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
JANUS KINASE V617F MUTATION DETECTION IN PATIENTS WITH MYELOFIBROSIS
Nikolova D1,2,*, Yordanov A2, Damyanova V1,2, Radinov A2, Toncheva D1
page: 57
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
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
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
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
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
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



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The 9th Balkan Congress of Medical Genetics
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