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Balkan Journal of Medical Genetics

Volume 21 (2018): Issue 1 (June 2018)

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14 Articles

Original Article

Open Access | Oct 29, 2018
Family history as an important factor for stratifying participants in genetic studies of major depression
B Zalar

B Zalar

University Psychiatric Hospital Ljubljana, Clinical Institute of Medical Genetics, University Medical Center LjubljanaLjubljana, Slovenia
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Zalar, B
, 
A Blatnik

A Blatnik

Department of Family Medicine, Maribor Medical SchoolMaribor, Slovenia
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Blatnik, A
, 
A Maver

A Maver

Department of Family Medicine, Maribor Medical SchoolMaribor, Slovenia
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Maver, A
, 
Z Klemenc-Ketiš

Z Klemenc-Ketiš

Department of Family Medicine, Ljubljana Medical SchoolLjubljana, Slovenia
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Klemenc-Ketiš, Z
 and 
B Peterlin

B Peterlin

Department of Family Medicine, Maribor Medical SchoolMaribor, Slovenia
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Peterlin, B
  
Open Access | Oct 29, 2018
Detecting EGFR mutations in patients with non-small cell lung cancer
ZA Hammoudeh

ZA Hammoudeh

  • Department of Medical Genetics, Medical UniversitySofia, Bulgaria
  • Acibadem City Clinic Tokuda HospitalSofia, Bulgaria
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Hammoudeh, ZA
, 
O Antonova

O Antonova

Department of Medical Genetics, Medical UniversitySofia, Bulgaria
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Antonova, O
, 
R Staneva

R Staneva

  • Department of Medical Genetics, Medical UniversitySofia, Bulgaria
  • Acibadem City Clinic Tokuda HospitalSofia, Bulgaria
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Staneva, R
, 
D Nikolova

D Nikolova

Department of Medical Genetics, Medical UniversitySofia, Bulgaria
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Nikolova, D
, 
Y Kyuchukov

Y Kyuchukov

Acibadem City Clinic Tokuda HospitalSofia, Bulgaria
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Kyuchukov, Y
, 
A Penev

A Penev

Acibadem City Clinic Tokuda HospitalSofia, Bulgaria
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Penev, A
, 
T Mintchev

T Mintchev

Acibadem City Clinic Tokuda HospitalSofia, Bulgaria
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Mintchev, T
, 
V Koleva

V Koleva

Acibadem City Clinic Tokuda HospitalSofia, Bulgaria
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Koleva, V
, 
S Hadjidekova

S Hadjidekova

Department of Medical Genetics, Medical UniversitySofia, Bulgaria
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Hadjidekova, S
 and 
D Toncheva

D Toncheva

  • Department of Medical Genetics, Medical UniversitySofia, Bulgaria
  • Acibadem City Clinic Tokuda HospitalSofia, Bulgaria
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Toncheva, D
  
Open Access | Oct 29, 2018
Analysis of the PPARD gene expression level changes in football players in response to the training cycle
D Domańska-Senderowska

D Domańska-Senderowska

Department of Biomedicine and Genetics, Chair of Biology and Medical Microbiology, Medical University of LodzLodz, Poland
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Domańska-Senderowska, D
, 
A Snochowska

A Snochowska

Department of Biomedicine and Genetics, Chair of Biology and Medical Microbiology, Medical University of LodzLodz, Poland
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Snochowska, A
, 
P Szmigielska

P Szmigielska

Department of Biomedicine and Genetics, Chair of Biology and Medical Microbiology, Medical University of LodzLodz, Poland
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Szmigielska, P
, 
Z Jastrzębski

Z Jastrzębski

Faculty of Tourism and Recreation, Gdansk University of Physical Education and SportGdansk, Poland
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Jastrzębski, Z
, 
A Jegier

A Jegier

Department of Sport Medicine, Medical University of LodzLodz, Poland
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Jegier, A
, 
J Kiszałkiewicz

J Kiszałkiewicz

Department of Biomedicine and Genetics, Chair of Biology and Medical Microbiology, Medical University of LodzLodz, Poland
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Kiszałkiewicz, J
, 
K Dróbka

K Dróbka

Department of Biomedicine and Genetics, Chair of Biology and Medical Microbiology, Medical University of LodzLodz, Poland
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Dróbka, K
, 
J Jastrzębska

J Jastrzębska

Faculty of Tourism and Recreation, Gdansk University of Physical Education and SportGdansk, Poland
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Jastrzębska, J
, 
D Pastuszak-Lewandoska

D Pastuszak-Lewandoska

Department of Biomedicine and Genetics, Chair of Biology and Medical Microbiology, Medical University of LodzLodz, Poland
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Pastuszak-Lewandoska, D
, 
P Cięszczyk

