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Balkan Journal of Medical Genetics

Tom 22 (2019): Zeszyt 2 (Listopad 2019)

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14 Artykułów

Original Article

Otwarty dostęp | 21 gru 2019
Molecular basis of inherited colorectal carcinomas in the Macedonian population: An update
M Staninova-Stojovska

M Staninova-Stojovska

Center for Biomolecular Pharmaceutical Analyses, UKIM Faculty of Pharmacy, University "Ss. Cyril and Methodius"Skopje, RN Macedonia
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Staninova-Stojovska, M
, 
N Matevska-Geskovska

N Matevska-Geskovska

Center for Biomolecular Pharmaceutical Analyses, UKIM Faculty of Pharmacy, University "Ss. Cyril and Methodius"Skopje, RN Macedonia
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Matevska-Geskovska, N
, 
M Panovski

M Panovski

University Clinic for Abdominal Surgery, UKIM Faculty of Medicine, University "Ss. Cyril and Methodius"Skopje, RN Macedonia
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Panovski, M
, 
B Angelovska

B Angelovska

University Clinic for Radiotherapy and Oncology, UKIM Faculty of Medicine, University "Ss. Cyril and Methodius"Skopje, RN Macedonia
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Angelovska, B
, 
N Mitrevski

N Mitrevski

University Clinic for Radiotherapy and Oncology, UKIM Faculty of Medicine, University "Ss. Cyril and Methodius"Skopje, RN Macedonia
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Mitrevski, N
, 
M Ristevski

M Ristevski

University Clinic for Radiotherapy and Oncology, UKIM Faculty of Medicine, University "Ss. Cyril and Methodius"Skopje, RN Macedonia
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Ristevski, M
, 
R Jovanovic

R Jovanovic

Institute for Pathology, UKIM Faculty of Medicine, University "Ss. Cyril and Methodius"Skopje, RN Macedonia
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Jovanovic, R
 oraz 
AJ Dimovski

AJ Dimovski

  • Center for Biomolecular Pharmaceutical Analyses, UKIM Faculty of Pharmacy, University "Ss. Cyril and Methodius"Skopje, RN Macedonia
  • Research Center for Genetic Engineering and Biotechnology "Georgi D. Efremov", Macedonian Academy of Sciences and ArtsSkopje, RN Macedonia
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Dimovski, AJ
  
Otwarty dostęp | 21 gru 2019
Results of liquid biopsy studies by next generation sequencing in patients with advanced stage non-small cell lung cancer: Single center experience from Turkey
M Buyuksimsek

M Buyuksimsek

Department of Medical Oncology, Çukurova University Faculty of Medicine, Balcali Clinics and HospitalAdana, Turkey
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Buyuksimsek, M
, 
M Togun

M Togun

Department of Internal Medicine, Çukurova University Faculty of Medicine, Balcali Clinics and HospitalAdana, Turkey
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Togun, M
, 
Kara I Oguz

Kara I Oguz

Department of Medical Oncology, Çukurova University Faculty of Medicine, Balcali Clinics and HospitalAdana, Turkey
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Oguz, Kara I
, 
A Bisgin

A Bisgin

  • Medical Genetics Department of Balcali Hospital and Clinics and University Faculty of MedicineAdana, Turkey
  • Çukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center)Adana, Turkey
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Bisgin, A
, 
I Boga

I Boga

Çukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center)Adana, Turkey
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Boga, I
, 
M Tohumcuoglu

M Tohumcuoglu

Department of Medical Oncology, Çukurova University Faculty of Medicine, Balcali Clinics and HospitalAdana, Turkey
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Tohumcuoglu, M
, 
A Ogul

A Ogul

Department of Medical Oncology, Çukurova University Faculty of Medicine, Balcali Clinics and HospitalAdana, Turkey
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Ogul, A
, 
Yetisir A Evren

Yetisir A Evren

Department of Medical Oncology, Çukurova University Faculty of Medicine, Balcali Clinics and HospitalAdana, Turkey
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Evren, Yetisir A
, 
B Sahin

B Sahin

Department of Medical Oncology, Çukurova University Faculty of Medicine, Balcali Clinics and HospitalAdana, Turkey
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Sahin, B
, 
HE Sumbul

HE Sumbul

Department of Internal Medicine, University of Health Sciences, Adana Health Practice and Research CenterAdana, Turkey
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Sumbul, HE
 oraz 
C Mirili

C Mirili

Department of Medical Oncology Ataturk University Faculty of MedicineErzurum, Turkey
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Mirili, C
  
Otwarty dostęp | 21 gru 2019
TWIST1 Gene expression as a biomarker for predicting primary doxorubicin resistance in breast cancer
S Demir

