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Nature Genetics
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October 2, 2019
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
Pierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, et al.
Nature Genetics
|
October 16, 2019
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
Pierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, et al.
Nature Genetics
|
February 9, 2020
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
Pierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, et al.
Nature Communications
|
January 20, 2021
A spatially resolved brain region- and cell type-specific isoform atlas of the postnatal mouse brain
Anoushka Joglekar, Andrey Prjibelski, Ahmed Mahfouz, et al.
Nature Biotechnology
|
March 8, 2022
Single-nuclei isoform RNA sequencing unlocks barcoded exon connectivity in frozen brain tissue
Simon A Hardwick, Wen Hu, Anoushka Joglekar, et al.
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.
Arthritis Care & Research
|
December 15, 2025
Cognitive Behavioral Therapy for Youth with Childhood-Onset Lupus: A Randomized Clinical Trial
Natoshia R Cunningham, Thea Senger-Carpenter, Jocelyn Zuckerman, 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.
Page
of 15
Search research articles
Search
Showing results (131-140 of 141) with videos related to
Sort By:
Page
of 15
Nature Genetics
|
October 2, 2019
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
Pierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, et al.
Nature Genetics
|
October 16, 2019
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
Pierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, et al.
Nature Genetics
|
February 9, 2020
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
Pierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, et al.
Nature Communications
|
January 20, 2021
A spatially resolved brain region- and cell type-specific isoform atlas of the postnatal mouse brain
Anoushka Joglekar, Andrey Prjibelski, Ahmed Mahfouz, et al.
Nature Biotechnology
|
March 8, 2022
Single-nuclei isoform RNA sequencing unlocks barcoded exon connectivity in frozen brain tissue
Simon A Hardwick, Wen Hu, Anoushka Joglekar, et al.
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.
Arthritis Care & Research
|
December 15, 2025
Cognitive Behavioral Therapy for Youth with Childhood-Onset Lupus: A Randomized Clinical Trial
Natoshia R Cunningham, Thea Senger-Carpenter, Jocelyn Zuckerman, 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.
Page
of 15