Results 61 to 70 of about 1,806 (131)

Epileptic Encephalopathy Related to CAD Deleterious Variants-A Case Series. [PDF]

open access: yesDiseases
Glangher A   +8 more
europepmc   +1 more source

Trafficking of the telomerase RNA using a novel genetic approach. [PDF]

open access: yesPLoS One
Day JK   +8 more
europepmc   +1 more source

Broad Vitamin B<sub>6</sub>-Related Metabolic Disturbances in a Zebrafish Model of Hypophosphatasia (TNSALP-Deficiency). [PDF]

open access: yesInt J Mol Sci
Ciapaite J   +9 more
europepmc   +1 more source

The Strange Case of Orotic Acid: The Different Expression of Pyrimidines Biosynthesis in Healthy Males and Females. [PDF]

open access: yesJ Pers Med, 2023
Chiara F   +6 more
europepmc   +1 more source

Hereditary orotic aciduria identified by newborn screening. [PDF]

open access: yesFront Genet, 2023
Staretz-Chacham O   +23 more
europepmc   +1 more source

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