Cristina Skrypnyk
Arabian Gulf University(BH)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Asthma and respiratory diseases, Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases
Most-Cited Works
- → Exome Sequencing and the Management of Neurometabolic Disorders(2016)279 cited
- → Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy(2019)82 cited
- → Decreased expression of circulating microRNA-126 in patients with type 2 diabetic nephropathy: A potential blood-based biomarker(2016)70 cited
- → Time‐course effect of high‐glucose‐induced reactive oxygen species on mitochondrial biogenesis and function in human renal mesangial cells(2015)23 cited
- → Current Management of Duchenne Muscular Dystrophy in the Middle East: Expert Report(2019)21 cited
- → Failure to detect DUP25 in lymphoblastoid cells derived from patients with panic disorder and control individuals representing European and American populations(2004)16 cited
- → Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies(2002)15 cited
- → Retinoblastoma, pinealoma, and mild overgrowth in a boy with a deletion of RB1 and neighbor genes on chromosome 13q14(2003)13 cited
- → New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra(2021)13 cited
- → Among a panel of polymorphisms in genes related to oxidative stress, CAT-262 C>T, GPX1 Pro198Leu and GSTP1 Ile105Val influence the risk of developing BCR-ABL negative myeloproliferative neoplasms(2016)11 cited