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Nucleic Acids Research|December 17, 2016
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohortTomasz Gambin, Zeynep C Akdemir, Bo Yuan, et al.
Biorxiv : the Preprint Server for Biology|November 24, 2025
CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signalingMariana Moyses-Oliveira, Yating Liu, Serkan Erdin, et al.
HGG Advances|July 11, 2026
CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signalingMariana Moyses-Oliveira, Yating Liu, Serkan Erdin, et al.
American Journal of Human Genetics|October 25, 2022
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal modelsKiana Mohajeri, Rachita Yadav, Eva D'haene, et al.
Human Molecular Genetics|August 2, 2014
Analysis of the ABCA4 genomic locus in Stargardt diseaseJana Zernant, Yajing Angela Xie, Carmen Ayuso, et al.
American Journal of Human Genetics|November 9, 2024
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assemblyYulia Mostovoy, Philip M Boone, Yongqing Huang, et al.
Arxiv|January 30, 2023
Beyond the exome: what's next in diagnostic testing for Mendelian conditionsMonica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.
American Journal of Human Genetics|August 4, 2023
Beyond the exome: What's next in diagnostic testing for Mendelian conditionsMonica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.
American Journal of Human Genetics|July 29, 2014
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV allelesPhilip M Boone, Bo Yuan, Ian M Campbell, et al.
European Journal of Human Genetics : EJHG|May 24, 2012
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletionsChristian P Schaaf, Philip M Boone, Srirangan Sampath, et al.
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