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Mitochondrion|April 23, 2019
A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescentYulia Itkis, Tatiana Krylova, Natalia L Pechatnikova, et al.
Journal of Lipid Research|July 9, 2026
B4GALT5 deficiency impairs glycosphingolipid biosynthesis: a new Congenital Disorder of Glycosylation?Linda Montavoci, Michele Dei Cas, Anna Caretti, et al.
American Journal of Medical Genetics. Part A|February 9, 2022
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literatureJames Taylor, Michael Spiller, Kara Ranguin, et al.
Chemmedchem|September 16, 2022
Identification of 2,4-Dinitro-Biphenyl-Based Compounds as MAPEG InhibitorsSimone Di Micco, Stefania Terracciano, Martina Pierri, et al.
European Journal of Human Genetics : EJHG|June 11, 2015
Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disordersChing Moey, Susan J Hinze, Louise Brueton, et al.
La Clinica Terapeutica|August 29, 2018
Awareness of the offense and perception of the victim among juvenile sex offendersI Grattagliano, F Craig, A Lisi, et al.
European Journal of Medical Genetics|April 3, 2022
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variantMargherita Lucia De Bernardi, Agnese Di Stazio, Alfonso Romano, et al.
Molecular Genetics and Metabolism|September 15, 2011
A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): a clinical, molecular, and functional studyGiuseppe Fiermonte, Giovanni Parisi, Diego Martinelli, et al.
Bioorganic & Medicinal Chemistry Letters|August 8, 2017
Nitro-substituted tetrahydroindolizines and homologs: Design, kinetics, and mechanism of α-glucosidase inhibitionCinzia Tavani, Lara Bianchi, Annalisa De Palma, et al.
Ophthalmic Genetics|July 14, 2017
Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndromeFrancesco Testa, Paolo Melillo, Settimio Rossi, et al.
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