P Cięszczyk

Department of Nutrition, the Jerzy Kukuczka Academy of Physical Education in KrakówKatowice, Poland
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Cięszczyk, P
, 
A Maciejewska-Skrendo

A Maciejewska-Skrendo

Faculty of Physical Education, Gdansk University of Physical, Education and SportGdansk, Poland
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Maciejewska-Skrendo, A
, 
P Zmijewski

P Zmijewski

Faculty of Medicine, University of Information Technology and Management in RzeszowRzeszow, Poland
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Zmijewski, P
 and 
E Brzeziańska-Lasota

E Brzeziańska-Lasota

Department of Biomedicine and Genetics, Chair of Biology and Medical Microbiology, Medical University of LodzLodz, Poland
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Brzeziańska-Lasota, E
  
Open Access | Oct 29, 2018
Association of E-selectin S128R polymorphism with hereditary breast carcinoma susceptibility in Turkish patients without BRCA1/2 germline mutations
K Yararbas

K Yararbas

Department of Medical Genetics, Acibadem Mehmet Ali Aydinlar University Faculty of MedicineIstanbul, Turkey
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Yararbas, K
 and 
PB Atalay

PB Atalay

Department of Medical Biology and Genetics, Maltepe University Faculty of MedicineIstanbul, Turkey
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Atalay, PB
  
Open Access | Oct 29, 2018
ADRB2 gene polymorphisms and salbutamol responsiveness in Serbian children with asthma
N Jovicic

N Jovicic

Department of Pulmonology and Allergology, University Children’s HospitalBelgrade, Serbia
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Jovicic, N
, 
T Babic

T Babic

Laboratory for Molecular Biology, Institute of Molecular Genetics and Genetic Engineering, University of BelgradeBelgrade, Serbia
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Babic, T
, 
S Dragicevic

S Dragicevic

Laboratory for Molecular Biology, Institute of Molecular Genetics and Genetic Engineering, University of BelgradeBelgrade, Serbia
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Dragicevic, S
, 
B Nestorovic

B Nestorovic

  • Department of Pulmonology and Allergology, University Children’s HospitalBelgrade, Serbia
  • Faculty of Medicine, University of BelgradeBelgrade, Serbia
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Nestorovic, B
 and 
A Nikolic

A Nikolic

Laboratory for Molecular Biology, Institute of Molecular Genetics and Genetic Engineering, University of BelgradeBelgrade, Serbia
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Nikolic, A
  
Open Access | Oct 29, 2018
PPAR𝛾 gene and atherosclerosis: Genetic polymorphisms, epigenetics and therapeutic implications
E Grbić

E Grbić

University of Tuzla, Faculty of Medicine, Department of PhysiologyTuzla, Bosnia and Herzegovina
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Grbić, E
, 
A Peterlin

A Peterlin

Institute of Histology and Embryology, Faculty of Medicine University LjubljanaLjubljana, Slovenia
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Peterlin, A
, 
T Kunej

T Kunej

Department of Animal Science, Biotechnical Faculty, University of LjubljanaLjubljana, Slovenia
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Kunej, T
 and 
D Petrovič

D Petrovič

Institute of Histology and Embryology, Faculty of Medicine University LjubljanaLjubljana, Slovenia
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Petrovič, D
  
Open Access | Oct 29, 2018
Clinical variability in two Macedonian families with Arterial tortuosity syndrome
M Kocova

M Kocova

University Pediatric ClinicSkopje, Republic of Macedonia
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Kocova, M
, 
R Kacarska

R Kacarska

University Pediatric ClinicSkopje, Republic of Macedonia
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Kacarska, R
, 
K Kuzevska-Maneva

K Kuzevska-Maneva

University Pediatric ClinicSkopje, Republic of Macedonia
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Kuzevska-Maneva, K
, 
S Prijic

S Prijic

Division of Cardiology, Institute of Mother and ChildBelgrade, Serbia
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Prijic, S
, 
M Lazareska

M Lazareska

Institute of RadiologySkopje, Republic of Macedonia
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Lazareska, M
, 
C Dordoni

C Dordoni

Department of Molecular and Translational Medicine, Division of Biology and Genetics, School of Medicine, University of BresciaBrescia, Italy
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Dordoni, C
, 
M Ritelli

M Ritelli

Department of Molecular and Translational Medicine, Division of Biology and Genetics, School of Medicine, University of BresciaBrescia, Italy
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Ritelli, M
 and 
M Colombi

M Colombi

Department of Molecular and Translational Medicine, Division of Biology and Genetics, School of Medicine, University of BresciaBrescia, Italy
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Colombi, M
  
