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The Research Papers for the Researcher
Dr. CRISTINA SKRYPNYK


2013
Khawla Yahya Hawamdeh, Cristina Skrypnyk. . Multidisable people needs’ profile- a comprehensive approach. European Scientific Journal ;vol.9(November, 33 ):136-150
2011
Bembea MPA, Kozma K, Jurca C, Skrypnyk C. . Y-chromosome STR haplotype diversity in three ethnically isolated population from North-Western Romania. Forensic Sci Int Genet ;5(3):99-100
2010
Pascanu I, Ruff R, Banescu C, Skrypnyk C. . Prader-Willi syndrome with associated triple X mosaicism.. Acta Endo (Buc) ;(6):521-32
2009
Cristina Rusu, Elena Neagu, Cristina Skrypnyk, Vasilica Bica, M. Volosciuc, M. Bembea, Adriana Sireteanu, Mihaela Gra. Use of MLPA test in detection of subtelomeric rearrangements- case reports . Rev. Med. Chir. Soc. Med. Nat. Iasi Ro ;113(Nr 2):516-522
2007
Cristina Rusu, Adriana Sireteanu, Maria Puiu, Cristina Skrypnyk, E. Tomescu, Katalin Csep, Victoria Cret, Ligia Barba. MLPA technique- principles and use in practice. Rev. Med. Chir. Soc. Med. Nat. Iasi Ro ;111 (Nr 3):1001-1004
Victoria Cret, Mariela Militaru, Cristina Rusu, Maria Puiu, Cristina Skrypnyk, Ligia Barbarii, K. Csep, E. Tomescu. MLPA (Multiplex ligation-dependent probe amplification)- new method for idiopathic mental retardation cases . Clujul Medical;LXXX():17-21
Skrypnyk Cristina, Marius Bembea,Cristina Rusu, Victoria Cret, Maria Puiu, Csep Kakalin, Emil Tomescu, Vasilica Bica,. MLPA (Multiplex Ligation Dependent Probe Amplification) for mental retardation diagnosis. Revista Medicala Oradeana ;14(Nr 2):114-119
Bereki Eniko, Bembea Marius, Filip Valeria, Skrypnyk Cristina, Spineanu Radu.. Cardiac anomalies in embriofetopathies . Revista Medicala Oradeana ;14(Nr 2):44-48
2006
Maria Puiu, L. Dehelean, Cristina Rusu, Cristina Skrypnyk, Ligia Barbarii, E. Tomescu, Victoria Cret, Katalin Csep. The optimization of the diagnosis and management of the patients affected by mental retardation using MLPA test in the evaluation protocol . Official Journal of Romanian Society of Pediatric Surgery;IX(Nr 35-36):3-5
2004
M Bembea, Valeria Filip, Cristina Skrypnyk, Claudia Jurca. . Congenital anomalies in perinatal mortality. Revista Medicala Oradeana ;(Nr 1):34-40
Maria Porumb, Cristina Skrypnyk, Marius Bembea. Drugs during pregnancy- risk factor for cardiac malformations . Romanian Journal of Pediatrics;III(Nr 2-3):58-60
Zhu G, Bartsch O, Skrypnyk C, Rotondo A, Akhtar LA, Harris C, Virkkunen M, Cassano G, Goldman D. . Failure to detect DUP25 in lymphoblastoid cells derived from patients with panic disorder and control individuals representing European and American populations. Eur J Hum Genet. ;12(6):505-508
Skrypnyk C, Bartsch O. Retinoblastoma, pinealoma, and mild overgrowth in a boy with a deletion of RB1 and neighbor genes on chromosome 13q14. Am J Med Genet. ;Feb1(124A):397-401.
2003
Maria Porumb, Marius Bembea, Cristina Skrypnyk. Ultrasound contribution for Marfan syndrome prognosis. Romanian Journal of Pediatrics;II(Nr 4):48-51
Maria Porumb, Marius Bembea, Cristina Skrypnyk. Maternal infections and congenital heart malformations . Romanian Journal of Pediatrics;II(Nr 3):34-36
M. Bembea, Cristina Skrypnyk, Claudia Jurca, R. Spineanu, S. Bembea, C. Todor, Mircea Ifrim. Singular and syndromic ano-rectal malformations. Romanian Journal of Functional and Clinical, Macro- and Microscopical Anatomy and of Anthropology;(Nr 3):47-53
Maria Porumb, Marius Bembea, Cristina Skrypnyk. Ultrasound contribution for Marfan syndrome prognosis. Romanian Journal of Pediatrics;II(Nr 4):48-51
Kohlhase J, Liebers M, Backe J, Baumann-Muller A, Bembea M, Destree A, Gattas M, Grussner S, Muller T, Mortier G, Skr. High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case. J Med Genet. ;Nov 40(11):127
2002
Skrypnyk C, Goecke TO, Majewski F, Bartsch O. . Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies. Am J Med Genet. ;Nov 22(113):207-212

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