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Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 22, p. 8578, doi. 10.3390/ijms21228578
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- Article
Human LINE-1 restriction by APOBEC3C is deaminase independent and mediated by an ORF1p interaction that affects LINE reverse transcriptase activity.
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- Nucleic Acids Research, 2014, v. 42, n. 1, p. 396, doi. 10.1093/nar/gkt898
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- Article
The non-autonomous retrotransposon SVA is trans-mobilized by the human LINE-1 protein machinery.
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- Nucleic Acids Research, 2012, v. 40, n. 4, p. 1666, doi. 10.1093/nar/gkr863
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- Article
The hemoglobin genes of Drosophila.
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- FEBS Journal, 2006, v. 273, n. 3, p. 468, doi. 10.1111/j.1742-4658.2005.05073.x
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- Article
CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model.
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- Scientific Reports, 2016, p. 35794, doi. 10.1038/srep35794
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- Article
A large and diverse brain organoid dataset of 1,400 cross-laboratory images of 64 trackable brain organoids.
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- Scientific Data, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41597-024-03330-z
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- Article
Author Correction: Reprogramming triggers endogenous L1 and Alu retrotransposition in human induced pluripotent stem cells.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07917-0
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- Article
Reprogramming triggers endogenous L1 and Alu retrotransposition in human induced pluripotent stem cells.
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- Nature Communications, 2016, v. 7, n. 1, p. 10286, doi. 10.1038/ncomms10286
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- Article
The Flow of the Gibbon LAVA Element Is Facilitated by the LINE-1 Retrotransposition Machinery.
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- Genome Biology & Evolution, 2016, v. 8, n. 10, p. 3209, doi. 10.1093/gbe/evw224
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- Article
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
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- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 447, doi. 10.1002/jimd.12723
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- Article
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1.
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- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 517, doi. 10.1002/jimd.12690
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- Article
Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolism.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1103, doi. 10.1007/s10545-018-0225-9
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- Article
Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolism.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1103, doi. 10.1007/s10545-018-0225-9
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- Article
Succinic Semialdehyde Dehydrogenase Deficiency: An Update.
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- Cells (2073-4409), 2020, v. 9, n. 2, p. 477, doi. 10.3390/cells9020477
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- Article
Analysis of Catecholamines and Pterins in Inborn Errors of Monoamine Neurotransmitter Metabolism—From Past to Future.
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- Cells (2073-4409), 2019, v. 8, n. 8, p. 867, doi. 10.3390/cells8080867
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- Article
Characterization of two globin genes from the malaria mosquito Anopheles gambiae: Divergent origin of nematoceran haemoglobins.
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- Insect Molecular Biology, 2007, v. 16, n. 2, p. 133, doi. 10.1111/j.1365-2583.2006.00706.x
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- Article
An AI-based segmentation and analysis pipeline for high-field MR monitoring of cerebral organoids.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-48343-7
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- Article