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Balkan Journal of Medical Genetics

Volume 27 (2024): Issue 2 (December 2024)

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11 Articles
Open Access | Mar 06, 2025
CREBBP is a Major Prognostic Biomarker for Relapse in Childhood B-cell Acute Lymphoblastic Leukemia: A National Study of Unselected Cohort
E Krstevska Bozhinovikj

E Krstevska Bozhinovikj

Center for Biomolecular Pharmaceutical Analyses, Faculty of Pharmacy, University Ss. Cyril and Methodius in SkopjeSkopje, N. Macedonia
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Krstevska Bozhinovikj, E
, 
N Matevska-Geshkovska

N Matevska-Geshkovska

Center for Biomolecular Pharmaceutical Analyses, Faculty of Pharmacy, University Ss. Cyril and Methodius in SkopjeSkopje, N. Macedonia
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Matevska-Geshkovska, N
, 
M Staninova Stojovska

M Staninova Stojovska

Center for Biomolecular Pharmaceutical Analyses, Faculty of Pharmacy, University Ss. Cyril and Methodius in SkopjeSkopje, N. Macedonia
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Staninova Stojovska, M
, 
E Gjorgievska

E Gjorgievska

Center for Biomolecular Pharmaceutical Analyses, Faculty of Pharmacy, University Ss. Cyril and Methodius in SkopjeSkopje, N. Macedonia
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Gjorgievska, E
, 
A Jovanovska

A Jovanovska

University Clinic for Pediatric diseases, Faculty of Medicine, University Ss. Cyril and Methodius in SkopjeSkopje, N. Macedonia
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Jovanovska, A
, 
S Kocheva

S Kocheva

University Clinic for Pediatric diseases, Faculty of Medicine, University Ss. Cyril and Methodius in SkopjeSkopje, N. Macedonia
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Kocheva, S
 and 
A Dimovski

A Dimovski

  • Center for Biomolecular Pharmaceutical Analyses, Faculty of Pharmacy, University Ss. Cyril and Methodius in SkopjeSkopje, N. Macedonia
  • Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and ArtsSkopje, N. Macedonia
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Dimovski, A
  
Open Access | Mar 06, 2025
Chromosomal Microarray in Children Born Small for Gestational Age – Single Center Experience
D Perović

D Perović

Institute of Human Genetics, Faculty of Medicine, University of BelgradeSerbia
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Perović, D
, 
P Barzegar

P Barzegar

Faculty of Medicine, University of BelgradeSerbia
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Barzegar, P
, 
T Damnjanović

T Damnjanović

Institute of Human Genetics, Faculty of Medicine, University of BelgradeSerbia
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Damnjanović, T
, 
B Jekić

B Jekić

Institute of Human Genetics, Faculty of Medicine, University of BelgradeSerbia
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Jekić, B
, 
M Grk

M Grk

Institute of Human Genetics, Faculty of Medicine, University of BelgradeSerbia
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Grk, M
, 
M Dušanović Pjević

M Dušanović Pjević

Institute of Human Genetics, Faculty of Medicine, University of BelgradeSerbia
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Dušanović Pjević, M
, 
D Cvetković

D Cvetković

Faculty of Biology, University of BelgradeSerbia
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Cvetković, D
, 
A Đuranović Uklein

A Đuranović Uklein

Institute of Human Genetics, Faculty of Medicine, University of BelgradeSerbia
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Đuranović Uklein, A
, 
N Stojanovski

N Stojanovski

Institute of Human Genetics, Faculty of Medicine, University of BelgradeSerbia
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Stojanovski, N
, 
M Rašić

M Rašić

Institute of Human Genetics, Faculty of Medicine, University of BelgradeSerbia
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Rašić, M
, 
I Novaković

I Novaković

Institute of Human Genetics, Faculty of Medicine, University of BelgradeSerbia
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Novaković, I
, 
B Elhayani

B Elhayani

Faculty of Medicine, University of BelgradeSerbia
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Elhayani, B
 and 
N Maksimović

N Maksimović

Institute of Human Genetics, Faculty of Medicine, University of BelgradeSerbia
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Maksimović, N
  
Open Access | Mar 06, 2025
Delineation of Partial Chromosomal Abnormalities in Early Pregnancy Losses
Gj Bozhinovski

