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Balkan Journal of Medical Genetics

Volume 27 (2024): Issue 1 (June 2024)

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10 Articles

Original Article

Open Access | Sep 06, 2024
ANXA5 and VEGFA Gene Variants in Women with Early Pregnancy Losses from North Macedonia
M Terzikj

M Terzikj

Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and ArtsSkopje, North Macedonia
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Terzikj, M
, 
Gj Bozhinovski

Gj Bozhinovski

Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and ArtsSkopje, North Macedonia
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Bozhinovski, Gj
, 
A Branoski

A Branoski

Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and ArtsSkopje, North Macedonia
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Branoski, A
, 
M Dimkovska

M Dimkovska

Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and ArtsSkopje, North Macedonia
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Dimkovska, M
, 
K Kubelka-Sabit

K Kubelka-Sabit

  • Private Hospital “Acibadem-Sistina”Skopje, North Macedonia
  • Faculty of medical sciences, University “Goce Delcev”North Macedonia
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Kubelka-Sabit, K
 and 
D Plaseska-Karanfilska

D Plaseska-Karanfilska

Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and ArtsSkopje, North Macedonia
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Plaseska-Karanfilska, D
  
Open Access | Sep 06, 2024
IGHV Mutational Status in a Cohort of Bulgarian CLL Patients: High Unmutated CLL Prevalence in North-East Bulgaria
A Yosifova

A Yosifova

Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
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Yosifova, A
, 
I Micheva

I Micheva

University Multiprofessional Hospital for Active Treatment “Sveta Marina”Varna, Bulgaria
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Micheva, I
, 
M Donchev

M Donchev

National Specialized Hospital for Active Treatment of Hematological Diseases, Clinical Hematology Department 1Sofia, Bulgaria
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Donchev, M
, 
S Tincheva

S Tincheva

  • Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
  • Independent Medico-Diagnostic Laboratory “Genome Center Bulgaria”Sofia, Bulgaria
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Tincheva, S
, 
S Ormandjiev

S Ormandjiev

  • Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
  • Independent Medico-Diagnostic Laboratory “Genome Center Bulgaria”Sofia, Bulgaria
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Ormandjiev, S
, 
J Genova

J Genova

Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
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Genova, J
, 
Z Pavlova

Z Pavlova

  • Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
  • Independent Medico-Diagnostic Laboratory “Genome Center Bulgaria”Sofia, Bulgaria
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Pavlova, Z
 and 
A Todorova

A Todorova

  • Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
  • Independent Medico-Diagnostic Laboratory “Genome Center Bulgaria”Sofia, Bulgaria
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Todorova, A
  
Open Access | Sep 06, 2024
Comparison of FGF-8, FGF-10, FGF-Receptor 2, Androgen Receptor, Estrogen Receptor-A and SS in Healthy and Hypospadiac Children
N Emaratpardaz

N Emaratpardaz

Gazi University Faculty of Medicine, Departments of Pediatric SurgeryAnkara, Turkey
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Emaratpardaz, N
, 
Z Turkyilmaz

Z Turkyilmaz

Gazi University Faculty of Medicine, Departments of Pediatric SurgeryAnkara, Turkey
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Turkyilmaz, Z
, 
R Karabulut

R Karabulut

Gazi University Faculty of Medicine, Departments of Pediatric SurgeryAnkara, Turkey
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Karabulut, R
, 
D Dayanir

D Dayanir

Gazi University Faculty of Medicine, Departments of Histology and EmbryologyAnkara, Turkey
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Dayanir, D
, 
C Kaya

C Kaya

Gazi University Faculty of Medicine, Departments of Pediatric SurgeryAnkara, Turkey
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Kaya, C
, 
AAE Sert

AAE Sert

Gazi University Faculty of Medicine, Departments of Histology and EmbryologyAnkara, Turkey
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Sert, AAE
, 
G Arkan

G Arkan

Gazi University Faculty of Medicine, Departments of Pediatric SurgeryAnkara, Turkey
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Arkan, G
, 
FA Ucaner

FA Ucaner

Gazi University Faculty of Medicine, Departments of Pediatric SurgeryAnkara, Turkey
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Ucaner, FA
, 
A Kapisiz

A Kapisiz

Gazi University Faculty of Medicine, Departments of Pediatric SurgeryAnkara, Turkey
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Kapisiz, A
, 
S Eryilmaz

S Eryilmaz

Gazi University Faculty of Medicine, Departments of Pediatric SurgeryAnkara, Turkey
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Eryilmaz, S
, 
A Atan

A Atan

Gazi University Faculty of Medicine, Departments of UrologyAnkara, Turkey
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Atan, A
 and 
K Sonmez

K Sonmez

Gazi University Faculty of Medicine, Departments of Pediatric SurgeryAnkara, Turkey
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Sonmez, K
  
Open Access | Sep 06, 2024
The Spectrum and Frequency of Cystic Fibrosis Mutations in Albanian Patients
I Kasmi

