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Journal of Inherited Metabolic Disease|December 2, 2025
Genetic Correction of the Most Common Mutation Causing Primary Hyperoxaluria Restores Enzyme Localization and Oxalate MetabolismTimo Keskinen, Sami Jalil, Irem Gümüşoğlu, et al.
Disease Models & Mechanisms|January 31, 2020
Characterization of the human GnRH neuron developmental transcriptome using a GNRH1-TdTomato reporter line in human pluripotent stem cellsCarina Lund, Venkatram Yellapragada, Sanna Vuoristo, et al.
Diabetes Care|November 12, 2009
Clinical heterogeneity in monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY)Antonio L Cuesta-Muñoz, Tiinamaija Tuomi, Nadia Cobo-Vuilleumier, et al.
Diabetes|August 2, 2013
A mouse model of human hyperinsulinism produced by the E1506K mutation in the sulphonylurea receptor SUR1Kenju Shimomura, Maija Tusa, Michaela Iberl, et al.
Developmental Cell|August 23, 2022
Pancreas agenesis mutations disrupt a lead enhancer controlling a developmental enhancer clusterIrene Miguel-Escalada, Miguel Ángel Maestro, Diego Balboa, et al.
Redox Biology|August 12, 2018
Redox regulation of GRPEL2 nucleotide exchange factor for mitochondrial HSP70 chaperoneSvetlana Konovalova, Xiaonan Liu, Pooja Manjunath, et al.
Diabetes|July 28, 2004
Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutationAntonio L Cuesta-Muñoz, Hanna Huopio, Timo Otonkoski, et al.
The Journal of Clinical Endocrinology and Metabolism|May 12, 2016
Clinical, Genetic, and Biochemical Characteristics of Early-Onset Diabetes in the Finnish PopulationHanna Huopio, Päivi J Miettinen, Jorma Ilonen, et al.
BMC Cell Biology|June 4, 2009
The N-glycome of human embryonic stem cellsTero Satomaa, Annamari Heiskanen, Milla Mikkola, et al.
Neurobiology of Disease|May 22, 2020
ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neuronsSandra Harjuhaahto, Tiina S Rasila, Svetlana M Molchanova, et al.
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