Open Access | Oct 29, 2018
The mitochondrial tRNAGly T10003C mutation may not be associated with diabetes mellitus
Q Yuan

Q Yuan

Department of Endocrinology and Metabolism, People’s Hospital of Zhengzhou UniversityZhengzhou, People’s Republic of China
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Yuan, Q
, 
ZG Zhao

ZG Zhao

Department of Endocrinology and Metabolism, People’s Hospital of Zhengzhou UniversityZhengzhou, People’s Republic of China
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Zhao, ZG
 and 
HJ Yuan

HJ Yuan

Department of Endocrinology and Metabolism, People’s Hospital of Zhengzhou UniversityZhengzhou, People’s Republic of China
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Yuan, HJ
  
Open Access | Oct 29, 2018
UGT1A1 (TA)n promoter genotype: Diagnostic and population pharmacogenetic marker in Serbia
M Vukovic

M Vukovic

Department for Medical Genetics, University Clinical Centre of the Republic of SrpskaBanja Luka, Bosnia and Hercegovina
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Vukovic, M
, 
N Radlovic

N Radlovic

Department of Gastroenterology and Nutrition, University Children’s Hospital, School of Medicine, University of BelgradeBelgrade, Serbia
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Radlovic, N
, 
Z Lekovic

Z Lekovic

Department of Gastroenterology and Nutrition, University Children’s Hospital, School of Medicine, University of BelgradeBelgrade, Serbia
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Lekovic, Z
, 
K Vucicevic

K Vucicevic

Department of Physiology, Faculty of Medical Sciences, University of KragujevacKragujevac, Serbia
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Vucicevic, K
, 
N Maric

N Maric

Clinic for Children Diseases, University Clinical Centre of the Republic of SrpskaBanja Luka, Bosnia and Hercegovina
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Maric, N
, 
N Kotur

N Kotur

Laboratory for Molecular Biomedicine, Institute of Molecular Genetics and Genetic Engineering, University of BelgradeBelgrade, Serbia
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Kotur, N
, 
V Gasic

V Gasic

Laboratory for Molecular Biomedicine, Institute of Molecular Genetics and Genetic Engineering, University of BelgradeBelgrade, Serbia
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Gasic, V
, 
M Ugrin

M Ugrin

Laboratory for Molecular Biomedicine, Institute of Molecular Genetics and Genetic Engineering, University of BelgradeBelgrade, Serbia
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Ugrin, M
, 
M Stojiljkovic

M Stojiljkovic

Laboratory for Molecular Biomedicine, Institute of Molecular Genetics and Genetic Engineering, University of BelgradeBelgrade, Serbia
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Stojiljkovic, M
, 
L Dokmanovic

L Dokmanovic

Department of Hematology and Oncology, University Children’s Hospital, School of Medicine, University of BelgradeBelgrade, Serbia
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Dokmanovic, L
, 
B Zukic

B Zukic

Laboratory for Molecular Biomedicine, Institute of Molecular Genetics and Genetic Engineering, University of BelgradeBelgrade, Serbia
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Zukic, B
 and 
S Pavlovic

S Pavlovic

Laboratory for Molecular Biomedicine, Institute of Molecular Genetics and Genetic Engineering, University of BelgradeBelgrade, Serbia
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Pavlovic, S
  
Open Access | Oct 29, 2018
Mutation in Phospholipase C, δ1 (PLCD1) gene underlies hereditary leukonychia in a Pashtun family and review of the literature
AK Khan

AK Khan

Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST)Kohat, Pakistan
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Khan, AK
, 
SA Khan

SA Khan

Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST)Kohat, Pakistan
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Khan, SA
, 
Na Muhammad

Na Muhammad

Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST)Kohat, Pakistan
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Muhammad, Na
, 
No Muhammad

No Muhammad

Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST)Kohat, Pakistan
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Muhammad, No
, 
J Ahmad

J Ahmad

Centre of Biotechnology & Microbiology (COBAM), University of PeshawarPeshawar, Pakistan
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Ahmad, J
, 
H Nawaz

H Nawaz

Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST)Kohat, Pakistan
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Nawaz, H
, 
A Nasir

A Nasir

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam UniversityIslamabad, Pakistan
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Nasir, A
, 
S Farman

S Farman

Department of Biochemistry, Abdul Wali Khan UniversityMardan, Pakistan
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Farman, S
 and 
S Khan

S Khan

Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST)Kohat, Pakistan
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Khan, S
  

Letter to the Editor

Open Access | Oct 29, 2018
Problems of unknown significance: Counseling in the era of next generation sequencing
U Fahrioğlu

U Fahrioğlu

Department of Medical Biology, Faculty of Medicine, Near East UniversityNicosia, Cyprus
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Fahrioğlu, U
  

