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Cytogenetic and Genome Research|October 5, 2018
Partial 5p Deletion and Partial 5q Duplication in a Patient with Multiple Congenital Anomalies: A Two-Step Mechanism in Chromosomal Rearrangement Mediated by Non-Allelic Homologous RecombinationZhishuo Z Ou, Sally Kochmar, Svetlana A Yatsenko, et al.Neuromuscular Disorders : NMD|January 8, 2011
Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathyHouman Homayoun, Simin Khavandgar, Jacqueline M Hoover, et al.Journal of Immunology (Baltimore, Md. : 1950)|March 7, 2007
Enhanced defense against Pneumocystis carinii mediated by a novel dectin-1 receptor Fc fusion proteinRekha R Rapaka, Eric S Goetzman, Mingquan Zheng, et al.Analytical Biochemistry|June 14, 2019
An acyl-CoA dehydrogenase microplate activity assay using recombinant porcine electron transfer flavoproteinYuxun Zhang, Al-Walid Mohsen, Catherine Kochersperger, et al.Molecular Genetics and Metabolism|June 20, 2007
Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemiaYong-Wha Lee, Dong Hwan Lee, Jerry Vockley, et al.Clinical Genetics|August 11, 2025
RePOWER: An International, Prospective, Non-Interventional Registry of Patients With Primary Mitochondrial MyopathyAmel Karaa, Amy Goldstein, Bruce H Cohen, et al.Pediatric Transplantation|August 27, 2021
Domino transplantation for pediatric liver recipients: Obstacles, challenges, and successesVikram K Raghu, Peter D Carr-Boyd, James E Squires, et al.Molecular Genetics and Metabolism|September 3, 2023
Heptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiencyAnuradha Karunanidhi, Shakuntala Basu, Xue-Jun Zhao, et al.Molecular Genetics and Metabolism|May 21, 2024
A multiomics approach reveals evidence for phenylbutyrate as a potential treatment for combined D,L-2- hydroxyglutaric aciduriaYu Leng Phua, Olivia M D'Annibale, Anuradha Karunanidhi, et al.Biorxiv : the Preprint Server for Biology|February 13, 2023
A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatmentYu Leng Phua, Olivia M D'Annibale, Anuradha Karunanidhi, et al.Pageof 28