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Nature
|
September 14, 2018
Accurate classification of BRCA1 variants with saturation genome editing
Gregory M Findlay, Riza M Daza, Beth Martin, et al.
Plos Genetics
|
October 24, 2014
Systematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation
Ramon Y Birnbaum, Rupali P Patwardhan, Mee J Kim, et al.
Nature Communications
|
August 8, 2023
spinDrop: a droplet microfluidic platform to maximise single-cell sequencing information content
Joachim De Jonghe, Tomasz S Kaminski, David B Morse, et al.
Plos One
|
September 6, 2014
Genome sequencing of idiopathic pulmonary fibrosis in conjunction with a medical school human anatomy course
Akash Kumar, Max Dougherty, Gregory M Findlay, et al.
Nature Genetics
|
July 5, 2024
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles
Megan Buckley, Chloé Terwagne, Athina Ganner, et al.
American Journal of Human Genetics
|
June 6, 2025
Validating data from multiplex assays of variant effect: A CanVIG-UK national survey of NHS clinical scientists
Sophie Allen, Alice Garrett, Charlie F Rowlands, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 29, 2025
Saturation genome editing of <i>RNU4-2</i> reveals distinct dominant and recessive neurodevelopmental disorders
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, et al.
Nature
|
April 8, 2026
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, et al.
Nature Genetics
|
May 18, 2026
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Rocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
Nature Genetics
|
April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Rocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
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Showing results (11-20 of 20) with videos related to
Sort By:
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This site can display upto 20 results.
Nature
|
September 14, 2018
Accurate classification of BRCA1 variants with saturation genome editing
Gregory M Findlay, Riza M Daza, Beth Martin, et al.
Plos Genetics
|
October 24, 2014
Systematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation
Ramon Y Birnbaum, Rupali P Patwardhan, Mee J Kim, et al.
Nature Communications
|
August 8, 2023
spinDrop: a droplet microfluidic platform to maximise single-cell sequencing information content
Joachim De Jonghe, Tomasz S Kaminski, David B Morse, et al.
Plos One
|
September 6, 2014
Genome sequencing of idiopathic pulmonary fibrosis in conjunction with a medical school human anatomy course
Akash Kumar, Max Dougherty, Gregory M Findlay, et al.
Nature Genetics
|
July 5, 2024
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles
Megan Buckley, Chloé Terwagne, Athina Ganner, et al.
American Journal of Human Genetics
|
June 6, 2025
Validating data from multiplex assays of variant effect: A CanVIG-UK national survey of NHS clinical scientists
Sophie Allen, Alice Garrett, Charlie F Rowlands, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 29, 2025
Saturation genome editing of <i>RNU4-2</i> reveals distinct dominant and recessive neurodevelopmental disorders
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, et al.
Nature
|
April 8, 2026
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, et al.
Nature Genetics
|
May 18, 2026
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Rocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
Nature Genetics
|
April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Rocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
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