
Number 27, VOL. 27 (2), 2024 All in one file - *Corresponding Author: - page: 0 download article in pdf format
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Abstract
CONTENTS
Original Articles
CREBBP IS A MAJOR PROGNOSTIC BIOMARKER FOR RELAPSE
IN CHILDHOOD B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA:
A NATIONAL STUDY OF UNSELECTED COHORT
Krstevska Bozhinovikj E, Matevska-Geshkovska N, Staninova Stojovska M,
Gjorgievska E, Jovanovska A, Kocheva S, Dimovski A.
.................................................................................................5
CHROMOSOMAL MICROARRAY IN CHILDREN BORN SMALL
FOR GESTATIONAL AGE – SINGLE CENTER EXPERIENCE
Perović D, Barzegar P, Damnjanović T, Jekić B, Grk M, Dušanović Pjević M, Cvetković D,
Đuranović Uklein A, Stojanovski N, Rašić M, Novaković I, Elhayani B, Maksimović N...........................................13
DELINEATION OF PARTIAL CHROMOSOMAL ABNORMALITIES
IN EARLY PREGNANCY LOSSES
Bozhinovski Gj, Terzikj M, Kubelka-Sabit K, Plaseska-Karanfilska D........................................................................23
A PILOT STUDY OF ANXA2, MED12, CALM1 AND MAPK1 GENE VARIANTS
IN PRIMARY HYPERPARATHYROIDISM
Chorti A, Achilla C, Siasiaridis A, Aristeidis I, Cheva A,
Theodosios Papavramidis T, Chatzikyriakidou A..........................................................................................................33
INVESTIGATION OF TLR4 POLYMORPHISM IN CHILDREN
WITH VESICOURETERAL REFLUX AND RENAL SCARRING
Sav NM, Eroz R, Kalay Duran N, Kilicaslan O, Erisen Karaca S.
................................................................................41
NEXT-GENERATION SEQUENCING INFERTILITY PANEL IN TURKEY:
FIRST RESULTS
Ikbal Atli E, Yalcintepe S, Atli E, Demir S, Gurkan H..................................................................................................49
INTERLEUKIN-1β AND TUMOR NECROSIS FACTOR-α GENE
POLYMORPHISMS IN SYSTEMIC SCLEROSIS
Hakami M.A, Alotaibi B.S, Alkhalil S.S, Das S, Nasreen N, Jeraiby M.A, Jawed A, Lohani M, Dar S.A..................59
IN VITRO ANALYSIS OF AKR1D1 INTERACTIONS WITH CLOPIDOGREL:
EFFECTS ON ENZYME ACTIVITY AND GENE EXPRESSION
Shutevska K, Kadifkova Panovska T, Zhivikj Z, Kapedanovska Nestorovska A.
.........................................................69
ASSOCIATION OF CYP2C19*2 C.681G>A (RS4244285)
LOSS-OF-FUNCTION ALLELE WITH CARDIOVASCULAR
DISEASE RISK IN THE KOSOVO POPULATION
Elshani N, Ukella K, Staninova Stojovska M, Naumovska Z,
Kurshumliu M, Gorani D, Kapedanovska Nestorovska A.
............................................................................................77
Case Reports
VALUE OF OPTICAL GENOME MAPPING (OGM)
FOR DIAGNOSTICS OF RARE DISEASES:
A FAMILY CASE REPORT
Kovanda A, Miljanović O, Lovrečić L, Maver A, Hodžić A, Peterlin B.
......................................................................87
PHENOTYPIC VARIABILITY OF COWDEN SYNDROME WITHIN A SINGLE FAMILY:
IMPACT ON DIAGNOSIS, MANAGEMENT AND GENETIC COUNSELLING
Ilic N, Mitrovic N, Radeta R, Krasić S, Vukomanović V, Samardzija G, Vasic M, Vlahovic A, Sarajlija A...............95
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Number 27 VOL. 27 (2), 2024 |
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