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Genetic Testing and Molecular Biomarkers|September 1, 2009
Maple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunitTheodoros Georgiou, Jacinta L Chuang, R Max Wynn, et al.
Molecular Genetics & Genomic Medicine|January 17, 2020
A novel mutation deep within intron 7 of the GBA gene causes Gaucher diseaseAnna Malekkou, Ioanna Sevastou, Gavriella Mavrikiou, et al.
Clinical Biochemistry|June 29, 2014
Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutationsTheodoros Georgiou, Paola Nicolaidou, Anastasia Hadjichristou, et al.
Journal of Cell Science|February 1, 2017
Mouse Stbd1 is N-myristoylated and affects ER-mitochondria association and mitochondrial morphologyAnthi Demetriadou, Julia Morales-Sanfrutos, Marianna Nearchou, et al.
Genetic Testing|June 10, 2005
The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot villageTheodoros Georgiou, Goula Stylianidou, Violetta Anastasiadou, et al.
Hemoglobin|May 14, 2008
Hb Agrinio [alpha29(B10)Le-->uPro (alpha2)] in combination with --(MED I). Results in a severe form of Hb H diseaseXenia Felekis, Marios Phylactides, Anthi Drousiotou, et al.
The FEBS Journal|February 26, 2025
Stbd1 stimulates AMPK signaling and alleviates insulin resistance in an in vitro hepatocyte modelAndria Theodoulou, Thilo Speckmann, Louiza Potamiti, et al.
Clinical Biochemistry|February 15, 2012
The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screeningTheodoros Georgiou, Gladys Ho, Marios Vogazianos, et al.
BMC Medical Genomics|March 26, 2024
A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case reportAnna Malekkou, Marios Tomazou, Gavriella Mavrikiou, et al.
Biochimie|June 12, 2022
Stbd1-deficient mice display insulin resistance associated with enhanced hepatic ER-mitochondria contactStyliana Kyriakoudi, Andria Theodoulou, Louiza Potamiti, et al.
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