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Clinical Epigenetics|January 23, 2019
Aberrant methylation of Pax3 gene and neural tube defects in association with exposure to polycyclic aromatic hydrocarbonsShanshan Lin, Aiguo Ren, Linlin Wang, et al.Journal of Anatomy|November 28, 2015
Distinct expression patterns for type II topoisomerases IIA and IIB in the early foetal human telencephalonLauren F Harkin, Dianne Gerrelli, Diana C Gold Diaz, et al.The Journal of Clinical Investigation|December 4, 2019
Impaired folate 1-carbon metabolism causes formate-preventable hydrocephalus in glycine decarboxylase-deficient miceChloe Santos, Yun Jin Pai, M Raasib Mahmood, et al.Birth Defects Research|January 10, 2018
Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic developmentAnna C Thomas, Pauline Heux, Chloe Santos, et al.Molecular Genetics and Metabolism|May 18, 2024
AAV-mediated expression of mouse or human GLDC normalises metabolic biomarkers in a GLDC-deficient mouse model of Non-Ketotic HyperglycinemiaKit-Yi Leung, Chloe Santos, Sandra C P De Castro, et al.Elife|December 5, 2024
Spinal neural tube formation and tail development in human embryosChloe Santos, Abigail R Marshall, Ailish Murray, et al.Cell Reports|November 16, 2017
Partitioning of One-Carbon Units in Folate and Methionine Metabolism Is Essential for Neural Tube ClosureKit-Yi Leung, Yun Jin Pai, Qiuying Chen, et al.Journal of Inherited Metabolic Disease|August 4, 2020
Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non-ketotic hyperglycinemiaKit-Yi Leung, Sandra C P De Castro, Chloe Santos, et al.Human Molecular Genetics|June 26, 2023
A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephaloceleZoe Crane-Smith, Sandra C P De Castro, Evanthia Nikolopoulou, et al.Genome Research|June 21, 2017
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndromeGilad D Evrony, Dwight R Cordero, Jun Shen, et al.Pageof 1