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Human Genetics|June 12, 2015
Mutation of ATF6 causes autosomal recessive achromatopsiaMuhammad Ansar, Regie Lyn P Santos-Cortez, Muhammad Arif Nadeem Saqib, et al.Human Mutation|May 21, 2019
Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assayDustin Shigaki, Orit Adato, Aashish N Adhikari, et al.Nature Medicine|March 2, 2016
Substantial interindividual and limited intraindividual genomic diversity among tumors from men with metastatic prostate cancerAkash Kumar, Ilsa Coleman, Colm Morrissey, et al.Human Genetics|March 30, 2016
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissueAnas M Alazami, Sarah M Al-Qattan, Eissa Faqeih, et al.Clinical Chemistry|January 3, 2025
SARS-CoV-2 Diversity and Transmission on a University Campus across Two Academic Years during the PandemicAmanda M Casto, Miguel I Paredes, Julia C Bennett, et al.Cell Genomics|May 24, 2024
Meningioma transcriptomic landscape demonstrates novel subtypes with regional associated biology and patient outcomeH Nayanga Thirimanne, Damian Almiron-Bonnin, Nicholas Nuechterlein, et al.Biorxiv : the Preprint Server for Biology|November 24, 2025
Single-cell, multi-region profiling of the macaque brain across the lifespanWei Yang, Kelsi L Watkins, Alex R DeCasien, et al.Nature Genetics|August 17, 2010
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndromeSarah B Ng, Abigail W Bigham, Kati J Buckingham, et al.American Journal of Human Genetics|December 25, 2012
Mutations in ECEL1 cause distal arthrogryposis type 5DMargaret J McMillin, Jennifer E Below, Kathryn M Shively, et al.American Journal of Human Genetics|December 25, 2012
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesiaMichael R Knowles, Margaret W Leigh, Lawrence E Ostrowski, et al.Pageof 43