2 results match your criteria: "Obstetric and Gynecological Clinic Narodni Front[Affiliation]"
Children (Basel)
November 2022
Obstetric and Gynecological Clinic Narodni Front, 11000 Belgrade, Serbia.
Background: is known as the microcephalin gene (OMIM: *607117), of which the encoding protein is a basic regulator of chromosome condensation (BCRT-BRCA1 C-terminus). The microcephalin protein is made up of three BCRT domains and conserved tandem repeats of interacting phospho-peptides. There is a strong connection between mutations of the gene and reduced brain growth.
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June 2020
2nd Department of Obstetrics and Gynecology, Aretaieio Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Mutations in the skeletal muscle ryanodine receptor () gene have been linked to malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. is an intracellular calcium release channel and plays a crucial role in the sarcoplasmic reticulum and transverse tubule connection. Here, we report 2 fetuses from the same parents with compound heterozygous mutations in the gene (c.
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