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List of works by Cristina Skrypnyk

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.

scientific article

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

scientific article published on 15 August 2019

Current management of Duchenne muscular dystrophy in the Middle East: expert report

scientific article published on 05 June 2019

Decreased expression of circulating microRNA-126 in patients with type 2 diabetic nephropathy: A potential blood-based biomarker.

scientific article published on 26 May 2016

Exome Sequencing and the Management of Neurometabolic Disorders.

scientific article published on 25 May 2016

Failure to detect DUP25 in lymphoblastoid cells derived from patients with panic disorder and control individuals representing European and American populations

scientific article published on June 2004

High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case

scientific article

Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies.

scientific article published in November 2002

Retinoblastoma, pinealoma, and mild overgrowth in a boy with a deletion of RB1 and neighbor genes on chromosome 13q14.

scientific article published in February 2004

Time-course effect of high-glucose-induced reactive oxygen species on mitochondrial biogenesis and function in human renal mesangial cells.

scientific article published on 6 August 2015

Use of MLPA test in the detection of subtelomeric rearrangements--case report

scientific article published in April 2009

Y-chromosome STR haplotype diversity in three ethnically isolated population from North-Western Romania

scientific article published on 26 January 2011

[MLPA technique--principles and use in practice].

scientific article

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