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Journal of Medical Genetics|November 28, 2018
Biallelic disruption of <i>PKDCC</i> is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic featuresSamin A Sajan, Jaya Ganesh, Deepali N Shinde, et al.Journal of Child Neurology|May 29, 2012
A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndromeValentina Emmanuele, Evangelia Sotiriou, Purificación Gutierrez Rios, et al.International Journal of Biological Macromolecules|December 8, 2022
Chitosan functionalized bismuth oxychloride/zinc oxide nanocomposite for enhanced photocatalytic degradation of Congo redRajamani Ranjithkumar, Chi Van Nguyen, Ling Shing Wong, et al.Microorganisms|October 23, 2019
Insights into the Bacterial Profiles and Resistome Structures Following the Severe 2018 Flood in Kerala, South IndiaSoumya Jaya Divakaran, Jamiema Sara Philip, Padma Chereddy, et al.Molecular Genetics and Metabolism|May 14, 2010
Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiencyCurtis R Coughlin, Ian D Krantz, Eric S Schmitt, et al.Molecular Genetics and Metabolism Reports|April 16, 2025
Benefits of early intervention with olipudase alfa in symptomatic children with acid sphingomyelinase deficiency: A sibling case-comparison studyDrew B Sinha, William L Simpson, Andrew Ting, et al.Molecular Genetics and Metabolism|November 8, 2025
Correlation of Plasma Lyso-GL1 Levels with Clinical Phenotype and Treatment Decisions in Patients with Gaucher DiseaseChloe Cheung, Luca Fierro, Catherine McDonough, et al.Journal of Medical Genetics|August 5, 2011
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single probandDavid Watkins, Jeremy A Schwartzentruber, Jaya Ganesh, et al.Plos One|August 21, 2024
Relevance of Mediterranean diet as a nutritional strategy in diminishing COVID-19 risk: A systematic reviewCeria Halim, Miranda Howen, Athirah Amirah Nabilah Binti Fitrisubroto, et al.Archives of Neurology|March 12, 2008
The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 casesSara Shanske, Jorida Coku, Jiesheng Lu, et al.Pageof 6