I Kasmi

University Hospital Center “Mother Teresa” (UHCMT), Pediatric DepartmentTirana,
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Kasmi, I
, 
G Kasmi

G Kasmi

University of Medicine, Tirana (UMT), Laboratory Department
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Kasmi, G
, 
B Basholli

B Basholli

University Hospital Center “Mother Teresa” (UHCMT), Pediatric DepartmentTirana,
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Basholli, B
, 
HS Sefa

HS Sefa

Laboratory Department, Catholic Hospital “Our Lady of Good Counsel”Tirana, Albania
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Sefa, HS
 and 
E Vevecka

E Vevecka

University Hospital Center “Mother Teresa” (UHCMT), Pediatric DepartmentTirana,
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Vevecka, E
  
Open Access | Sep 06, 2024
Meaning and Clinical Interest of Minor Malformations and Normal Variants in Neonatology
S Grubeša Raguž

S Grubeša Raguž

Clinic for Children’s Diseases, Clinical Department of Neonatology, University Clinical Hospital Mostar
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Grubeša Raguž, S
, 
M Jerković Raguž

M Jerković Raguž

  • Clinic for Children’s Diseases, Clinical Department of Neonatology, University Clinical Hospital Mostar
  • Faculty of Medicine, University of MostarMostar, Bosnia and Herzegovina
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Jerković Raguž, M
, 
J Brzica

J Brzica

Health centerGrude, Bosnia and Herzegovina
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Brzica, J
, 
S Džida

S Džida

Clinic for Children’s Diseases, University Clinical Hospital MostarMostar, Bosnia and Herzegovina
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Džida, S
, 
S Mikulić

S Mikulić

Clinic for Children’s Diseases, University Clinical Hospital MostarMostar, Bosnia and Herzegovina
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Mikulić, S
, 
A Kolobarić

A Kolobarić

Clinic for Children’s Diseases, University Clinical Hospital MostarMostar, Bosnia and Herzegovina
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Kolobarić, A
 and 
T Galić

T Galić

Clinic for Children’s Diseases, University Clinical Hospital MostarMostar, Bosnia and Herzegovina
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Galić, T
  
Open Access | Sep 06, 2024
High-Resolution HLA-DRB1 Allele Frequencies in a Romanian Cohort of Stem Cell Donors
MA Caragea

MA Caragea

  • Carol Davila University of Medicine and PharmacyBucharest, Romania
  • Center for Immunogenetics and Virology, Fundeni Clinical InstituteBucharest, Romania
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Caragea, MA
, 
IR Ursu

IR Ursu

Carol Davila University of Medicine and Pharmacy, Department of Medical GeneticsBucharest, Romania
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Ursu, IR
, 
DL Visan

DL Visan

Center for Immunogenetics and Virology, Fundeni Clinical InstituteBucharest, Romania
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Visan, DL
, 
I Maruntelu

I Maruntelu

  • Carol Davila University of Medicine and PharmacyBucharest, Romania
  • Center for Immunogenetics and Virology, Fundeni Clinical InstituteBucharest, Romania
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Maruntelu, I
, 
P Iordache

P Iordache

Carol Davila University of Medicine and Pharmacy, Department of EpidemiologyBucharest, Romania
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Iordache, P
, 
A Constantinescu

A Constantinescu

Carol Davila University of Medicine and PharmacyBucharest, Romania
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Constantinescu, A
, 
M Tizu

M Tizu

  • Carol Davila University of Medicine and PharmacyBucharest, Romania
  • Center for Immunogenetics and Virology, Fundeni Clinical InstituteBucharest, Romania
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Tizu, M
, 
A Tălăngescu

A Tălăngescu

  • Carol Davila University of Medicine and PharmacyBucharest, Romania
  • Center for Immunogenetics and Virology, Fundeni Clinical InstituteBucharest, Romania
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Tălăngescu, A
 and 
I Constantinescu

I Constantinescu

  • Carol Davila University of Medicine and PharmacyBucharest, Romania
  • Center for Immunogenetics and Virology, Fundeni Clinical InstituteBucharest, Romania
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Constantinescu, I
  
Open Access | Sep 06, 2024
The Impact of the COVID-19 Pandemic on Individuals with Down Syndrome: A Croatian Survey
A Barišić

A Barišić

Department of Gynaecology and Obstetrics, Clinical Hospital Centre RijekaRijeka, Croatia
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Barišić, A
, 
M Ergović Ravančić

M Ergović Ravančić

Faculty of Tourism and Rural Development in PožegaCroatia
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Ergović Ravančić, M
, 
D Majstorović

D Majstorović

Faculty of Medicine, Juraj Dobrila University of PulaPula, Croatia
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Majstorović, D
 and 
J Vraneković

J Vraneković

Department of Medical Biology and Genetics, Faculty of Medicine, University of RijekaRijeka, Croatia
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Vraneković, J
  

Case Report

Open Access | Sep 06, 2024
Ultra-Early Diffuse Lung Disease in an Infant with Pathogenic Variant in Telomerase Reverse Transcriptase (TERT) Gene
J Visekruna

