vol 22 Number VOL. 22(2), 2019 11/26/2019 Front cover page: Novo mesto, Kapiteljska niva, grave VI/34, a wide ribbed pottery vessel on a leg with a decorated handle (6th to 5th century BC) Back cover page: 1Kranj, Ljubljana, National museum, belt ornament and fibula arc, 6th century Cover design: Bitrakova-Grozdanova V, Skopje CHRONIC OBSTRUCTIVE PULMONARY DISEASE RISK AND SMOKING CESSATION CHANGES INDUCED BY CHRNA5-A3 AND CHRNB3-A6 VARIATION IN A CHINESE MALE POPULATION Zhao L1,, Zou L-Y2,, Cheng B-F3, Yu X-J4, Zou J-H5,*, Han W6,* page: 51 A 7-YEAR-OLD BOY WITH HAND TREMORS AND A NOVEL MUTATION FOR L-2-HYDROXYGLUTARIC ACIDURIA Olgac A1,*, Tekin Orgun L2, Ezgü FS1, Biberoǧlu G1, Tümer L1 page: 93 A NOVEL SPLICE-SITE MUTATION ON THE MLC1 GENE LEADING TO EXON 9 SKIPPING AND MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS IN A TURKISH PATIENT Türkyılmaz A1,*, Ünver O2, Ekinci G3, Türkdoğan D2 page: 89 OTOPALATODIGITAL SYNDROME TYPE I: NOVEL CHARACTERISTICS AND PRENATAL MANIFESTATIONS IN TWO SIBLINGS Joksic I1,*, Cuturilo G2,3, Jurisic A1,2, Djuricic S4,5, Peterlin B6, Mijovic M2, Karadzov Orlic N1,2, Egic A1,2, Milovanovic Z1,2 page: 83 INFANTILE ALEXANDER DISEASE WITH LATE ONSET INFANTILE SPASMS AND HYPSARRHYTHMIA Paprocka J1,*, Rzepka-Migut B2, Rzepka N2, Jezela-Stanek A3, Morava E4 page: 77 NOVEL GENOTYPE IN TWO SIBLINGS WITH 5-α- REDUCTASE 2 DEFICIENCY: DIFFERENT CLINICAL COURSE DUE TO THE TIME OF DIAGNOSIS Kocova M1,*, Plaseska-Karanfilska D2, Noveski P2, Kuzmanovska M2 page: 69 ASSOCIATION OF VDR GENE VARIANT (rs1544410) WITH TYPE 2 DIABETES IN A PAKISTANI COHORT Khan A1, Khan S2, Aman A1, Ali Y1, Jamal M3, Rahman B4, Ahmad M4, Aasim M4, Jalil F1,*, Shah AA4 page: 59 ASSOCIATION OF GENETIC POLYMORPHISMS IN THE Matrix Gla Protein (MGP) GENE WITH CORONARY ARTERY DISEASE AND SERUM MGP LEVELS Karsli-Ceppioglu S1,*, Yazar S2, Keskin Y3, Karaca M4, Luleci NE3, Yurdun T1 page: 43 ASSOCIATION OF VARIANTS IN THE CP, ATOX1 AND COMMD1 GENES WITH WILSON DISEASE SYMPTOMS IN LATVIA Zarina A1,2*, Tolmane I3,4, Krumina Z2, Tutane AI1, Gailite L1 page: 37 EVALUATION OF THE JAK2V617F MUTATIONAL BURDEN IN PATIENTS WITH PHILADELPHIA CHROMOSOME NEGATIVE MYELOPROLIFERATIVE NEOPLASMS: A SINGLE-CENTER EXPERIENCE Popova-Labachevska M1, Panovska-Stavridis I1,*, Eftimov A2, Kapedanovska Nestorovska A2, Cevreska L1, Ivanovski M1, Ridova N1, Trajkova S1, Dimovski AJ2,* page: 31 TWIST1 GENE EXPRESSION AS A BIOMARKER FOR PREDICTING PRIMARY DOXORUBICIN RESISTANCE IN BREAST CANCER Demir S1,10,*, Müslümanoğlu MH2, Müslümanoğlu M3, Başaran S4, Çalay ZZ5, Aydıner A6, Vogt U7, Çakır T8, Kadıoğlu H9, Artan S1 page: 25 RESULTS OF LIQUID BIOPSY STUDIES BY NEXT GENERATION SEQUENCING IN PATIENTS WITH ADVANCED STAGE NON-SMALL CELL LUNG CANCER: SINGLE CENTER EXPERIENCE FROM TURKEY Buyuksimsek M1,*, Togun M2, Oguz Kara I1, Bisgin A3,4, Boga I4, Tohumcuoglu M1, Ogul A1, Evren Yetisir A1, Sahin B1, Erdem Sumbul H5, Mirili C6 page: 17 TWIST1 GENE EXPRESSION AS A BIOMARKER FOR PREDICTING PRIMARY DOXORUBICIN RESISTANCE IN BREAST Staninova-Stojovska M1, Matevska-Geskovska N1, Panovski M2, Angelovska B3, Mitrevski N3, Ristevski M3, Jovanovic R4, Dimovski AJ1,5, page: 5 CLINICAL NEXT GENERATION SEQUENCING REVEALS AN H3F3A GENE AS A NEW POTENTIAL GENE CANDIDATE FOR MICROCEPHALY ASSOCIATED WITH SEVERE DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY AND GROWTH RETARDATION Maver A1, Čuturilo G2,3, Ruml Stojanović J3, Peterlin B1,* page: 65

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