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1دورية أكاديمية
المؤلفون: Tao Zhang, Lei Xu, Hongdan Zhu, Yuyi Ying, Jinlong Ding, Haigang Ding, Xiaoliang Shi, Yao He, Xin Jin, Guiyu Xia
المصدر: Frontiers in Endocrinology, Vol 14 (2023)
مصطلحات موضوعية: neurodevelopmental disorders, SRRM2 gene, whole exome sequencing, 3D structure, prenatal diagnosis, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Yuyi Ying, Lu Lu, Santasree Banerjee, Lizhen Xu, Qiang Zhao, Hao Wu, Ruiqi Li, Xiao Xu, Hua Yu, Dante Neculai, Yongmei Xi, Fan Yang, Jiale Qin, Chen Li
المصدر: Human Genomics, Vol 14, Iss 1, Pp 1-8 (2020)
مصطلحات موضوعية: Keratin genes, Genodermatoses, Pathogenicity, Missense variants, Novel variants, Database, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1479-7364
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3دورية أكاديمية
المؤلفون: Tao Zhang, Hua Yuan, Hongdan Zhu, Yuyi Ying, Jinlong Ding, Haigang Ding, Xiaoliang Shi, Yao He, Haitao Pan, Yongxing Zhong
المصدر: Frontiers in Genetics, Vol 12 (2022)
مصطلحات موضوعية: congenital heart disease, DNAH9 gene, copy number variation sequencing, whole exome sequencing, 3D structure, Genetics, QH426-470
وصف الملف: electronic resource
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4
المؤلفون: Qiang Zhao, Jiale Qin, Lu Lu, Xiao Xu, Yuyi Ying, Hao Wu, Dante Neculai, Yongmei Xi, Santasree Banerjee, Ruiqi Li, Hua Yu, Lizhen Xu, Fan Yang, Chen Li
المصدر: Human Genomics, Vol 14, Iss 1, Pp 1-8 (2020)
Human Genomicsمصطلحات موضوعية: lcsh:QH426-470, Mutation, Missense, lcsh:Medicine, Biology, Proteomics, computer.software_genre, Polymorphism, Single Nucleotide, Conserved sequence, Database, 03 medical and health sciences, Missense variants, 0302 clinical medicine, Databases, Genetic, Genodermatoses, Drug Discovery, Keratin, Genetics, Humans, Protein Isoforms, Pathogenicity, Missense mutation, Genetic Predisposition to Disease, Molecular Biology, Gene, 030304 developmental biology, chemistry.chemical_classification, Keratin genes, 0303 health sciences, lcsh:R, Wild type, Computational Biology, Reproducibility of Results, Skin Diseases, Genetic, Human genetics, lcsh:Genetics, Heptad repeat, Phenotype, chemistry, Keratins, Molecular Medicine, Novel variants, Primary Research, computer, 030217 neurology & neurosurgery
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5
المؤلفون: Chen Li, Matsuyuki Shirota, Santasree Banerjee, Yanni Li, Yuyi Ying, Qian Wu, Dante Neculai
المصدر: Oncotarget
مصطلحات موضوعية: 0301 basic medicine, Models, Molecular, medicine.medical_specialty, In silico, Mutation, Missense, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, missense mutations, Protein Domains, Pathology Section, medicine, Substituted Amino Acid, in silico analysis, Missense mutation, SNP, Humans, Computer Simulation, Amino Acid Sequence, Gene, Skin, Genetics, Binding Sites, integumentary system, Skin Diseases, Genetic, Keratin-10, Phenotype, Research Paper: Pathology, coiled-coil heterodimer, genodermatoses, 030104 developmental biology, Oncology, Medical genetics, Protein Multimerization, Keratin-1, Protein Binding
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dab97b7b47ddcce5dc85a289cedbf1b8
http://europepmc.org/articles/PMC5288147