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1مؤتمر
المؤلفون: Tian Tian, Yuanhao Li, Jia Li, Guiling Zhang, Jian Wang, Changhua Wan, Jicheng Fang, Di Wu, Yiran Zhou, Yuanyuan Qin, Hongquan Zhu, Dong Liu, Wenzhen Zhu
مصطلحات موضوعية: Neuroscience, Biological Engineering, Developmental Biology, Stem Cells, Artificial Intelligence and Image Processing, Endocrinology, Radiology and Organ Imaging, Autonomic Nervous System, Cellular Nervous System, Central Nervous System, Sensory Systems, Clinical Nursing: Tertiary (Rehabilitative), Decision Making, Rehabilitation Engineering, Biomedical Engineering not elsewhere classified, Signal Processing, Neurogenetics, Image Processing, childhood abuse, polygenic risk score (PRS), gene expression, neuroimaging, whole exome sequencing (WES)
الإتاحة: https://doi.org/10.3389/fnins.2022.1019718.s001Test
https://figshare.com/articles/presentation/Presentation_1_Genetic_influence_on_brain_volume_alterations_related_to_self-reported_childhood_abuse_pdf/21160282Test -
2دورية أكاديمية
المؤلفون: Fatemeh Bitarafan (10771937), Mehrnoosh Khodaeian (10771940), Elham Amjadi Sardehaei (10771943), Fatemeh Zahra Darvishi (10771946), Navid Almadani (10771949), Yalda Nilipour (6041981), Masoud Garshasbi (10771952)
مصطلحات موضوعية: Biochemistry, Medicine, Cell Biology, Genetics, Neuroscience, Cancer, Virology, Computational Biology, Chemical Sciences not elsewhere classified, Ca2+, Mitochondrial calcium uptake 1 (MICU1), Myopathy with extrapyramidal signs (MPXPS), Whole exome sequencing (WES)
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3دورية أكاديمية
المؤلفون: González-Tablas, María, Prieto, Carlos, Arandia, Daniel, Jara-Acevedo, Maria, Otero, Álvaro, Pascual, Daniel, Ruíz, Laura, Álvarez-Twose, Iván, García-Montero, Andrés, Orfao, Alberto, Tabernero, María D.
المساهمون: Instituto de Investigación Biomédica de Salamanca, Junta de Castilla y León, European Commission, Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España)
مصطلحات موضوعية: Mutational profiles, Whole exome sequencing (WES), NF2, PTEN, Cytogenetics, WHO grade 1 meningioma
العلاقة: Publisher's version; http://dx.doi.org/10.3389/fonc.2021.740782Test; Sí; Frontiers in Oncology 11: 740782 (2021); http://hdl.handle.net/10261/262431Test; http://dx.doi.org/10.13039/501100000780Test; http://dx.doi.org/10.13039/501100004587Test; http://dx.doi.org/10.13039/501100014180Test; http://dx.doi.org/10.13039/501100003329Test
الإتاحة: https://doi.org/10.3389/fonc.2021.740782Test
https://doi.org/10.13039/501100000780Test
https://doi.org/10.13039/501100004587Test
https://doi.org/10.13039/501100014180Test
https://doi.org/10.13039/501100003329Test
http://hdl.handle.net/10261/262431Test -
4
المؤلفون: Yongyi Zou
مصطلحات موضوعية: Medical genetics (excl. cancer genetics), Whole Exome Sequencing (WES), DYRK1A kinase, Sanger sequence data
الإتاحة: https://doi.org/10.6084/m9.figshare.24598266.v1Test
https://figshare.com/articles/dataset/Identification_of_two_novel_and_one_rare_mutation_in_DYRK1A_and_Prenatal_diagnoses_in_three_Chinese_families_with_Intellectual_Disability-7/24598266Test -
5
المؤلفون: Chen Li (54018), Xingwang Wang (2439220), Fake Li (149551), Hongke Ding (11340480), Ling Liu (143030), Ying Xiong (245379), Chaoxiang Yang (13115481), Yan Zhang (8098), Jing Wu (54032), Aihua Yin (528249)
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, Joubert syndrome, OFD1, novel non-sense variant, MRI, whole exome sequencing (WES), RNA-seq
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6
المؤلفون: Chen Li, Xingwang Wang, Fake Li, Hongke Ding, Ling Liu, Ying Xiong, Chaoxiang Yang, Yan Zhang, Jing Wu, Aihua Yin
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, Joubert syndrome, OFD1, novel non-sense variant, MRI, whole exome sequencing (WES), RNA-seq
الإتاحة: https://doi.org/10.3389/fgene.2022.1064762.s001Test
https://figshare.com/articles/dataset/DataSheet1_A_novel_non-sense_variant_in_the_OFD1_gene_caused_Joubert_syndrome_zip/21853548Test -
7
مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, primary immunodeficiency, novel mutation, combined immunotherapy, whole exome sequencing (WES), CD4+/CD8+ lymphocytes
الإتاحة: https://doi.org/10.3389/fped.2022.1042302.s002Test
https://figshare.com/articles/dataset/Datasheet2_Case_report_Primary_immunodeficiency_due_to_a_novel_mutation_in_CARMIL2_and_its_response_to_combined_immunomodulatory_therapy_pdf/21902511Test -
8
مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, primary immunodeficiency, novel mutation, combined immunotherapy, whole exome sequencing (WES), CD4+/CD8+ lymphocytes
الإتاحة: https://doi.org/10.3389/fped.2022.1042302.s001Test
https://figshare.com/articles/dataset/Datasheet1_Case_report_Primary_immunodeficiency_due_to_a_novel_mutation_in_CARMIL2_and_its_response_to_combined_immunomodulatory_therapy_pdf/21902508Test -
9
مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, primary immunodeficiency, novel mutation, combined immunotherapy, whole exome sequencing (WES), CD4+/CD8+ lymphocytes
الإتاحة: https://doi.org/10.3389/fped.2022.1042302.s003Test
https://figshare.com/articles/dataset/Datasheet3_Case_report_Primary_immunodeficiency_due_to_a_novel_mutation_in_CARMIL2_and_its_response_to_combined_immunomodulatory_therapy_pdf/21902514Test -
10
المؤلفون: Yvonne Poker, Sandra von Hardenberg, Winfried Hofmann, Ming Tang, Ulrich Baumann, Nicolaus Schwerk, Martin Wetzke, Viola Lindenthal, Bernd Auber, Brigitte Schlegelberger, Hagen Ott, Philipp von Bismarck, Dorothee Viemann, Frank Dressler, Christian Klemann, Anke Katharina Bergmann
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, autoinflammatory diseases, inborn errors of immunity (IEI), FMF, whole exome sequencing (WES), genetic diagnostics
الإتاحة: https://doi.org/10.3389/fgene.2023.1065907.s002Test
https://figshare.com/articles/dataset/Table2_Systematic_genetic_analysis_of_pediatric_patients_with_autoinflammatory_diseases_XLSX/21966257Test