

المصدر: Clinics in Perinatology. 42(2)

مصطلحات موضوعية: Clinical Research, Dental/Oral and Craniofacial Disease, Pediatric, Musculoskeletal, Good Health and Well Being, Bone Diseases, Developmental, Genetic Testing, Global Health, Humans, Infant, Newborn, Morbidity, Osteochondrodysplasias, Skeletal dysplasias, Nonassortive mating, Achondroplasia, Type II collagenopathies, Osteogenesis imperfecta, Clinical Sciences, Paediatrics and Reproductive Medicine, Pediatrics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/72p6229v

المؤلفون: Wyeld, Theodor, Zankl, Andreas

المصدر: 2008 Fifth International Conference BioMedical Visualization: Information Visualization in Medical and Biomedical Informatics BioMedical Visualization, 2008. MEDIVIS '08. Fifth International Conference. :53-56 Jul, 2008

Relation: 2008 Fifth International Conference BioMedical Visualization: Information Visualization in Medical and Biomedical Informatics (MEDIVIS)

المؤلفون: Marek Laboš, Sylva Kaupová, Kateřina Tomková, Jan Cvrček, Vítězslav Kuželka, Sacha Kacki, Eliška Zazvonilová, Alena Němečková, Valér Džupa, Petr Velemínský

المساهمون: National Museum, Prague, De la Préhistoire à l'Actuel : Culture, Environnement et Anthropologie (PACEA), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)

المصدر: International Journal of Paleopathology
International Journal of Paleopathology, Elsevier, 2020, 30, pp.35-46. ⟨10.1016/j.ijpp.2020.04.004⟩

مصطلحات موضوعية: Adult, Male, Czech, Archeology, Pediatrics, medicine.medical_specialty, Type II collagenopathies, [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, Postcrania, Hip dysplasia (canine), Bone and Bones, Pathology and Forensic Medicine, Multiple epiphyseal dysplasia, Joint disease, Osteoarthritis, medicine, Hip Dislocation, Humans, Cemeteries, 0601 history and archaeology, Czech Republic, 060101 anthropology, 060102 archaeology, business.industry, 06 humanities and the arts, Middle Aged, Hip dysplasia, medicine.disease, History, Medieval, language.human_language, Diet, Polyarticular osteoarthritis, Dysplasia, Skeletal dysplasia, language, Female, Middle Ages, business, Medical literature

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad35146cb5ade4b5250d434c86f9354a
https://doi.org/10.1016/j.ijpp.2020.04.004

المؤلفون: Qun Li, Jian Wang, Qianwen Zhang, Guoying Chang, Xiumin Wang, Ruen Yao, Xin Li, Biyun Feng

المصدر: BMC Medical Genomics
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: Type II collagenopathies, Case Report, QH426-470, Biology, Osteochondrodysplasias, symbols.namesake, Genotype, Genetics, medicine, Missense mutation, Internal medicine, Genetics (clinical), Exome sequencing, Sanger sequencing, Osteochondritis, COL2A1 gene, Autosomal dominant trait, medicine.disease, RC31-1245, Novel variant, Human genetics, Rare complex syndrome, Dysplasia, Whole-exome sequencing, symbols

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92985e73137c8df374d16ce1e63e2658
https://doi.org/10.1186/s12920-021-01048-0

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