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Human Genomics|March 14, 2026
Resolving non‑coding splice‑altering variants using an integrative genomic and transcriptomic workflow: application to FOXP1Pauline Planté-Bordeneuve, Anne-Sophie Jourdain, Caroline Thuillier, et al.Human Genomics|June 11, 2026
An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosisAngelika Bolte, Clara Velmans, Christian Netzer, et al.Human Genomics|June 11, 2026
Clinical and functional characterization of a novel homozygous non-canonical splice mutation (c.1910-15_1910-11delinsTTACA) in CEP290 causing Joubert syndromeValeriia A Kovalskaia, Dmitriy N Maslennikov, Ksenia A Svirepova, et al.Human Genomics|June 12, 2026
Screening of autoinflammatory genes in patients with SARS-CoV-2-associated MIS-CRaquel Bispo São Pedro, Sâmek D Novaes, Thaís M M Barreto, et al.Human Genomics|May 27, 2026
Lens tissue transcriptome analysis in patients with total congenital cataractXiaolei Lin, Huiyu Chen, Xin Liu, et al.Human Genomics|June 5, 2026
Deciphering the role of cell-free extrachromosomal circular DNA in human heart failureZhenhao Lin, Enyong Su, Junfeng Zhang, et al.Human Genomics|July 25, 2023
CVD-associated SNPs with regulatory potential reveal novel non-coding disease genesChaonan Zhu, Nina Baumgarten, Meiqian Wu, et al.Human Genomics|July 17, 2023
Whole-genome sequencing and functional annotation of pathogenic Paraconiothyrium brasiliense causing human cellulitisHaibing Liu, Yue Zhang, Jianguo ChenHuman Genomics|July 28, 2023
Mitochondrial genome study in blood of maternally inherited ALS casesSarah J Brockmann, Eva Buck, Tiziana Casoli, et al.Human Genomics|July 24, 2023
COVID-19 annual update: a narrative reviewMichela Biancolella, Vito Luigi Colona, Lucio Luzzatto, et al.Pageof 111