Balkan Journal of Medical Genetics

Number 26 VOL. 26(2), 2023 All in one file
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Abstract

Content Original Articles PREIMPLANTATION GENETIC TESTING WITHIN THE PUBLIC HEALTHCARE SYSTEM IN SLOVENIA Volk M, Writzl K, Veble A, Jaklič H, Teran N, Prosenc B, Štimpfel M, Virant Klun I, Vrtačnik Bokal E, Ban Frangež H, Peterlin B .........................................................................................5 CHROMOSOMAL ABNORMALITIES IN EARLY PREGNANCY LOSSES: A STUDY OF 900 SAMPLES Bozhinovski Gj, Terzikj M, Kubelka-Sabit K, Jasar Dz, Lazarevski S, Livrinova V, Plaseska-Karanfilska D .....................................................................................................11 DROPLET DIGITAL PCR AS A MOLECULAR TOOL FOR THE DETECTION OF THE EGFR T790M MUTATION IN NSCLC PATIENTS WITH THE EGFR ACTIVATING MUTATIONS Durgut S, Salihefendić L, Pećar D, Čeko I, Mulahuseinović N, Izmirlija M, Konjhodžić R .......................................21 ASSOCIATION BETWEEN THE POLYMORPHISM OF ANGIOTENSIN-CONVERTING ENZYME GENE AND INTERLEUKIN-1 BETA GENE AND THE RESPONSE TO ERYTHROPOIETIN THERAPY IN DIALYSIS PATIENTS WITH ANEMIA Dzekova-Vidimliski P, Eftimovska-Otovikj N, Nikolov I G, Selim Gj, Rambabova-Bushljetik I, Pushevski V, Karanfilovski V, Matevska-Geshovska N, Dimovski A .................................27 CO-EXISTENCE OF CYP2C19*1/*2 AND ABCB1C.3435 CT GENOTYPE HAS A POTENTIAL IMPACT ON CLINICAL OUTCOME IN CAD PATIENTS TREATED WITH CLOPIDOGREL Nestorovska KA, Naumovska Z, Staninova Stojovska M, Sterjev Z, Dimovski A, Suturkova Lj ...............................35 DETERMINATION OF THE RELATIONSHIP BETWEEN DNA METHYLATION STATUS OF KLOTHO AND ARNTL GENES WITH HYPERTENSION Osum M, Tosun O, Birtan H, Kalkan R ........................................................................................................................41 DO GENE POLYMORPHISMS PLAY A ROLE IN NEWBORN HYPERBILIRUBINEMIA? Hakan N, Aydin M, Ceylaner S, Di̇lli̇ D, Zenci̇roğlu A, Okumuş N .............................................................................51 Case Reports EXPANDING THE PHENOTYPIC SPECTRUM: CHRONIC KIDNEY DISEASE IN A PATIENT WITH COMBINED OXIDATIVE PHOSPHORYLATION DEFECT 21 Paripović A, Maver A, Stajić N, Putnik J, Ostojić S, Alimpić B, Ilić N, Sarajlija A ....................................................59 EPHA4 GENETIC VARIANT IN A PATIENT WITH EPILEPSY, OPHTHALMOLOGICAL ANOMALIES, AND NEURODEVELOPMENTAL DELAY Sleptsova M, Georgiev C, Atemin S, Dimova P, Avdjieva-Tzavella D, Tacheva G, Litvinenko I, Grozdanova L, Todorov T, Mitev V, Todorova A ....................................................................................65 MISDIAGNOSIS OF TRACHER-COLLINS SYNDROME INITIALLY ATTRIBUTED TO DRUG TERATOGENICITY: A MOROCCAN CASE REPORT Lamzouri A, EL Rherbi A, Ratbi I, Laarabi FZ, Chahboune R, Elalaoui SC, Hamdaoui H, Bencheikh RS, Sefiani A ...................................................................................................69 SEVERE FORM OF SALIH MYOPATHY CAUSED BY COMBINATION OF TWO HETEROZYGOUS TTN MUTATIONS Milojković M, Jarić M, Stojanović V, Barišić N, Kavečan I ........................................................................................73 EXPERIENCE WITH THE KETOGENIC DIET IN A BOY WITH CLCN4 RELATED NEURODEVELOPMENTAL DISORDER Sager G, Yukselmi̇s U, Güzel O, Turkyılmaz A, Akcay M ...........................................................................................77

Number 27 VOL. 27 (2), 2024	Number 27 VOL. 27 (1), 2024
Number 26 Number 26 VOL. 26(2), 2023 All in one	Number 26 VOL. 26(2), 2023
Number 26 VOL. 26, 2023 Supplement	Number 26 VOL. 26(1), 2023
Number 25 VOL. 25(2), 2022	Number 25 VOL. 25 (1), 2022
Number 24 VOL. 24(2), 2021	Number 24 VOL. 24(1), 2021
Number 23 VOL. 23(2), 2020	Number 22 VOL. 22(2), 2019
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Number 15 VOL. 15, 2012 Supplement	Number 15 Vol. 15 (1), 2012
Number 14 14 - Vol. 14 (2), 2011	Number 14 The 9th Balkan Congress of Medical Genetics
Number 14 14 - Vol. 14 (1), 2011	Number 13 Vol. 13 (2), 2010
Number 13 Vol.13 (1), 2010	Number 12 Vol.12 (2), 2009
Number 12 Vol.12 (1), 2009	Number 11 Vol.11 (2),2008
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Number 10 10 (1),2007	Number 9 1&2, 2006
Number 9 3&4, 2006	Number 8 1&2, 2005
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Number 4 Vol.1 (4), 1998	Number 4 3&4, 2001
Number 4 1&2, 2001	Number 3 Vol.3 (3), 2000
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Number 2 Vol.3(2), 2000	Number 2 Vol.1 (2), 1998
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Number 1 Vol.2 (1), 1999	Number 1 Vol.1 (1), 1998

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