Cristina Skrypnyk
Cristina Skrypnyk
Arabian Gulf University Bahrain
Verified email at agu.edu.bh
Title
Cited by
Cited by
Year
Exome sequencing and the management of neurometabolic disorders
M Tarailo-Graovac, C Shyr, CJ Ross, GA Horvath, R Salvarinova, XC Ye, ...
New England Journal of Medicine 374 (23), 2246-2255, 2016
2192016
Decreased expression of circulating microRNA-126 in patients with type 2 diabetic nephropathy: a potential blood-based biomarker
G Al‑Kafaji, G Al‑Mahroos, HA Al‑Muhtaresh, C Skrypnyk, MA Sabry, ...
Experimental and therapeutic medicine 12 (2), 815-822, 2016
472016
High incidence of the R276X SALL1 mutation in sporadic but not familial Townes–Brocks syndrome and report of the first familial case
J Kohlhase, M Liebers, J Backe, A Baumann-Müller, M Bembea, ...
Journal of medical genetics 40 (11), e127-e127, 2003
242003
Failure to detect DUP25 in lymphoblastoid cells derived from patients with panic disorder and control individuals representing European and American populations
G Zhu, O Bartsch, C Skrypnyk, A Rotondo, LA Akhtar, C Harris, ...
European journal of human genetics 12 (6), 505-508, 2004
212004
Influence of XPC, XPD, XPF, and XPG gene polymorphisms on the risk and the outcome of acute myeloid leukemia in a Romanian population.
C Bănescu, M Iancu, PA Trifa, M Dobreanu, GV Moldovan, C Duicu, ...
Tumor Biology, 2016
202016
Retinoblastoma, pinealoma, and mild overgrowth in a boy with a deletion of RB1 and neighbor genes on chromosome 13q14
C Skrypnyk, O Bartsch
American Journal of Medical Genetics Part A 124 (4), 397-401, 2004
172004
Time‐course effect of high‐glucose‐induced reactive oxygen species on mitochondrial biogenesis and function in human renal mesangial cells
G Al‐Kafaji, MA Sabry, C Skrypnyk
Cell Biology International 40 (1), 36-48, 2016
142016
Bi-allelic GOT2 mutations cause a treatable malate-aspartate shuttle-related encephalopathy
CDM van Karnebeek, RJ Ramos, XY Wen, M Tarailo-Graovac, ...
The American Journal of Human Genetics 105 (3), 534-548, 2019
132019
Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies
C Skrypnyk, TO Goecke, F Majewski, O Bartsch
American journal of medical genetics 113 (2), 207-212, 2002
92002
Y-chromosome STR haplotype diversity in three ethnically isolated population from North-Western Romania
M Bembea, A Patocs, K Kozma, C Jurca, C Skrypnyk
Forensic Science International: Genetics 5 (3), e99-e100, 2011
82011
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 …
AP Trifa, C Bănescu, D Dima, AS Bojan, M Tevet, VG Moldovan, ȘC Vesa, ...
Hematology 21 (9), 520-525, 2016
62016
The Value of FLT3, NPM1 and DNMT3A Gene Mutation Analysis in Acute Myeloid Leukemia Diagnosis
C Bănescu, C Skrypnyk
Revista Romana de Medicina de Laborator 27 (3), 239-243, 2019
52019
GOT2 deficiency: a novel disorder of the malate aspartate shuttle resulting in serine deficiency
R RJJKC, M Tarailo-Graovac, C Skrypnyk
JIMD abstracts SSIEMnumber 1704, 2018
52018
PRADER-WILLI SYNDROME WITH ASSOCIATED TRIPLE-X MOSAICISM.
I Pascanu, R Ruff, C Banescu, C Skrypnyk
Acta Endocrinologica (1841-0987) 6 (4), 2010
52010
MLPA technique--principles and use in practice
C Rusu, A Sireteanu, M Puiu, C Skrypnyk, E Tomescu, K Csep, V Creţ, ...
Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi …, 2007
52007
Mic ghid de diagnostic în bolile rare
M Puiu, C SkryPnyk
Editura Victor Babes, Timisoara, 2009
32009
Effects of Topiramate on Pregnancy Outcome in Rats
R Fadel, C Skrypnyk, AH Salem, M Abu Hijleh, A Jaradat, R Sequeira
Bahrain Medical Bulletin 158 (5880), 1-5, 2016
12016
A novel bi‐allelic loss‐of‐function mutation in STIM1 expands the phenotype of STIM1‐related diseases
A Salvi, C Skrypnyk, N Da Silva, JA Urtizberea, M Bakhiet, C Robert, ...
Clinical Genetics, 2021
2021
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra
AY Mah-Som, C Skrypnyk, A Guerin, RHS Jadah, VN Vardhan, ...
Neurology Genetics 7 (1), 2021
2021
Early-onset parkinsonian syndrome and PLA2G6 gene mutation
C Skrypnyk, MB Falah
EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 887-888, 2020
2020
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Articles 1–20