Found: 11
Select item for more details and to access through your institution.
Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 8, p. 2362, doi. 10.3390/jcm9082362
- By:
- Publication type:
- Article
Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 8, p. 1262, doi. 10.3390/jcm8081262
- By:
- Publication type:
- Article
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 10, p. 2750, doi. 10.3390/jcm11102750
- By:
- Publication type:
- Article
Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2459
- By:
- Publication type:
- Article
Limited dCTP Availability Accounts for Mitochondrial DNA Depletion in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE).
- Published in:
- PLoS Genetics, 2011, v. 7, n. 3, p. 1
- By:
- Publication type:
- Article
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1262, doi. 10.3390/genes12081262
- By:
- Publication type:
- Article
Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL.
- Published in:
- Genes, 2020, v. 11, n. 9, p. 1028, doi. 10.3390/genes11091028
- By:
- Publication type:
- Article
Alpha7 acetylcholine receptor autoantibodies are rare in sera of patients diagnosed with schizophrenia or bipolar disorder.
- Published in:
- PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0208412
- By:
- Publication type:
- Article
Most mitochondrial dGTP is tightly bound to respiratory complex I through the NDUFA10 subunit.
- Published in:
- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03568-6
- By:
- Publication type:
- Article
Clinical Utility of LCT Genotyping in Children with Suspected Functional Gastrointestinal Disorder.
- Published in:
- Nutrients, 2020, v. 12, n. 10, p. 3017, doi. 10.3390/nu12103017
- By:
- Publication type:
- Article