Case Report

Open Access | Oct 29, 2018
Hyperinsulinism-hyperammonemia syndrome in an infant with seizures
A Strajnar

A Strajnar

University Children’s Hospital, University Medical Centre LjubljanaLjubljana, Slovenia
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Strajnar, A
, 
MZ Tansek

MZ Tansek

Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, University Medical Centre LjubljanaLjubljana, Slovenia
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Tansek, MZ
, 
KT Podkrajsek

KT Podkrajsek

  • Unit of Special Laboratory Diagnostics, University Children’s Hospital, University Medical Centre LjubljanaLjubljana, Slovenia
  • Institute of Biochemistry, Faculty of Medicine, University of LjubljanaLjubljana, Slovenia
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Podkrajsek, KT
, 
T Battelino

T Battelino

  • Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, University Medical Centre LjubljanaLjubljana, Slovenia
  • Department of Pediatrics, Faculty of Medicine, University of LjubljanaLjubljana, Slovenia
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Battelino, T
 and 
U Groselj

U Groselj

Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, University Medical Centre LjubljanaLjubljana, Slovenia
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Groselj, U
  
Open Access | Oct 29, 2018
Floating-Harbor syndrome: Presentation of the first Romanian patient with a SRCAP mutation and review of the literature
M Budisteanu

M Budisteanu

  • Professor Dr. Alex Obregia Clinical Hospital of PsychiatryBucharest, Romania
  • Victor Babes National Institute of PathologyBucharest, Romania
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Budisteanu, M
, 
N Bögershausen

N Bögershausen

Institute of Human Genetics, University Medical Center GöttingenGöttingen, Germany
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Bögershausen, N
, 
SM Papuc

SM Papuc

Victor Babes National Institute of PathologyBucharest, Romania
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Papuc, SM
, 
S Moosa

S Moosa

Institute of Human Genetics, University Medical Center GöttingenGöttingen, Germany
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Moosa, S
, 
M Thoenes

M Thoenes

Institute of Human Genetics, University of KölnKöln, Germany
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Thoenes, M
, 
D Riga

D Riga

Professor Dr. Alex Obregia Clinical Hospital of PsychiatryBucharest, Romania
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Riga, D
, 
A Arghir

A Arghir

Victor Babes National Institute of PathologyBucharest, Romania
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Arghir, A
 and 
B Wollnik

B Wollnik

Institute of Human Genetics, University Medical Center GöttingenGöttingen, Germany
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Wollnik, B
  
Open Access | Oct 29, 2018
Acute pre-B lymphoblastic leukemia and congenital anomalies in a child with a de novo 22q11.1q11.22 duplication
M Vaisvilas

M Vaisvilas

Faculty of Medicine, Vilnius UniversityVilnius, Lithuania
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Vaisvilas, M
, 
V Dirse

V Dirse

  • Hematology, Oncology and Transfusion Medicine Center, Vilnius University Hospital Santaros KlinikosVilnius, Lithuania
  • Department of Internal, Family Medicine and Oncology, Institute of Clinical Medicine of the Faculty of Medicine of Vilnius UniversityVilnius, Lithuania
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Dirse, V
, 
B Aleksiuniene

B Aleksiuniene

  • Department of Human and Medical Genetics, Institute of Biomedical Sciences of the Faculty of Medicine of Vilnius UniversityVilnius, Lithuania
  • Center for Medical Genetics, Vilnius University Hospital Santaros KlinikosVilnius, Lithuania
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Aleksiuniene, B
, 
I Tamuliene

I Tamuliene

Center for Pediatric Oncology and Hematology, Children’s Hospital, Affiliate of Vilnius University Hospital Santaros KlinikosVilnius, Lithuania
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Tamuliene, I
, 
L Cimbalistiene

L Cimbalistiene

  • Department of Human and Medical Genetics, Institute of Biomedical Sciences of the Faculty of Medicine of Vilnius UniversityVilnius, Lithuania
  • Center for Medical Genetics, Vilnius University Hospital Santaros KlinikosVilnius, Lithuania
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Cimbalistiene, L
, 
A Utkus

A Utkus

  • Faculty of Medicine, Vilnius UniversityVilnius, Lithuania
  • Center for Medical Genetics, Vilnius University Hospital Santaros KlinikosVilnius, Lithuania
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Utkus, A
 and 
J Rascon

J Rascon

  • Faculty of Medicine, Vilnius UniversityVilnius, Lithuania
  • Center for Pediatric Oncology and Hematology, Children’s Hospital, Affiliate of Vilnius University Hospital Santaros KlinikosVilnius, Lithuania
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Rascon, J
  

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