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1دورية أكاديمية
المؤلفون: Qiaochu Wang, Zengge Wang, Yizhen Wang, Zhan Qi, Dayong Bai, Chentong Wang, Yuanying Chen, Wenjian Xu, Xili Zhu, Jaepyo Jeon, Jian Xiong, Chanjuan Hao, Michael Xi Zhu, Aihua Wei, Wei Li
المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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المؤلفون: Helen J. Kuht, Gail D.E. Maconachie, Jinu Han, Line Kessel, Maria M. van Genderen, Rebecca J. McLean, Michael Hisaund, Zhanhan Tu, Richard W. Hertle, Karen Gronskov, Dayong Bai, Aihua Wei, Wei Li, Yonghong Jiao, Vasily Smirnov, Jae-Hwan Choi, Martin D. Tobin, Viral Sheth, Ravi Purohit, Basu Dawar, Ayesha Girach, Sasha Strul, Laura May, Fred K. Chen, Rachael C. Heath Jeffery, Abdullah Aamir, Ronaldo Sano, Jing Jin, Brian P. Brooks, Susanne Kohl, Benoit Arveiler, Lluis Montoliu, Elizabeth C. Engle, Frank A. Proudlock, Garima Nishad, Prateek Pani, Girish Varma, Irene Gottlob, Mervyn G. Thomas
المصدر: Ophthalmology. 129:708-718
مصطلحات موضوعية: Ophthalmology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0c0059ea27383e7a2b23c16f05d31c34Test
https://doi.org/10.1016/j.ophtha.2022.02.010Test -
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المؤلفون: Dayong Bai, Xiumin Yang, Qiaorong Huang, Xingfeng Yao, Zhan Qi, Lin Yang, Yefeng Yuan, Wei Li, Aihua Wei, Tianjiao Zhang, Teng Liu
المصدر: The Journal of Dermatology. 48:676-680
مصطلحات موضوعية: Male, China, Pathology, medicine.medical_specialty, Photophobia, Biogenesis of lysosome-related organelles complex 1, Dermatology, medicine.disease_cause, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Asian People, hemic and lymphatic diseases, Exome Sequencing, Humans, Medicine, Immunodeficiency, Exome sequencing, Mutation, integumentary system, business.industry, General Medicine, medicine.disease, eye diseases, White (mutation), Hermanski-Pudlak Syndrome, 030220 oncology & carcinogenesis, Albinism, medicine.symptom, Hermansky–Pudlak syndrome, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2cd3d2c34c50bf7fdcaaf22cac13b46Test
https://doi.org/10.1111/1346-8138.15762Test -
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المؤلفون: Yunlan Zhang, Xiumin Yang, Teng Liu, Wei Li, Aihua Wei, Yingzi Zhang, Dayong Bai
المصدر: The Journal of Dermatology. 46:1027-1030
مصطلحات موضوعية: medicine.medical_specialty, Dermatology, SLC24A5, medicine.disease_cause, Antiporters, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Genotype-phenotype distinction, Asian People, Humans, Medicine, Frameshift Mutation, Gene, Genotyping, Hypopigmentation, Genetics, Mutation, biology, business.industry, Infant, General Medicine, medicine.disease, Oculocutaneous albinism, Albinism, Oculocutaneous, Child, Preschool, 030220 oncology & carcinogenesis, biology.protein, Medical genetics, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4af03df1d961473e5305f45eeaf5274fTest
https://doi.org/10.1111/1346-8138.15065Test -
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المؤلفون: Yingzi Zhang, Yunlan Zhang, Zhan Qi, Tianjiao Zhang, Wei Li, Teng Liu, Dayong Bai, Xiumin Yang, Qiaorong Huang, Aihua Wei, Yefeng Yuan
المصدر: The Journal of investigative dermatology. 142(6)
مصطلحات موضوعية: Oncology, medicine.medical_specialty, China, Index (economics), Albinism, Spectrum Analysis, Cell Biology, Dermatology, Biology, medicine.disease, Biochemistry, Large cohort, Cohort Studies, Asian People, Albinism, Oculocutaneous, Internal medicine, Mutation, medicine, Humans, Spectrum analysis, Molecular Biology, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b6636485e063707e995d12a78cb7618Test
https://pubmed.ncbi.nlm.nih.gov/34838614Test -
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المؤلفون: Xu Wang, Junyang Zhao, Jun Gao, Li Li, Dayong Bai
المصدر: SCIENTIA SINICA Vitae. 48:967-974
مصطلحات موضوعية: Genetics, Tuberous sclerosis, Genotype-phenotype distinction, medicine, Pharmacology (medical), Biology, medicine.disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::26e1772b41e3c512e67b5a04e02460d2Test
