Cristina Skrypnyk
Manama, Bahrain
Last Updated: 09/26/2026
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Found 11 publications
From genes to generations: genetic evaluation and counseling for infertility and pregnancy loss.
Journal: Frontiers in genetics
Published: December 10, 2025
Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.
Journal: BMC pregnancy and childbirth
Published: July 18, 2024
Molecular autopsy by proxy: relevance for genetic counseling in rare genetic disorders.
Journal: Frontiers in genetics
Published: March 13, 2024
Fulminant Neonatal Liver Failure in MPV 17-Related Mitochondrial DNA Depletion Syndrome.
Journal: Case reports in hepatology
Published: December 29, 2022
Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy.
Journal: Frontiers in genetics
Published: November 14, 2022
A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases.
Journal: Clinical genetics
Published: December 10, 2020
Current management of Duchenne muscular dystrophy in the Middle East: expert report.
Journal: Neurodegenerative disease management
Published: June 06, 2019
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
Journal: American journal of human genetics
Published: March 29, 2019
Decreased expression of circulating microRNA-126 in patients with type 2 diabetic nephropathy: A potential blood-based biomarker.
Journal: Experimental and therapeutic medicine
Published: December 27, 2015
Time-course effect of high-glucose-induced reactive oxygen species on mitochondrial biogenesis and function in human renal mesangial cells.
Journal: Cell biology international
Published: May 04, 2015
Showing 1-11 of 11
Last Updated: 09/26/2026