-
1مورد إلكتروني
-
2مورد إلكتروني
المؤلفون: Yang, Liu, Ou, Yanan, Wu, Bangsheng
مصطلحات موضوعية: whole exome sequencing, immune-mediated disease, autoimmune disease, protein-coding variants
العلاقة: https://github.com/Sirius-Yang/IMDs_WES/tree/1.1Test; https://dx.doi.org/10.5281/zenodo.11260211Test; https://dx.doi.org/10.5281/zenodo.11307851Test; https://dx.doi.org/10.5281/zenodo.11307833Test
-
3دورية أكاديمية
المؤلفون: Hany Aref, Mohamed Maged, Tamer Roushdy, Hossam Shokri, Eman Hamid, Bernard P. H. Cho, Hugh S. Markus, Mai Fathy, Nevine El Nahas
مصطلحات موضوعية: Medicine, Genetics, Neuroscience, Immunology, Biological Sciences not elsewhere classified, Cerebral small vessel disease, Monogenic, Whole exome sequencing, Vascular dementia
الإتاحة: https://doi.org/10.6084/m9.figshare.25309900.v1Test
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Whole_exome_sequencing_in_a_sample_of_Egyptian_patients_with_covert_cerebral_small_vessel_disease/25309900Test -
4دورية أكاديمية
مصطلحات موضوعية: Genetics, Neuroscience, Biotechnology, Cancer, Science Policy, Biological Sciences not elsewhere classified, whole exome sequencing, specific protein domains, potential therapeutic targets, new therapeutic strategies, malignant neoplasm originating, improved therapeutic interventions, drug sensitivity prediction, current study aimed, amino acid changes, adjuvant temozolomide chemotherapy, favorable overall survival, div >< p, aforementioned gbm datasets, gbm datasets, treat despite, survival analysis, somatic interactions, results identified, remains challenging, os ), obscn <, glial cells, genetic alterations, gbm )
الإتاحة: https://doi.org/10.1371/journal.pone.0295698.s001Test
https://figshare.com/articles/journal_contribution/Contains_all_data_for_S1-S3_Tables_and_S1_S2_Figs_/24930219Test -
5دورية أكاديمية
المؤلفون: Mengge Gao, Xiaohua Liu, Heng Gu, Hang Xu, Wenyao Zhong, Xiangcai Wei, Xingming Zhong
مصطلحات موضوعية: Genetics, Polycystic ovary syndrome, Single nucleotide polymorphism, Transforming growth factor β1, TGF-β1, DNA methylation, PCOS epigenetics, Insulin resistance, Whole exome sequencing
الإتاحة: https://doi.org/10.6084/m9.figshare.24934433.v1Test
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Association_between_single_nucleotide_polymorphisms_TGF-_1_promoter_methylation_and_polycystic_ovary_syndrome/24934433Test -
6دورية أكاديمية
المؤلفون: Shaobin Lin, Shanshan Shi, Jian Lu, Zhiming He, Danlun Li, Linhuan Huang, Xuan Huang, Yi Zhou, Yanmin Luo
مصطلحات موضوعية: Genetics, Cancer, Science Policy, Computational Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Congenital heart defect, Prenatal diagnosis, Chromosomal abnormalities, Numerical chromosomal abnormality, Copy number variant, Sequence variant, Chromosome microarray analysis, Whole-exome sequencing
الإتاحة: https://doi.org/10.6084/m9.figshare.24946489.v1Test
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Contribution_of_genetic_variants_to_congenital_heart_defects_in_both_singleton_and_twin_fetuses_a_Chinese_cohort_study/24946489Test -
7دورية أكاديمية
المؤلفون: Yong Huang, Yuanyuan Xiao, Shengqiu Qu, Jiaming Xue, Lin Zhang, Li Wang, Weibo Liang
مصطلحات موضوعية: Biophysics, Medicine, Genetics, Neuroscience, Science Policy, Virology, Biological Sciences not elsewhere classified, Information Systems not elsewhere classified, Coding single-nucleotide polymorphisms, Whole-exome sequencing, Sample tracking, Personal identification, Parentage test
الإتاحة: https://doi.org/10.6084/m9.figshare.25150515.v1Test
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Development_of_a_coding_SNP_panel_for_tracking_the_origin_of_whole-exome_sequencing_samples/25150515Test -
8دورية أكاديمية
المؤلفون: Mohammad-Reza Ghasemi, Sahand Tehrani Fateh, Aysan Moeinafshar, Hossein Sadeghi, Parvaneh Karimzadeh, Reza Mirfakhraie, Mitra Rezaei, Farzad Hashemi-Gorji, Morteza Rezvani Kashani, Fatemehsadat Fazeli Bavandpour, Saman Bagheri, Parinaz Moghimi, Masoumeh Rostami, Rasoul Madannejad, Hassan Roudgari, Mohammad Miryounesi
مصطلحات موضوعية: Genetics, Pontocerebellar Hypoplasia, PCH, Whole exome sequencing, WES, Novel mutations, Novel clinical findings
الإتاحة: https://doi.org/10.6084/m9.figshare.25210684.v1Test
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Broadening_the_phenotype_and_genotype_spectrum_of_novel_mutations_in_pontocerebellar_hypoplasia_with_a_comprehensive_molecular_literature_review/25210684Test -
9دورية أكاديمية
المؤلفون: Xu Yan, Yueyue Hu, Xin Zhang, Xia Gao, Yang Zhao, Haiying Peng, Liu Ouyang, Changjun Zhang
مصطلحات موضوعية: Genetics, Antenatal Bartter syndrome, Whole exome sequencing, MAGED2, Intronic variant
الإتاحة: https://doi.org/10.6084/m9.figshare.25025854.v1Test
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Identification_of_a_novel_intronic_mutation_of_MAGED2_gene_in_a_Chinese_family_with_antenatal_Bartter_syndrome/25025854Test -
10دورية أكاديمية
المؤلفون: Haliton Alves de Oliveira Junior, Precil Diego Miranda de Menezes Neves, Gustavo Bernardes de Figueiredo Oliveira, Frederico Rafael Moreira, Maria Carolina Tostes Pintão, Viviane Zorzanelli Rocha, Cristiane de Souza Rocha, Viviane Nakano Katz, Elisa Napolitano Ferreira, Diana Rojas-Málaga, Celso Ferraz Viana, Fabiula Fagundes da Silva, Juliete Jorge Vidotti, Natalia Mariana Felicio, Leticia de Araújo Vitor, Karina Gimenez Cesar, Camila Araújo da Silva, Lucas Bassolli de Oliveira Alves, Álvaro Avezum
مصطلحات موضوعية: Medicine, Genetics, Biotechnology, Infectious Diseases, Virology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, whole exome sequencing, single nucleotide polymorphism, peripheral artery thrombotic, multiple logistic regression, effect alleles observed, acute myocardial infarction, atherosclerotic cardiovascular disease, genetic profile derived, population attributable risks, div >< p, likely pathogenic variants, polygenic risk score, snp ), number, 8 genes (<, nationwide genetic case, brazil p, polygenic nature, ci ), cardiovascular genes, genetic polymorphisms, genetic background, genetic analyses