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Molecular Genetics and Metabolism Reports|April 14, 2020
Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndromeShahram Yazdani, Anish Badjatiya, Naghmeh Dorrani, et al.
Human Mutation|August 10, 2004
IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1Yao-Hua Zhang, Bing-Ling Huang, Kathy K Niakan, et al.
Molecular Genetics and Metabolism|November 22, 2007
Global metabolic effects of glycerol kinase overexpression in rat hepatoma cellsGanesh Sriram, Lola Rahib, Jian-Sen He, et al.
Molecular Genetics and Metabolism|May 4, 2011
Glycerol homeostasis and metabolism in glycerol kinase carrier miceMotomichi Kosuga, Nicole K Henderson-MacLennan, Yao-Hua Zhang, et al.
Frontiers in Pediatrics|November 19, 2025
Case Report: An atypical case of ARPKD highlights the utility and challenges of implementing genetic testing in cystic kidney diseaseJonathan Marquez, Lauren M Hawkins, Anita E Beck, et al.
Molecular Genetics and Metabolism|June 24, 2009
Weighted gene co-expression network analysis identifies biomarkers in glycerol kinase deficient miceNicole K MacLennan, Jun Dong, Jason E Aten, et al.
Human Molecular Genetics|December 22, 2005
Targeted disruption of glycerol kinase gene in mice: expression analysis in liver shows alterations in network partners related to glycerol kinase activityNicole K MacLennan, Lola Rahib, Cynthia Shin, et al.
American Journal of Medical Genetics. Part A|July 12, 2019
Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndromeJennifer N Dines, Yajuan J Liu, Whitney Neufeld-Kaiser, et al.
HGG Advances|June 5, 2025
Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosisJoon-Ho Yu, Katherine E MacDuffie, Olivia Sommerland, et al.
The Journal of Pediatrics|June 25, 2025
Implementation of First-Line Rapid Genome Sequencing in Non-Critical Care Pediatric WardsAlexandra C Keefe, Abbey A Scott, Lukas Kruidenier, et al.
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