Gj Bozhinovski

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

M Terzikj

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

K Kubelka-Sabit

  • Clinical Hospital “Acibadem Sistina“Skopje, North Macedonia
  • Faculty of Medical Sciences, University ”Goce Delcev”Stip, 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 Arts, Skopje, North MacedoniaSkopje, North Macedonia
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Plaseska-Karanfilska, D
  
Open Access | Mar 06, 2025
A Pilot Study of ANXA2, MED12, CALM1 and MAPK1 Gene Variants in Primary Hyperparathyroidism
A Chorti

A Chorti

First Propedeutic Department of Surgery, AHEPA University Hospital, Faculty of Medicine, School of Health Sciences, Aristotle UniversityThessaloniki, Greece
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Chorti, A
, 
C Achilla

C Achilla

Laboratory of Medical Biology - Genetics, Faculty of Medicine, School of Health Sciences, Aristotle UniversityThessaloniki, Greece
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Achilla, C
, 
A Siasiaridis

A Siasiaridis

Laboratory of Medical Biology - Genetics, Faculty of Medicine, School of Health Sciences, Aristotle UniversityThessaloniki, Greece
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Siasiaridis, A
, 
I Aristeidis

I Aristeidis

First Propedeutic Department of Surgery, AHEPA University Hospital, Faculty of Medicine, School of Health Sciences, Aristotle UniversityThessaloniki, Greece
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Aristeidis, I
, 
A Cheva

A Cheva

Laboratory of Pathology, Faculty of Medicine, School of Health Sciences, Aristotle UniversityThessaloniki, Greece
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Cheva, A
, 
Papavramidis T Theodosios

Papavramidis T Theodosios

First Propedeutic Department of Surgery, AHEPA University Hospital, Faculty of Medicine, School of Health Sciences, Aristotle UniversityThessaloniki, Greece
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Theodosios, Papavramidis T
 and 
A Chatzikyriakidou

A Chatzikyriakidou

  • Laboratory of Medical Biology - Genetics, Faculty of Medicine, School of Health Sciences, Aristotle UniversityThessaloniki, Greece
  • Genetics Unit, “Papageorgiou” General Hospital of Thessaloniki, Faculty of Medicine, School of Health Sciences, Aristotle UniversityThessaloniki, Greece
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Chatzikyriakidou, A
  
Open Access | Mar 06, 2025
Investigation of TLR4 Polymorphism in Children with Vesicoureteral Reflux and Renal Scarring
NM Sav

NM Sav

Department of Pediatric Nephrology, Duzce UniversityDuzce, Turkey
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Sav, NM
, 
R Eroz

R Eroz

Department of Medical Genetics, Aksaray UniversityAksaray, Turkey
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Eroz, R
, 
Duran N Kalay

Duran N Kalay

Department of Pediatrics, Duzce Atatürk Devlet HastanesiDuzce, Turkey
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Kalay, Duran N
, 
O Kilicaslan

O Kilicaslan

Department of Pediatric Infection, Prof. Dr. Cemil Tascioglu City HospitalIstanbul, Turkey
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Kilicaslan, O
 and 
Karaca S Erisen

Karaca S Erisen

Department of Pediatric Endocrinology, S.B. Keçiören Eğitim ve Araştırma HastanesiAnkara, Turkey
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Erisen, Karaca S
  
Open Access | Mar 06, 2025
Next-Generation Sequencing Infertility Panel in Turkey: First Results
E Ikbal Atli

E Ikbal Atli

Trakya University, Faculty of Medicine, Department of Medical GeneticsEdirne, Turkey
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Ikbal Atli, E
, 
S Yalcintepe

S Yalcintepe

Trakya University, Faculty of Medicine, Department of Medical GeneticsEdirne, Turkey
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Yalcintepe, S
, 
E Atli

E Atli

Trakya University, Faculty of Medicine, Department of Medical GeneticsEdirne, Turkey
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Atli, E
, 
S Demir

S Demir

Trakya University, Faculty of Medicine, Department of Medical GeneticsEdirne, Turkey
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Demir, S
 and 
H Gurkan

H Gurkan

Trakya University, Faculty of Medicine, Department of Medical GeneticsEdirne, Turkey
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Gurkan, H
  
Open Access | Mar 06, 2025
Interleukin-1β and Tumor Necrosis Factor-α Gene Polymorphisms in Systemic Sclerosis
M.A Hakami

