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JMIR Research Protocols
|
August 8, 2013
Portal for Families Overcoming Neurodevelopmental Disorders (PFOND): Implementation of a Software Framework for Facilitated Community Website Creation by Nontechnical Volunteers
Xin Cynthia Ye, Isaiah Ng, Puya Seid-Karbasi, et al.
Human Molecular Genetics
|
March 9, 2016
DNA methylation profiling in human Huntington's disease brain
Rebecca A G De Souza, Sumaiya A Islam, Lisa M McEwen, et al.
BMC Bioinformatics
|
March 8, 2011
MIR@NT@N: a framework integrating transcription factors, microRNAs and their targets to identify sub-network motifs in a meta-regulation network model
Antony Le Béchec, Elodie Portales-Casamar, Guillaume Vetter, et al.
Neurogenetics
|
November 30, 2014
Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities
Ramona Salvarinova, Cynthia X Ye, Andrea Rossi, et al.
Child Neurology Open
|
May 16, 2017
Further Validation of the <i>SIGMAR1</i> c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy
Jessica J Y Lee, Clara D M van Karnebeek, Britt Drögemoller, et al.
Orphanet Journal of Rare Diseases
|
February 12, 2017
Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease
Maja Tarailo-Graovac, Britt I Drögemöller, Wyeth W Wasserman, et al.
Cold Spring Harbor Molecular Case Studies
|
January 5, 2017
Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo <i>OPA3</i> mutation
Stephanie C Bourne, Katelin N Townsend, Casper Shyr, et al.
Stem Cell Reports
|
February 21, 2023
In silico discovery of small molecules for efficient stem cell differentiation into definitive endoderm
Gherman Novakovsky, Shugo Sasaki, Oriol Fornes, et al.
Clinical Pharmacology and Therapeutics
|
December 1, 2025
Pathway-Informed Machine Learning Identifies Genetic Predictors of High-Dose Methotrexate-Induced Mucositis in Pediatric Acute Lymphoblastic Leukemia
Xiao Yu Cindy Zhang, Erika N Scott, Hedy Maagdenberg, et al.
Nucleic Acids Research
|
October 24, 2017
The SIN3A histone deacetylase complex is required for a complete transcriptional response to hypoxia
Maria Tiana, Barbara Acosta-Iborra, Laura Puente-Santamaría, et al.
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of 18
Search research articles
Search
Showing results (91-100 of 172) with videos related to
Sort By:
Page
of 18
JMIR Research Protocols
|
August 8, 2013
Portal for Families Overcoming Neurodevelopmental Disorders (PFOND): Implementation of a Software Framework for Facilitated Community Website Creation by Nontechnical Volunteers
Xin Cynthia Ye, Isaiah Ng, Puya Seid-Karbasi, et al.
Human Molecular Genetics
|
March 9, 2016
DNA methylation profiling in human Huntington's disease brain
Rebecca A G De Souza, Sumaiya A Islam, Lisa M McEwen, et al.
BMC Bioinformatics
|
March 8, 2011
MIR@NT@N: a framework integrating transcription factors, microRNAs and their targets to identify sub-network motifs in a meta-regulation network model
Antony Le Béchec, Elodie Portales-Casamar, Guillaume Vetter, et al.
Neurogenetics
|
November 30, 2014
Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities
Ramona Salvarinova, Cynthia X Ye, Andrea Rossi, et al.
Child Neurology Open
|
May 16, 2017
Further Validation of the <i>SIGMAR1</i> c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy
Jessica J Y Lee, Clara D M van Karnebeek, Britt Drögemoller, et al.
Orphanet Journal of Rare Diseases
|
February 12, 2017
Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease
Maja Tarailo-Graovac, Britt I Drögemöller, Wyeth W Wasserman, et al.
Cold Spring Harbor Molecular Case Studies
|
January 5, 2017
Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo <i>OPA3</i> mutation
Stephanie C Bourne, Katelin N Townsend, Casper Shyr, et al.
Stem Cell Reports
|
February 21, 2023
In silico discovery of small molecules for efficient stem cell differentiation into definitive endoderm
Gherman Novakovsky, Shugo Sasaki, Oriol Fornes, et al.
Clinical Pharmacology and Therapeutics
|
December 1, 2025
Pathway-Informed Machine Learning Identifies Genetic Predictors of High-Dose Methotrexate-Induced Mucositis in Pediatric Acute Lymphoblastic Leukemia
Xiao Yu Cindy Zhang, Erika N Scott, Hedy Maagdenberg, et al.
Nucleic Acids Research
|
October 24, 2017
The SIN3A histone deacetylase complex is required for a complete transcriptional response to hypoxia
Maria Tiana, Barbara Acosta-Iborra, Laura Puente-Santamaría, et al.
Page
of 18