27 results on '"Bedoyan, Jirair K."'
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2. Kidney Replacement Therapy and Mortality in Children With Inborn Errors of Metabolism: A Meta-analysis
3. Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism.
4. Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism
5. Kidney Replacement Therapy and Mortality in Children With Inborn Errors of Metabolism: A Meta-analysis
6. Mitochondrial diseases in North America: An analysis of the NAMDC Registry
7. Novel SMC1A frameshift mutations in children with developmental delay and epilepsy
8. Age-related effect of serotonin transporter genotype on amygdala and prefrontal cortex function in adolescence
9. A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease
10. Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects
11. The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification
12. Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant
13. Early prediction of phenotypic severity in Citrullinemia Type 1
14. Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders
15. A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency
16. Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.
17. A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency.
18. Clinical and biochemical characterization of four patients with mutations in ECHS1
19. Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency
20. First case of deletion of the faciogenital dysplasia 1 ( FGD1) gene in a patient with Aarskog–Scott syndrome
21. The impact of serotonin transporter genotype on default network connectivity in children and adolescents with autism spectrum disorders
22. Age‐related effect of serotonin transporter genotype on amygdala and prefrontal cortex function in adolescence
23. Condensation of Rat Telomere-specific Nucleosomal Arrays Containing Unusually Short DNA Repeats and Histone H1
24. ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype
25. Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.
26. The impact of serotonin transporter genotype on default network connectivity in children and adolescents with autism spectrum disorders.
27. Microarray oligonucleotide probe designer (MOPeD): A web service.
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