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Showing results (71-80 of 86) with videos related to
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Human Mutation
|
August 10, 2019
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss
Anna Morgan, Daniel C Koboldt, Elizabeth S Barrie, et al.
Frontiers in Genetics
|
January 10, 2019
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations
Anna Morgan, Stefania Lenarduzzi, Stefania Cappellani, et al.
Cell Reports
|
December 20, 2018
A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways
Thomas Agnew, Michelle Goldsworthy, Carlos Aguilar, et al.
Research Square
|
December 1, 2022
Patient and clinician perspectives of a remote monitoring program for COVID-19 and lessons for future programs
Krisda Chaiyachati, Judy Shea, Michaela Ward, et al.
Human Molecular Genetics
|
July 19, 2015
Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss
Dragana Vuckovic, Sally Dawson, Deborah I Scheffer, et al.
Human Molecular Genetics
|
June 1, 2021
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss
Sissy Bassani, Edward van Beelen, Mireille Rossel, et al.
HGG Advances
|
February 14, 2023
Whole genome sequencing for <i>USH2A</i>-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
Janine Reurink, Nicole Weisschuh, Alejandro Garanto, et al.
Nature Human Behaviour
|
March 2, 2023
Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus
Iain Mathieson, Felix R Day, Nicola Barban, et al.
Hypertension (Dallas, Tex. : 1979)
|
July 26, 2017
Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney
Louise V Wain, Ahmad Vaez, Rick Jansen, et al.
Nature Genetics
|
February 20, 2019
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution
Anne E Justice, Tugce Karaderi, Heather M Highland, et al.
Page
of 9
Search research articles
Search
Showing results (71-80 of 86) with videos related to
Sort By:
Page
of 9
Human Mutation
|
August 10, 2019
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss
Anna Morgan, Daniel C Koboldt, Elizabeth S Barrie, et al.
Frontiers in Genetics
|
January 10, 2019
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations
Anna Morgan, Stefania Lenarduzzi, Stefania Cappellani, et al.
Cell Reports
|
December 20, 2018
A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways
Thomas Agnew, Michelle Goldsworthy, Carlos Aguilar, et al.
Research Square
|
December 1, 2022
Patient and clinician perspectives of a remote monitoring program for COVID-19 and lessons for future programs
Krisda Chaiyachati, Judy Shea, Michaela Ward, et al.
Human Molecular Genetics
|
July 19, 2015
Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss
Dragana Vuckovic, Sally Dawson, Deborah I Scheffer, et al.
Human Molecular Genetics
|
June 1, 2021
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss
Sissy Bassani, Edward van Beelen, Mireille Rossel, et al.
HGG Advances
|
February 14, 2023
Whole genome sequencing for <i>USH2A</i>-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
Janine Reurink, Nicole Weisschuh, Alejandro Garanto, et al.
Nature Human Behaviour
|
March 2, 2023
Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus
Iain Mathieson, Felix R Day, Nicola Barban, et al.
Hypertension (Dallas, Tex. : 1979)
|
July 26, 2017
Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney
Louise V Wain, Ahmad Vaez, Rick Jansen, et al.
Nature Genetics
|
February 20, 2019
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution
Anne E Justice, Tugce Karaderi, Heather M Highland, et al.
Page
of 9