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Bioinformatics (Oxford, England)
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September 9, 2023
aenmd: annotating escape from nonsense-mediated decay for transcripts with protein-truncating variants
Jonathan Klonowski, Qianqian Liang, Zeynep Coban-Akdemir, et al.
Biorxiv : the Preprint Server for Biology
|
March 30, 2023
aenmd: Annotating escape from nonsense-mediated decay for transcripts with protein-truncating variants
Jonathan Klonowski, Qianqian Liang, Zeynep Coban-Akdemir, et al.
Biorxiv : the Preprint Server for Biology
|
January 9, 2026
Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay
Michael A Cortázar, Jacob Schmidt, Iman Egab, et al.
BMC Medical Genomics
|
August 7, 2024
Correction: Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders
Tugce Bozkurt-Yozgatli, Davut Pehlivan, Richard A Gibbs, et al.
BMC Medical Genomics
|
April 15, 2024
Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders
Tugce Bozkurt-Yozgatli, Davut Pehlivan, Richard A Gibbs, et al.
European Journal of Human Genetics : EJHG
|
February 28, 2025
Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets
Tugce Bozkurt-Yozgatli, Ming Yin Lun, Jesse D Bengtsson, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 22, 2024
Investigation of a Pathogenic Inversion in <i>UNC13D</i> and Comprehensive Analysis of Chromosomal Inversions Across Diverse Datasets
Tugce Bozkurt-Yozgatli, Ming Yin Lun, Jesse D Bengtsson, et al.
Molecular Genetics and Metabolism
|
September 26, 2018
Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis
Jaya Punetha, Loren Mackay-Loder, Tamar Harel, et al.
American Journal of Medical Genetics. Part A
|
April 8, 2015
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI
Yavuz Bayram, Hatip Aydin, Tomasz Gambin, et al.
Genome Research
|
June 17, 2018
Predicting human genes susceptible to genomic instability associated with <i>Alu</i>/<i>Alu</i>-mediated rearrangements
Xiaofei Song, Christine R Beck, Renqian Du, et al.
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Search research articles
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Showing results (1-10 of 97) with videos related to
Sort By:
Page
of 10
Bioinformatics (Oxford, England)
|
September 9, 2023
aenmd: annotating escape from nonsense-mediated decay for transcripts with protein-truncating variants
Jonathan Klonowski, Qianqian Liang, Zeynep Coban-Akdemir, et al.
Biorxiv : the Preprint Server for Biology
|
March 30, 2023
aenmd: Annotating escape from nonsense-mediated decay for transcripts with protein-truncating variants
Jonathan Klonowski, Qianqian Liang, Zeynep Coban-Akdemir, et al.
Biorxiv : the Preprint Server for Biology
|
January 9, 2026
Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay
Michael A Cortázar, Jacob Schmidt, Iman Egab, et al.
BMC Medical Genomics
|
August 7, 2024
Correction: Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders
Tugce Bozkurt-Yozgatli, Davut Pehlivan, Richard A Gibbs, et al.
BMC Medical Genomics
|
April 15, 2024
Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders
Tugce Bozkurt-Yozgatli, Davut Pehlivan, Richard A Gibbs, et al.
European Journal of Human Genetics : EJHG
|
February 28, 2025
Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets
Tugce Bozkurt-Yozgatli, Ming Yin Lun, Jesse D Bengtsson, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 22, 2024
Investigation of a Pathogenic Inversion in <i>UNC13D</i> and Comprehensive Analysis of Chromosomal Inversions Across Diverse Datasets
Tugce Bozkurt-Yozgatli, Ming Yin Lun, Jesse D Bengtsson, et al.
Molecular Genetics and Metabolism
|
September 26, 2018
Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis
Jaya Punetha, Loren Mackay-Loder, Tamar Harel, et al.
American Journal of Medical Genetics. Part A
|
April 8, 2015
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI
Yavuz Bayram, Hatip Aydin, Tomasz Gambin, et al.
Genome Research
|
June 17, 2018
Predicting human genes susceptible to genomic instability associated with <i>Alu</i>/<i>Alu</i>-mediated rearrangements
Xiaofei Song, Christine R Beck, Renqian Du, et al.
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