https://doi.org/10.1360/n052018-00090Test -
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المؤلفون: Xiumin Yang, Teng Liu, Zhan Qi, Lin Yang, Aihua Wei, Yefeng Yuan, Wei Li, Dayong Bai, Tianjiao Zhang
المصدر: Pigment cellmelanoma researchREFERENCES. 34(1)
مصطلحات موضوعية: 0301 basic medicine, Ocular albinism, Adult, Male, Genotype, Dermatology, Gene mutation, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Asian People, hemic and lymphatic diseases, medicine, Humans, Allele, Child, Hypopigmentation, Genetics, integumentary system, business.industry, Infant, Newborn, Infant, Membrane Proteins, respiratory system, medicine.disease, Oculocutaneous albinism, eye diseases, Pedigree, Bleeding diathesis, 030104 developmental biology, Oncology, Hermanski-Pudlak Syndrome, 030220 oncology & carcinogenesis, Child, Preschool, Mutation, Albinism, Female, Hermansky–Pudlak syndrome, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::891c1f2974eb1f66b9eab1ddda15bb24Test
https://pubmed.ncbi.nlm.nih.gov/32725903Test -
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المؤلفون: Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Wei, Li, Aihua, Wei, Dayong, Bai, Zhan, Qi, Chanjuan, Hao
المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(3)
مصطلحات موضوعية: China, Asian People, Albinism, Genes, X-Linked, Mutation, Practice Guidelines as Topic, Humans
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::8f9b5de94151ab201715df1225f882d6Test
https://pubmed.ncbi.nlm.nih.gov/32128740Test -
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المؤلفون: Jiaying Yu, Yefeng Yuan, Yingzi Zhang, Dayong Bai, Jing Ma, Aihua Wei, Li Li, Wei Li, Zhiyong Zhou, Zhenhua Hao, Xiumin Yang, Lin Yang
المصدر: Pigment Cell & Melanoma Research. 29:702-706
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Genotype, Adaptor Protein Complex 3, Dermatology, Biology, Compound heterozygosity, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, hemic and lymphatic diseases, medicine, Humans, Adaptor Protein Complex beta Subunits, Allele, Child, Genotyping, Hypopigmentation, Genetics, integumentary system, Intracellular Signaling Peptides and Proteins, High-Throughput Nucleotide Sequencing, Infant, Membrane Proteins, respiratory system, medicine.disease, Oculocutaneous albinism, eye diseases, Pedigree, Bleeding diathesis, 030104 developmental biology, Oncology, Hermanski-Pudlak Syndrome, Child, Preschool, 030220 oncology & carcinogenesis, Mutation, Albinism, Female, Hermansky–Pudlak syndrome, medicine.symptom, Carrier Proteins, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c29981f1965267d8c3e2900ac7c9fd3aTest
https://doi.org/10.1111/pcmr.12534Test -
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المؤلفون: Jun Gao, Li Li, Junyang Zhao, Dayong Bai, Xu Wang, Ningli Wang
المصدر: Chinese Medical Journal
Chinese Medical Journal, Vol 129, Iss 10, Pp 1229-1235 (2016)مصطلحات موضوعية: Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, genetic structures, Adolescent, Eye Diseases, Fundus Oculi, Hamartoma, lcsh:Medicine, Diagnostic Techniques, Ophthalmological, 03 medical and health sciences, chemistry.chemical_compound, Tuberous sclerosis, 0302 clinical medicine, Optical coherence tomography, Tuberous Sclerosis, Ophthalmology, medicine, Photography, Humans, In patient, Child, Infrared Imaging, Color fundus photography, medicine.diagnostic_test, business.industry, lcsh:R, Fundus photography, Cycloplegia, Retinal, General Medicine, medicine.disease, eye diseases, chemistry, Fundus Photography, Optical Coherence Tomography, Tuberous Sclerosis Complex, 030221 ophthalmology & optometry, Optometry, Original Article, Female, sense organs, medicine.symptom, business, 030217 neurology & neurosurgery, Tomography, Optical Coherence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e952ad3123e95825077db895aa1579c4Test
http://europepmc.org/articles/PMC4878170Test