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Brain : a Journal of Neurology
|
May 12, 2024
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders
James Liu, Yi He, Cara Lwin, et al.
Science (New York, N.Y.)
|
May 25, 2019
Germline selection shapes human mitochondrial DNA diversity
Wei Wei, Salih Tuna, Michael J Keogh, et al.
American Journal of Human Genetics
|
August 27, 2024
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
Samantha Malka, Pooja Biswas, Anne-Marie Berry, et al.
Nature Machine Intelligence
|
June 26, 2025
Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene
Nikolas Pontikos, William A Woof, Siying Lin, et al.
American Journal of Epidemiology
|
April 19, 2011
Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people
Gareth J McKay, Giuliana Silvestri, Usha Chakravarthy, et al.
American Journal of Human Genetics
|
March 14, 2017
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies
Mingchu Xu, Yajing Angela Xie, Hana Abouzeid, et al.
NPJ Genomic Medicine
|
April 17, 2025
Variants in CFAP410 cause a range of retinal and skeletal phenotypes
Ryan E Schmidt, Amy E Pohodich, David Birch, et al.
Human Mutation
|
September 2, 2011
Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies
Gareth J McKay, Chris C Patterson, Usha Chakravarthy, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 6, 2026
Biallelic germline variants in the hematologic malignancy predisposition gene <i>DDX41</i> cause retinal dystrophy through dysregulation of retinal homeostasis
Zoéline Mars, Andrea Zanetti, Karolina Kaminska, et al.
International Journal of Epidemiology
|
January 19, 2012
Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype
Reecha Sofat, Juan P Casas, Andrew R Webster, et al.
Page
of 34
Search research articles
Search
Showing results (321-330 of 339) with videos related to
Sort By:
Page
of 34
Brain : a Journal of Neurology
|
May 12, 2024
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders
James Liu, Yi He, Cara Lwin, et al.
Science (New York, N.Y.)
|
May 25, 2019
Germline selection shapes human mitochondrial DNA diversity
Wei Wei, Salih Tuna, Michael J Keogh, et al.
American Journal of Human Genetics
|
August 27, 2024
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
Samantha Malka, Pooja Biswas, Anne-Marie Berry, et al.
Nature Machine Intelligence
|
June 26, 2025
Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene
Nikolas Pontikos, William A Woof, Siying Lin, et al.
American Journal of Epidemiology
|
April 19, 2011
Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people
Gareth J McKay, Giuliana Silvestri, Usha Chakravarthy, et al.
American Journal of Human Genetics
|
March 14, 2017
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies
Mingchu Xu, Yajing Angela Xie, Hana Abouzeid, et al.
NPJ Genomic Medicine
|
April 17, 2025
Variants in CFAP410 cause a range of retinal and skeletal phenotypes
Ryan E Schmidt, Amy E Pohodich, David Birch, et al.
Human Mutation
|
September 2, 2011
Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies
Gareth J McKay, Chris C Patterson, Usha Chakravarthy, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 6, 2026
Biallelic germline variants in the hematologic malignancy predisposition gene <i>DDX41</i> cause retinal dystrophy through dysregulation of retinal homeostasis
Zoéline Mars, Andrea Zanetti, Karolina Kaminska, et al.
International Journal of Epidemiology
|
January 19, 2012
Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype
Reecha Sofat, Juan P Casas, Andrew R Webster, et al.
Page
of 34