J Visekruna

Department of Pulmonology, Mother and Child Health Institute of SerbiaBelgrade, Serbia
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Visekruna, J
, 
M Basa

M Basa

Department of Pulmonology, Mother and Child Health Institute of SerbiaBelgrade, Serbia
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Basa, M
, 
T Grba

T Grba

Department of Pulmonology, Mother and Child Health Institute of SerbiaBelgrade, Serbia
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Grba, T
, 
M Andjelkovic

M Andjelkovic

Institute of Molecular Genetics and Genetic Engineering, University of BelgradeBelgrade, Serbia
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Andjelkovic, M
, 
S Pavlovic

S Pavlovic

Institute of Molecular Genetics and Genetic Engineering, University of BelgradeBelgrade, Serbia
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Pavlovic, S
, 
N Nathan

N Nathan

  • AP-HP, Sorbonne Université, Pediatric Pulmonology Department and Reference Centre for Rare Lung Disease RespiRare, Armand Trousseau HospitalParis, France
  • Sorbonne Université, Inserm UMR_S933 Laboratory of Childhood Genetic Diseases, Armand Trousseau HospitalParis, France
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Nathan, N
 and 
A Sovtic

A Sovtic

  • Department of Pulmonology, Mother and Child Health Institute of SerbiaBelgrade, Serbia
  • School of Medicine, University of BelgradeSerbia
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Sovtic, A
  
Open Access | Sep 06, 2024
The Importance of Molecular Biological Analysis for the Laboratory Diagnostic of Homozygous Haemoglobin Malay
R Bahar

R Bahar

  • School of Medical Sciences, Universiti Sains MalaysiaKelantan,
  • Hospital USM, Universiti Sains MalaysiaKelantan,
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Bahar, R
, 
Z Zulkafli

Z Zulkafli

  • School of Medical Sciences, Universiti Sains MalaysiaKelantan,
  • Hospital USM, Universiti Sains MalaysiaKelantan,
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Zulkafli, Z
, 
RH Zulkeflee

RH Zulkeflee

  • School of Medical Sciences, Universiti Sains MalaysiaKelantan,
  • Hospital USM, Universiti Sains MalaysiaKelantan,
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Zulkeflee, RH
, 
MN Hassan

MN Hassan

  • School of Medical Sciences, Universiti Sains MalaysiaKelantan,
  • Hospital USM, Universiti Sains MalaysiaKelantan,
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Hassan, MN
, 
S Wan Ab Rahman Wan

S Wan Ab Rahman Wan

  • Hospital USM, Universiti Sains MalaysiaKelantan,
  • School of Dental Sciences, Universiti Sains Malaysia
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Rahman Wan, S Wan Ab
, 
NH M Noor

NH M Noor

  • School of Medical Sciences, Universiti Sains MalaysiaKelantan,
  • Hospital USM, Universiti Sains MalaysiaKelantan,
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Noor, NH M
, 
M Ramli

M Ramli

  • School of Medical Sciences, Universiti Sains MalaysiaKelantan,
  • Hospital USM, Universiti Sains MalaysiaKelantan,
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Ramli, M
, 
A Hussin

A Hussin

  • School of Medical Sciences, Universiti Sains MalaysiaKelantan,
  • Hospital USM, Universiti Sains MalaysiaKelantan,
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Hussin, A
, 
AD Abdullah

AD Abdullah

  • School of Medical Sciences, Universiti Sains MalaysiaKelantan,
  • Hospital USM, Universiti Sains MalaysiaKelantan,
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Abdullah, AD
, 
S Iberahim

S Iberahim

  • School of Medical Sciences, Universiti Sains MalaysiaKelantan,
  • Hospital USM, Universiti Sains MalaysiaKelantan,
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Iberahim, S
, 
M Abdullah

M Abdullah

  • School of Medical Sciences, Universiti Sains MalaysiaKelantan,
  • Hospital USM, Universiti Sains MalaysiaKelantan,
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Abdullah, M
 and 
S M Yusoff

S M Yusoff

  • School of Medical Sciences, Universiti Sains MalaysiaKelantan,
  • Hospital USM, Universiti Sains MalaysiaKelantan,
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Yusoff, S M
  
Open Access | Sep 06, 2024
Novel DGAT1 Mutations Identified in Congenital Diarrheal Disorder 7: A Case Report with Therapeutic Experience
C Shi

C Shi

Department of Pediatrics, The Fourth Affiliated Hospital of China Medical UniversityShenyang, China
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Shi, C
, 
XL Liu

XL Liu

Department of Clinical Genetics, Shengjing Hospital of China Medical UniversityShenyang, China
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Liu, XL
, 
XN Li

XN Li

Department of Pediatrics, The Fourth Affiliated Hospital of China Medical UniversityShenyang, China
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Li, XN
 and 
YJ Zhao

YJ Zhao

Department of Pediatrics, Shengjing Hospital of China Medical UniversityShenyang, China
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Zhao, YJ
  

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