vol 22 Number VOL. 22(1), 2019 8/27/2019 Front cover page: Marble Hellenistic head, Archaeological Museum, Thessaloniki Back cover page: Trapesophorus (pedestal of a table), Archaeological Museum, Thessaloniki Cover design: Bitrakova-Grozdanova V, Skopje A NOVEL c.973G>T MUTATION IN THE ε-SUBUNIT OF THE ACETYLCHOLINE RECEPTOR CAUSING CONGENITAL MYASTHENIC SYNDROME IN AN IRANIAN FAMILY Karimzadeh P1,2, Parvizi Omran S3, Ghaedi H4, Omrani MD4,* page: 95 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: 1 NOVEL PATTERNS OF THE EPSTEIN-BARR NUCLEAR ANTIGEN (EBNA-1) V-VAL SUBTYPE IN EBV-ASSOCIATED NASOPHARYNGEAL CARCINOMA FROM VIETNAM Thuan LD1, Kha ND2, Minh NT3, Thuy LHA1,* page: 61 ACHONDROGENESIS TYPE 2 IN A NEWBORN WITH A NOVEL MUTATION ON THE COL2A1 GENE Dogan P1,*, Varal IG1, Gorukmez O2, Akkurt MO3, Akdag A1 page: 89 DUPLICATION OF THE SOX3 GENE IN AN SRY-NEGATIVE 46,XX MALE WITH ASSOCIATED CONGENITAL ANOMALIES OF KIDNEYS AND THE URINARY TRACT: CASE REPORT AND REVIEW OF THE LITERATURE Tasic V1, Mitrotti A2, Riepe FG3, Kulle AE3, Laban N1, Polenakovic M4, Plaseska-Karanfilska D4, Sanna-Cherchi S2, Kostovski M1, Gucev Z1,* page: 81 IMPACT OF GENETICS ON NEOADJUVANT THERAPY WITH COMPLETE PATHOLOGICAL RESPONSE IN METASTATIC COLORECTAL CANCER: CASE REPORT AND REVIEW OF THE LITERATURE Bulajic P1, Bidzic N1,*, Djordjevic V1, Ceranic M1,2, Basaric D1,2, Pesic V3, Djordjevic-Pesic J4 page: 75 DO FAIR AND JUST SYSTEMS REQUIRE COMPENSATION FOR THE DISADVANTAGES OF THE NATURAL LOTTERY? A DISCUSSION ON SOCIETY’S DUTIES ON THE PROVISION OF GENE THERAPY Ekmekci PE1,*, Güner MD2 page: 69 COMPARATIVE EXPRESSION ANALYSIS OF HUMAN ENDOGENOUS RETROVIRUS ELEMENTS IN PERIPHERAL BLOOD OF CHILDREN WITH SPECIFIC LANGUAGE IMPAIRMENT Minchev DS1,2,*, Popov NT3, Naimov SI1, Minkov IN4, Vachev TI1 page: 49 ASSOCIATIONS BETWEEN VASPIN RS2236242 GENE POLYMORPHISM, WALKING TIME AND THE RISK OF METABOLIC SYNDROME Suliga E1, Kozieł D2, Cieśla E3, Rębak D2, Wawszczak M2,*, Adamus-Białek W2, Naszydłowska E4, Piechowska A2, Głuszek S2 page: 41 CYSTIC FIBROSIS MUTATION SPECTRUM IN NORTH MACEDONIA: A STEP TOWARD PERSONALIZED THERAPY Terzic M1, Jakimovska M1, Fustik S2, Jakovska T3, Sukarova-Stefanovska E1, Plaseska-Karanfilska D1,* page: 35 PRENATAL DIAGNOSIS OF ORGANIC ACIDEMIAS AT A TERTIARY CENTER Tanacan A1,*, Gurbuz BB2, Aydin E1, Erden M1, Coskun T2, Beksac MS1 page: 29 INCREASED EXPRESSION OF PENTRAXIN 3 IN PLACENTAL TISSUES FROM PATIENTS WITH UNEXPLAINED RECURRENT PREGNANCY LOSS Zeybek S1,*, Tepeli E2, Cetin GO3, Caner V3, Senol H4, Yildirim B2, Bagci G3 page: 21 A SYSTEMATIC CLINICAL REVIEW OF PRENATALLY DIAGNOSED TETRASOMY 9p Vinkšel M, Volk M, Peterlin B, Lovrecic L* page: 11 COPY NUMBER VARIATIONS IN FEMALE INFERTILITY IN CHINA Huang W*, Wang J, Pang M, Zhao Q, Kong L, Mao Y, Li W, Liang B page: 5 JANUS KINASE V617F MUTATION DETECTION IN PATIENTS WITH MYELOFIBROSIS Nikolova D1,2,*, Yordanov A2, Damyanova V1,2, Radinov A2, Toncheva D1 page: 57

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