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1دورية أكاديمية
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
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2دورية أكاديمية
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
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3دورية أكاديمية
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
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4دورية أكاديمية
المؤلفون: Zhang, QianwenAff1, Aff3, Yao, Ruen, Li, Qun, Li, Xin, Feng, Biyun, Chang, Guoying, Wang, Jian, Wang, XiuminAff1, Aff3
المصدر: BMC Medical Genomics. 14(1)
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5دورية أكاديمية
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6دورية أكاديمية
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
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7مؤتمر
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)
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8
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
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9
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
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10دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.