vol 21
Number VOL. 21(2), 2018
12/19/2018
Front cover page: Golden funeral glove, 5th century BC, Lychnidos, Ohrid Museum

Back cover page: Golden anthropomorphous earrings, 3rd century BC, Lychnidos, Ohrid Museum
Cover design: Bitrakova-Grozdanova V, Skopje
RARE CASE OF A HETEROZYGOUS MICRODELETION 9q21.11-q21.2: CLINICAL AND GENETIC CHARACTERISTICS
Ivanov HY, Stoyanova V, Ivanov I, Linev A, Vazharova R, Ivanov S, Balabanski L, Toncheva D
page: 59
A FAMILIAL CASE REPORT OF A 13;22 CHROMOSOMAL TRANSLOCATION WITH RECURRENT INTRACYTOPLASMIC SPERM INJECTION FAILURE
Verma S, Shah R, Bhat A, Bhat GR, Dada R, Kumar R,
page: 73
A NOVEL DE NOVO PARACENTRIC INVERSION [inv(20)(q13.1q13.3)] ACCOMPANIED BY AN 11q14.3-q21 MICRODELETION IN A PEDIATRIC PATIENT WITH AN INTELLECTUAL DISABILITY
Zachaki S, Kouvidi E, Mitrakos A, Lazaros L, Pantou A, Mavrou A, Tzetis M, Manola KN
page: 63
A NOVEL MUTATION IN A NEWBORN BABY LEADING TO GLYCOGEN STORAGE DISEASE TYPE IA
Dorum S, Gorukmez O
page: 55
THE ROLE OF NEXT GENERATION SEQUENCING IN THE DIFFERENTIAL DIAGNOSIS OF CAROLI’S SYNDROME
Smolović B, Muhović D, Hodžić A, Bergant G, Peterlin B
page: 49
NEXT GENERATION SEQUENCING IDENTIFIED A NOVEL MULTI EXON DELETION OF THE NF1 GENE IN A CHINESE PEDIGREE WITH NEUROFIBROMATOSIS TYPE 1
Yang J, An J-X, Liu X-L, Wang Z-Q, Xie G-M, Yang X-L, Xu S-J, Feng F, Ni Y -- Jie Yang and Jinxia An contributed equally to this study.
page: 45
CHARACTERISTIC DIAGNOSTIC CLUES OF METATROPIC DYSPLASIA: THE LUMBOTHORACIC HUMPBACK WITH DUMBBELL APPEARANCE OF THE LONG BONES
Gucev Z, Kalcev G, Laban N, Bozinovski Z, Popovski N, Saveski A, Daskalov B, Plaseska-Karanfilska D, Tasic V
page: 35
EPIGENETIC SIGNATURE OF CHRONIC MATERNAL STRESS LOAD DURING PREGNANCY MIGHT BE A POTENTIAL BIOMARKER FOR SPONTANEOUS PRETERM BIRTH
Rogac M, Peterlin B
page: 27
THE FREQUENCY OF EGFR AND KRAS MUTATIONS IN THE TURKISH POPULATION WITH NON-SMALL CELL LUNG CANCER AND THEIR RESPONSE TO ERLOTINIB THERAPY
Demiray A, Yaren A, Karagenç N, Bir F, Demiray AG, Karagür ER, Tokgün O, Elmas L, Akça H, https://orcid.org/0000-0002-3343-0184.
page: 21
DETERMINING SPECIFIC THYROID TRANSCRIPTS IN PERIPHERAL BLOOD: A SINGLE CENTER STUDY EXPERIENCE
Makazlieva T, Eftimov A, Vaskova O, Tripunoski T, Miladinova D, Risteski S, Jovanovic H, Jakovski Z Tanja Makazlieva and Aleksandar Eftimov contributed equally to this study and are considered first coauthors.
page: 13
INVESTIGATION OF CIRCULATING SERUM microRNA-328-3p AND microRNA-3135a EXPRESSION AS PROMISING NOVEL BIOMARKERS FOR AUTISM SPECTRUM DISORDER
Popov NT, Minchev DS, Naydenov MM, Minkov IN, Vachev TI
page: 5
PRENATAL DIAGNOSIS OF A NEW CASE: DE NOVO BALANCED NON-ROBERTSONIAN TRANSLOCATION INVOLVING t(15;22)(p11.2;q11.2)
Atli Eİ, Gurkan H, Atli E, Tozkir H, Varol GF, İnan C
page: 69
MYOTONIC DYSTROPHY-2: UNUSUAL PHENOTYPE DUE TO A SMALL CCTG-EXPANSION
Finsterer J, Stöllberger C, Reining-Festa A, Loewe-Grgurin M, Gencik M
page: 39



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The 9th Balkan Congress of Medical Genetics
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