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Cell Reports
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September 6, 2025
A single-cell, long-read, isoform-resolved case-control study of FTD reveals cell-type-specific and broad splicing dysregulation in human brain
Natan Belchikov, Wen Hu, Li Fan, et al.
Nature Genetics
|
April 8, 2014
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Ghayda Mirzaa, David A Parry, Andrew E Fry, et al.
Nature Genetics
|
February 28, 2012
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
Jean-Baptiste Rivière, Bregje W M van Bon, Alexander Hoischen, et al.
Human Mutation
|
March 1, 2019
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals
Bobby G Ng, Paulina Sosicka, Satish Agadi, et al.
Nature Genetics
|
July 14, 2022
Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries
A Rouf Banday, Megan L Stanifer, Oscar Florez-Vargas, et al.
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of 8
Search research articles
Search
Showing results (71-80 of 75) with videos related to
Sort By:
Page
of 8
You have reached the last page of results.
This site can display upto 75 results.
Cell Reports
|
September 6, 2025
A single-cell, long-read, isoform-resolved case-control study of FTD reveals cell-type-specific and broad splicing dysregulation in human brain
Natan Belchikov, Wen Hu, Li Fan, et al.
Nature Genetics
|
April 8, 2014
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Ghayda Mirzaa, David A Parry, Andrew E Fry, et al.
Nature Genetics
|
February 28, 2012
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
Jean-Baptiste Rivière, Bregje W M van Bon, Alexander Hoischen, et al.
Human Mutation
|
March 1, 2019
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals
Bobby G Ng, Paulina Sosicka, Satish Agadi, et al.
Nature Genetics
|
July 14, 2022
Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries
A Rouf Banday, Megan L Stanifer, Oscar Florez-Vargas, et al.
Page
of 8