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Human Genomics|August 31, 2025
Machine learning-based transcriptomic analysis identifies candidate genes in sepsis-induced coagulopathy and explores the immunomodulatory potential of baicaleinLifang Mu, Yuxue Zhang, Tingting Yuan, et al.Human Genomics|August 31, 2025
RENOVO-NF1 accurately predicts NF1 missense variant pathogenicityEmanuele Bonetti, Serena Pellegatta, Nayma Rosati, et al.Human Genomics|June 18, 2015
Success stories in genomic medicine from resource-limited countriesKonstantinos Mitropoulos, Hayat Al Jaibeji, Diego A Forero, et al.Human Genomics|July 28, 2016
The up-regulation of Myb may help mediate EGCG inhibition effect on mouse lung adenocarcinomaHong Zhou, Joseph Manthey, Ekaterina Lioutikova, et al.Human Genomics|July 17, 2016
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigreePeriklis Makrythanasis, Michel Guipponi, Federico A Santoni, et al.Human Genomics|July 20, 2006
Stepwise haplotype analysis: are LD patterns repeatable?A P Mander, A BansalHuman Genomics|July 20, 2006
Strategies for the detection of copy number and other structural variants in the human genomeAndrew R Carson, Lars Feuk, Mansoor Mohammed, et al.Human Genomics|July 12, 2005
Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variationMark D Shriver, Rui Mei, Esteban J Parra, et al.Human Genomics|May 24, 2017
A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasetsTeresa Requena, Alvaro Gallego-Martinez, Jose A Lopez-EscamezPageof 112