M.A Hakami

Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Al- Quwayiyah, Shaqra UniversityRiyadh, Saudi Arabia
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Hakami, M.A
, 
B.S Alotaibi

B.S Alotaibi

Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Al- Quwayiyah, Shaqra UniversityRiyadh, Saudi Arabia
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Alotaibi, B.S
, 
S.S Alkhalil

S.S Alkhalil

Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Al- Quwayiyah, Shaqra UniversityRiyadh, Saudi Arabia
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Alkhalil, S.S
, 
S Das

S Das

Department of Microbiology, University College of Medical Sciences (University of Delhi) & GTB HospitalDelhi, India
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Das, S
, 
N Nasreen

N Nasreen

Department of Oral Pathology and Microbiology, Divya Jyoti College of Dental Sciences and Research, ModinagarGhaziabad, India
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Nasreen, N
, 
M.A Jeraiby

M.A Jeraiby

Department of Basic Medical Science (Medical Biochemistry), Faculty of Medicine, Jazan UniversityJazan, Saudi Arabia
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Jeraiby, M.A
, 
A Jawed

A Jawed

Department of Nursing, College of Nursing and Health Sciences, Jazan UniversityJazan, Saudi Arabia
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Jawed, A
, 
M Lohani

M Lohani

Department of Nursing, College of Nursing and Health Sciences, Jazan UniversityJazan, Saudi Arabia
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Lohani, M
 and 
S.A Dar

S.A Dar

Department of Nursing, College of Nursing and Health Sciences, Jazan UniversityJazan, Saudi Arabia
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Dar, S.A
  
Open Access | Mar 06, 2025
In Vitro Analysis of AKR1D1 Interactions with Clopidogrel: Effects on Enzyme Activity and Gene Expression
K Shutevska

K Shutevska

University Ss Cyril and Methodius in Skopje, Faculty of Pharmacy, Institute of applied biochemistrySkopje, Republic of North Macedonia
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Shutevska, K
, 
Panovska T Kadifkova

Panovska T Kadifkova

University Ss Cyril and Methodius in Skopje, Faculty of Pharmacy, Institute of applied biochemistrySkopje, Republic of North Macedonia
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Kadifkova, Panovska T
, 
Z Zhivikj

Z Zhivikj

University Ss Cyril and Methodius in Skopje, Faculty of Pharmacy, Institute of applied biochemistrySkopje, Republic of North Macedonia
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Zhivikj, Z
 and 
Nestorovska A Kapedanovska

Nestorovska A Kapedanovska

University Ss Cyril and Methodius in Skopje, Faculty of Pharmacy, Institute of pharmaceutical chemistrySkopje, Republic of North Macedonia
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Kapedanovska, Nestorovska A
  
Open Access | Mar 06, 2025
Association of CYP2C19*2 c.681G>A (rs4244285) Loss-of-function Allele with Cardiovascular Disease Risk in the Kosovo Population
N Elshani

N Elshani

Faculty of Pharmacy, Alma Mater Europaea Campus College “REZONANCA”, Glloku te Shelgjet “Veternik”Prishtina, Republic of Kosovo
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Elshani, N
, 
K Ukella

K Ukella

Faculty of Pharmacy, Alma Mater Europaea Campus College “REZONANCA”, Glloku te Shelgjet “Veternik”Prishtina, Republic of Kosovo
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Ukella, K
, 
Stojovska M Staninova

Stojovska M Staninova

University Ss Cyril and Methodius in Skopje, Faculty of Pharmacy, Institute of pharmaceutical chemistrySkopje, Republic of North Macedonia
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Staninova, Stojovska M
, 
Z Naumovska

Z Naumovska

University Ss Cyril and Methodius in Skopje, Faculty of Pharmacy, Institute of pharmaceutical chemistrySkopje, Republic of North Macedonia
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Naumovska, Z
, 
M Kurshumliu

M Kurshumliu

Prolab Laboratory Diagnostics Center, Ulpiana D2Prishtina, Republic of Kosovo
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Kurshumliu, M
, 
D Gorani

D Gorani

University Clinical Center of KosovaPrishtina, Republic of Kosovo
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Gorani, D
 and 
Nestorovska A Kapedanovska

