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Cold Spring Harbor Molecular Case Studies
|
September 15, 2016
A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia
Abby M Moskowitz, Newell Belnap, Ashley L Siniard, et al.
American Journal of Medical Genetics. Part A
|
August 31, 2018
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype
Chris Balak, Newell Belnap, Keri Ramsey, et al.
Frontiers in Immunology
|
June 21, 2023
A review of the main genetic factors influencing the course of COVID-19 in Sardinia: the role of human leukocyte antigen-G
Stefano Mocci, Roberto Littera, Luchino Chessa, et al.
Epigenomics
|
October 3, 2017
Exploring genome-wide DNA methylation patterns in Aicardi syndrome
Ignazio S Piras, Gabrielle Mills, Lorida Llaci, et al.
Cell Death and Differentiation
|
December 13, 2018
The proneural gene ASCL1 governs the transcriptional subgroup affiliation in glioblastoma stem cells by directly repressing the mesenchymal gene NDRG1
Ashwin Narayanan, Filippo Gagliardi, Alberto L Gallotti, et al.
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
Transcriptomic and protein analysis of human cortex reveals genes and pathways linked to NPTX2 disruption in Alzheimer's disease
Yuelin Lao, Mei-Fang Xiao, Shiyu Ji, et al.
International Journal of Molecular Sciences
|
April 17, 2025
Characterization of Isolated Human Astrocytes from Aging Brain
Geidy E Serrano, Sidra Aslam, Jessica E Walker, et al.
American Journal of Medical Genetics. Part A
|
February 1, 2017
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus
P Dunn, G P Prigatano, S Szelinger, et al.
Cells
|
July 6, 2023
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders
Eric Frankel, Avijit Podder, Megan Sharifi, et al.
Frontiers in Immunology
|
October 31, 2022
The double-sided of human leukocyte antigen-G molecules in type 1 autoimmune hepatitis
Roberto Littera, Andrea Perra, Michela Miglianti, et al.
Page
of 11
Search research articles
Search
Showing results (91-100 of 104) with videos related to
Sort By:
Page
of 11
Cold Spring Harbor Molecular Case Studies
|
September 15, 2016
A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia
Abby M Moskowitz, Newell Belnap, Ashley L Siniard, et al.
American Journal of Medical Genetics. Part A
|
August 31, 2018
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype
Chris Balak, Newell Belnap, Keri Ramsey, et al.
Frontiers in Immunology
|
June 21, 2023
A review of the main genetic factors influencing the course of COVID-19 in Sardinia: the role of human leukocyte antigen-G
Stefano Mocci, Roberto Littera, Luchino Chessa, et al.
Epigenomics
|
October 3, 2017
Exploring genome-wide DNA methylation patterns in Aicardi syndrome
Ignazio S Piras, Gabrielle Mills, Lorida Llaci, et al.
Cell Death and Differentiation
|
December 13, 2018
The proneural gene ASCL1 governs the transcriptional subgroup affiliation in glioblastoma stem cells by directly repressing the mesenchymal gene NDRG1
Ashwin Narayanan, Filippo Gagliardi, Alberto L Gallotti, et al.
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
Transcriptomic and protein analysis of human cortex reveals genes and pathways linked to NPTX2 disruption in Alzheimer's disease
Yuelin Lao, Mei-Fang Xiao, Shiyu Ji, et al.
International Journal of Molecular Sciences
|
April 17, 2025
Characterization of Isolated Human Astrocytes from Aging Brain
Geidy E Serrano, Sidra Aslam, Jessica E Walker, et al.
American Journal of Medical Genetics. Part A
|
February 1, 2017
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus
P Dunn, G P Prigatano, S Szelinger, et al.
Cells
|
July 6, 2023
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders
Eric Frankel, Avijit Podder, Megan Sharifi, et al.
Frontiers in Immunology
|
October 31, 2022
The double-sided of human leukocyte antigen-G molecules in type 1 autoimmune hepatitis
Roberto Littera, Andrea Perra, Michela Miglianti, et al.
Page
of 11