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Nature Communications
|
May 26, 2026
Paired DNA and RNA sequencing uncovers common and rare variation regulating human retinal gene expression
Jacob Sampson, Ayellet V Segrè, Kinga M Bujakowska, et al.
The Journal of Infectious Diseases
|
October 26, 2014
Human papillomavirus virus (HPV) genotype- and age-specific analyses of external genital lesions among men in the HPV Infection in Men (HIM) Study
Donna J Ingles, Christine M Pierce Campbell, Jane A Messina, et al.
Nature Genetics
|
June 24, 2025
Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes
Adam Jackson, Nishi Thaker, Alexander Blakes, et al.
Nature Genetics
|
May 29, 2025
Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes
Adam Jackson, Nishi Thaker, Alexander Blakes, et al.
Science Advances
|
May 18, 2022
A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations
Ranjay Jayadev, Mychel R P T Morais, Jamie M Ellingford, et al.
Scientific Reports
|
October 19, 2021
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
Charlie Rowlands, Huw B Thomas, Jenny Lord, et al.
Genome Medicine
|
January 6, 2024
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease
Alfredo Dueñas Rey, Marta Del Pozo Valero, Manon Bouckaert, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 17, 2024
Biallelic variants in <i>MRPL49</i> cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
Huw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, et al.
American Journal of Human Genetics
|
July 2, 2026
Bi-allelic missense variants in human GPN2 result in Perrault syndrome
Thomas B Smith, Rabia Faridi, Leigh A M Demain, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 7, 2024
Biallelic variants in <i>DAP3</i> result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype
Thomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
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Showing results (71-80 of 92) with videos related to
Sort By:
Page
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Nature Communications
|
May 26, 2026
Paired DNA and RNA sequencing uncovers common and rare variation regulating human retinal gene expression
Jacob Sampson, Ayellet V Segrè, Kinga M Bujakowska, et al.
The Journal of Infectious Diseases
|
October 26, 2014
Human papillomavirus virus (HPV) genotype- and age-specific analyses of external genital lesions among men in the HPV Infection in Men (HIM) Study
Donna J Ingles, Christine M Pierce Campbell, Jane A Messina, et al.
Nature Genetics
|
June 24, 2025
Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes
Adam Jackson, Nishi Thaker, Alexander Blakes, et al.
Nature Genetics
|
May 29, 2025
Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes
Adam Jackson, Nishi Thaker, Alexander Blakes, et al.
Science Advances
|
May 18, 2022
A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations
Ranjay Jayadev, Mychel R P T Morais, Jamie M Ellingford, et al.
Scientific Reports
|
October 19, 2021
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
Charlie Rowlands, Huw B Thomas, Jenny Lord, et al.
Genome Medicine
|
January 6, 2024
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease
Alfredo Dueñas Rey, Marta Del Pozo Valero, Manon Bouckaert, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 17, 2024
Biallelic variants in <i>MRPL49</i> cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
Huw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, et al.
American Journal of Human Genetics
|
July 2, 2026
Bi-allelic missense variants in human GPN2 result in Perrault syndrome
Thomas B Smith, Rabia Faridi, Leigh A M Demain, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 7, 2024
Biallelic variants in <i>DAP3</i> result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype
Thomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
Page
of 10