14 results on '"Bedoyan, Jirair K."'
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2. Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability
3. Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex ( PDC ) deficiency: Impact on PDC‐E1 structure and function
4. Enantiomer‐specific pharmacokinetics of D,L‐3‐hydroxybutyrate: Implications for the treatment of multiple acyl‐CoA dehydrogenase deficiency
5. 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
6. A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency
7. NovelDICER1mutation as cause of multinodular goiter in children
8. Age‐related effect of serotonin transporter genotype on amygdala and prefrontal cortex function in adolescence
9. A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia
10. Duplication 16p11.2 in a child with infantile seizure disorder
11. Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication ofSIX1,SIX6, andOTX2resulting from a complex chromosomal rearrangement
12. Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotype
13. Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency.
14. Age-related effect of serotonin transporter genotype on amygdala and prefrontal cortex function in adolescence.
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