Nestorovska A Kapedanovska

University Ss Cyril and Methodius in Skopje, Faculty of Pharmacy, Institute of pharmaceutical chemistrySkopje, Republic of North Macedonia
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Kapedanovska, Nestorovska A
  
Open Access | Mar 06, 2025
Value of Optical Genome Mapping (OGM) for Diagnostics of Rare Diseases: A Family Case Report
A Kovanda

A Kovanda

  • Clinical Institute of Genomic Medicine, University Medical Centre LjubljanaLjubljana, Slovenia
  • Faculty of Medicine, University of LjubljanaLjubljana, Slovenia
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Kovanda, A
, 
O Miljanović

O Miljanović

Center for Medical Genetic and Immunology, Clinical Center of MontenegroPodgorica, Montenegro
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Miljanović, O
, 
L Lovrečić

L Lovrečić

  • Clinical Institute of Genomic Medicine, University Medical Centre LjubljanaLjubljana, Slovenia
  • Faculty of Medicine, University of LjubljanaLjubljana, Slovenia
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Lovrečić, L
, 
A Maver

A Maver

  • Clinical Institute of Genomic Medicine, University Medical Centre LjubljanaLjubljana, Slovenia
  • Faculty of Medicine, University of LjubljanaLjubljana, Slovenia
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Maver, A
, 
A Hodžić

A Hodžić

  • Clinical Institute of Genomic Medicine, University Medical Centre LjubljanaLjubljana, Slovenia
  • Faculty of Medicine, University of LjubljanaLjubljana, Slovenia
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Hodžić, A
 and 
B Peterlin

B Peterlin

  • Clinical Institute of Genomic Medicine, University Medical Centre LjubljanaLjubljana, Slovenia
  • Faculty of Medicine, University of LjubljanaLjubljana, Slovenia
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Peterlin, B
  
Open Access | Mar 06, 2025
Phenotypic Variability of Cowden Syndrome Within a Single Family: Impact on Diagnosis, Management and Genetic Counselling
N Ilic

N Ilic

Clinical Genetics Outpatient Clinic, Mother and Child Health Care Institute of Serbia “Dr Vukan Cupic”Belgrade, Serbia
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Ilic, N
, 
N Mitrovic

N Mitrovic

Department of Clinical Pathology, Mother and Child Health Care Institute of Serbia “Dr Vukan Cupic”,Belgrade, Serbia
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Mitrovic, N
, 
R Radeta

R Radeta

Department for the Diagnosis and Treatment of Hematological and Oncological Diseases, Mother and Child Health Care Institute of Serbia “Dr Vukan Cupic”Belgrade, Serbia
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Radeta, R
, 
S Krasić

S Krasić

  • Department of Cardiology, Mother and Child Health Care Institute of Serbia “Dr Vukan Cupic”Belgrade, Serbia
  • Faculty of Medicine, Department of Pediatrics, University of BelgradeBelgrade, Serbia
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Krasić, S
, 
V Vukomanović

V Vukomanović

  • Department of Cardiology, Mother and Child Health Care Institute of Serbia “Dr Vukan Cupic”Belgrade, Serbia
  • Faculty of Medicine, Department of Pediatrics, University of BelgradeBelgrade, Serbia
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Vukomanović, V
, 
G Samardzija

G Samardzija

Department of Clinical Pathology, Mother and Child Health Care Institute of Serbia “Dr Vukan Cupic”,Belgrade, Serbia
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Samardzija, G
, 
M Vasic

M Vasic

Department of Plastic and Reconstructive Surgery, Mother and Child Health Institute of Serbia “Dr Vukan Cupic”Belgrade, Serbia
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Vasic, M
, 
A Vlahovic

A Vlahovic

  • Faculty of Medicine, Department of Pediatrics, University of BelgradeBelgrade, Serbia
  • Department of Plastic and Reconstructive Surgery, Mother and Child Health Institute of Serbia “Dr Vukan Cupic”Belgrade, Serbia
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Vlahovic, A
 and 
A Sarajlija

A Sarajlija

  • Clinical Genetics Outpatient Clinic, Mother and Child Health Care Institute of Serbia “Dr Vukan Cupic”Belgrade, Serbia
  • Faculty of Medicine, Department of Pediatrics, University of BelgradeBelgrade, Serbia
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Sarajlija, A
  

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Language:
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Journal Subjects:
Medicine, Basic Medical Science, Basic Medical Science, other
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