Number 27 VOL. 27(1), 2024 All in one file
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Abstract
ANXA5 AND VEGFA GENE VARIANTS IN WOMEN
WITH EARLY PREGNANCY LOSSES FROM NORTH MACEDONIA
Terzikj M, Bozhinovski Gj, Branoski A, Dimkovska M, Kubelka-Sabit K, Plaseska-Karanfilska D ...........................5
IGHV MUTATIONAL STATUS IN A COHORT OF BULGARIAN CLL PATIENTS:
HIGH UNMUTATED CLL PREVALENCE IN NORTH-EAST BULGARIA
Yosifova A, Micheva I, Donchev M, Tincheva S, Ormandjiev S, Genova J, Pavlova Z, Todorova A ........................15
COMPARISON OF FGF -8, FGF -10, FGF- RECEPTOR 2, ANDROGEN RECEPTOR,
ESTROGEN RECEPTOR-Α AND SS IN HEALTHY AND HYPOSPADIAC CHILDREN
Emaratpardaz N, Turkyilmaz Z, Karabulut R, Dayanir D, Kaya C, Sert AAE, Arkan G,
Ucaner FA, Kapisiz A, Eryilmaz S, Atan A, Sonmez K ..............................................................................................21
THE SPECTRUM AND FREQUENCY OF CYSTIC FIBROSIS MUTATIONS
IN ALBANIAN PATIENTS
Kasmi I, Kasmi G, Basholli B, Sefa HS, Vevecka E ...................................................................................................31
MEANING AND CLINICAL INTEREST OF MINOR MALFORMATIONS
AND NORMAL VARIANTS IN NEONATOLOGY
Grubeša Raguž S, Jerković Raguž M, Brzica £, Džida S, Mikulić S, Kolobarić A, Galić T .......................................37
HIGH-RESOLUTION HLA-DRB1 ALLELE FREQUENCIES
IN A ROMANIAN COHORT OF STEM CELL DONORS
Caragea ÌÀ, Ursu IR, Visan DL, Maruntelu I, Iordache
P, Constantinescu A, Tizu M, Tălăngescu A, Constantinescu I ...................................................................................43
THE IMPACT OF THE COVID-19 PANDEMIC ON INDIVIDUALS
WITH DOWN SYNDROME: A CROATIAN SURVEY
Barišić A, Ergović Ravančić M, Majstorović D, Vraneković J ...................................................................................51
Case Reports
ULTRA-EARLY DIFFUSE LUNG DISEASE IN AN INFANT
WITH PATHOGENIC VARIANT IN TELOMERASE
REVERSE TRANSCRIPTASE (TERT) GENE
Visekruna J, Basa M, Grba T, Andjelkovic M, Pavlovic S, Nathan N, Sovtic A .........................................................59
THE IMPORTANCE OF MOLECULAR BIOLOGICAL ANALYSIS
FOR THE LABORATORY DIAGNOSTIC OF HOMOZYGOUS HAEMOGLOBIN MALAY
Bahar R, Zulkafli Z, Zulkeflee RH, Hassan MN, Rahman Wan S Wan Ab, Noor NH M,
Ramli M, Hussin A, Abdullah AD, Iberahim S, Abdullah M, Yusoff S M ..................................................................65
NOVEL DGAT1 MUTATIONS IDENTIFIED IN CONGENITAL DIARRHEAL DISORDER 7:
A CASE REPORT WITH THERAPEUTIC EXPERIENCE
Shi C, Liu XL, Li XN, Zhao YJ ...................................................................................................................................69
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