vol 27 Number VOL. 27 (2), 2024 3/10/2025 Front cover page: Back cover page: Cover design: Number 27, VOL. 27 (2), 2024 All in one file - page: 0 VALUE OF OPTICAL GENOME MAPPING (OGM) FOR DIAGNOSTICS OF RARE DISEASES: A FAMILY CASE REPORT Kovanda A1,2, Miljanović O3, Lovrečić L1,2, Maver A1,2, Hodžić A1,2, Peterlin B1,2,* page: 87 ASSOCIATION OF CYP2C19*2 C.681G>A (RS4244285) LOSS-OF-FUNCTION ALLELE WITH CARDIOVASCULAR DISEASE RISK IN THE KOSOVO POPULATION Elshani N1*, Ukella K1, Staninova Stojovska M2, Naumovska Z2, Kurshumliu M3, Gorani D4, Kapedanovska Nestorovska A page: 0 IN VITRO ANALYSIS OF AKR1D1 INTERACTIONS WITH CLOPIDOGREL: EFFECTS ON ENZYME ACTIVITY AND GENE EXPRESSION Shutevska K1*, Kadifkova Panovska T1, Zhivikj Z1, Kapedanovska Nestorovska A2 page: 69 INTERLEUKIN-1β AND TUMOR NECROSIS FACTOR-α GENE POLYMORPHISMS IN SYSTEMIC SCLEROSIS Hakami M.A1, Alotaibi B.S1, Alkhalil S.S1, Das S2, Nasreen N3, Jeraiby M.A4, Jawed A5, Lohani M5, Dar S.A5* page: 59 NEXT-GENERATION SEQUENCING INFERTILITY PANEL IN TURKEY: FIRST RESULTS Ikbal Atli E1*, Yalcintepe S1, Atli E1, Demir S1, Gurkan H1 page: 49 INVESTIGATION OF TLR4 POLYMORPHISM IN CHILDREN WITH VESICOURETERAL REFLUX AND RENAL SCARRING Sav NM1*, Eroz R2, Kalay Duran N3, Kilicaslan O4, Erisen Karaca S5 page: 41 DELINEATION OF PARTIAL CHROMOSOMAL ABNORMALITIES IN EARLY PREGNANCY LOSSES Bozhinovski Gj1, Terzikj M1, Kubelka-Sabit K2,3, Plaseska-Karanfilska D1,* page: 23 CHROMOSOMAL MICROARRAY IN CHILDREN BORN SMALL FOR GESTATIONAL AGE – SINGLE CENTER EXPERIENCE Perović D1, Barzegar P2, Damnjanović T1, Jekić B1, Grk M1, Dušanović Pjević M1, Cvetković D3, Đuranović Uklein A1, Stojanovski N1, Rašić M1, Novaković I1, Elhayani B2, Maksimović N1 page: 13 CREBBP IS A MAJOR PROGNOSTIC BIOMARKER FOR RELAPSE IN CHILDHOOD B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA: A NATIONAL STUDY OF UNSELECTED COHORT Krstevska Bozhinovikj E1, Matevska-Geshkovska N1, Staninova Stojovska M1, Gjorgievska E1, Jovanovska A2, Kocheva S2*, Dimovski A1,3* page: 5 PHENOTYPIC VARIABILITY OF COWDEN SYNDROME WITHIN A SINGLE FAMILY: IMPACT ON DIAGNOSIS, MANAGEMENT AND GENETIC COUNSELLING Ilic N1, Mitrovic N2, Radeta R3, Krasić S4,5, Vukomanović V4,5, Samardzija G2, Vasic M6, Vlahovic A5,6, Sarajlija A1,5 page: 95 A PILOT STUDY OF ANXA2, MED12, CALM1 AND MAPK1 GENE VARIANTS IN PRIMARY HYPERPARATHYROIDISM Chorti A#1, Achilla C#2, Siasiaridis A2, Aristeidis I1, Cheva A3, Theodosios Papavramidis T##1, Chatzikyriakidou A##*2,4 page: 33

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