S Demir

  • Eskişehir Osmangazi University Faculty of Medicine Department of Medical GeneticsEskişehir, Turkey
  • Trakya University, Faculty of Medicine, Department of Medical GeneticsEdirne, Turkey
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Demir, S
, 
MH Müslümanoğlu

MH Müslümanoğlu

Yıldız Technical University Faculty of Science and Literature Department of Molecular Biology and GeneticsIstanbul, Turkey
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Müslümanoğlu, MH
, 
M Müslümanoğlu

M Müslümanoğlu

Bezmialem University Faculty of Medicine Department of General SurgeryIstanbul, Turkey
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Müslümanoğlu, M
, 
S Başaran

S Başaran

Istanbul University Faculty of Medicine Department of Medical GeneticsIstanbul, Turkey
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Başaran, S
, 
ZZ Çalay

ZZ Çalay

Istanbul University Cerrahpaşa Medical Faculty Department of PathologyIstanbul, Turkey
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Çalay, ZZ
, 
A Aydıner

A Aydıner

Istanbul University Faculty of Medicine Department of Medical OncologyIstanbul, Turkey
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Aydıner, A
, 
U Vogt

U Vogt

European Laboratory Association ELAIbbenbueren, Germany
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Vogt, U
, 
T Çakır

T Çakır

Gebze Technical University Faculty of Engineering Department of BioengineeringIstanbul, Turkey
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Çakır, T
, 
H Kadıoğlu

H Kadıoğlu

Medicana Hospital, Department of General Surgery, Bahçelievlerİstanbul, Turkey
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Kadıoğlu, H
 oraz 
S Artan

S Artan

Eskişehir Osmangazi University Faculty of Medicine Department of Medical GeneticsEskişehir, Turkey
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Artan, S
  
Otwarty dostęp | 21 gru 2019
Evaluation of the JAK2V617F mutational burden in patients with philadelphia chromosome negative myeloproliferative neoplasms: A single-center experience
M Popova-Labachevska

M Popova-Labachevska

University Clinic of Hematology, UKIM-Faculty of Medicine, University “Ss Cyril and Methodius,”Skopje, RN Macedonia
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Popova-Labachevska, M
, 
I Panovska-Stavridis

I Panovska-Stavridis

University Clinic of Hematology, UKIM-Faculty of Medicine, University “Ss Cyril and Methodius,”Skopje, RN Macedonia
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Panovska-Stavridis, I
, 
A Eftimov

A Eftimov

Center for Biomolecular Pharmaceutical Analyses, UKIM-Faculty of Pharmacy, University “Ss Cyril and Methodius,”Skopje, RN Macedonia
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Eftimov, A
, 
Nestorovska A Kapedanovska

Nestorovska A Kapedanovska

Center for Biomolecular Pharmaceutical Analyses, UKIM-Faculty of Pharmacy, University “Ss Cyril and Methodius,”Skopje, RN Macedonia
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Kapedanovska, Nestorovska A
, 
L Cevreska

L Cevreska

University Clinic of Hematology, UKIM-Faculty of Medicine, University “Ss Cyril and Methodius,”Skopje, RN Macedonia
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Cevreska, L
, 
M Ivanovski

M Ivanovski

University Clinic of Hematology, UKIM-Faculty of Medicine, University “Ss Cyril and Methodius,”Skopje, RN Macedonia
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Ivanovski, M
, 
N Ridova

N Ridova

University Clinic of Hematology, UKIM-Faculty of Medicine, University “Ss Cyril and Methodius,”Skopje, RN Macedonia
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Ridova, N
, 
S Trajkova

S Trajkova

University Clinic of Hematology, UKIM-Faculty of Medicine, University “Ss Cyril and Methodius,”Skopje, RN Macedonia
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Trajkova, S
 oraz 
AJ Dimovski

AJ Dimovski

Center for Biomolecular Pharmaceutical Analyses, UKIM-Faculty of Pharmacy, University “Ss Cyril and Methodius,”Skopje, RN Macedonia
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Dimovski, AJ
  
Otwarty dostęp | 21 gru 2019
Association of variants in the CP, ATOX1 and COMMD1 genes with Wilson disease symptoms in Latvia
A Zarina

A Zarina

  • Scientific Laboratory of Molecular Genetics, Rīga Stradiņš UniversityRiga, Latvia
  • Department of Biology and Microbiology, Rīga Stradiņš UniversityRiga, Latvia
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Zarina, A
, 
I Tolmane

I Tolmane

  • Riga East Clinical University Hospital, stationary “Latvian Centre of Infectious Diseases”Riga, Latvia
  • Faculty of Medicine, University of LatviaRiga, Latvia
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Tolmane, I
, 
Z Krumina

Z Krumina

Department of Biology and Microbiology, Rīga Stradiņš UniversityRiga, Latvia
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Krumina, Z
, 
AI Tutane

AI Tutane

Scientific Laboratory of Molecular Genetics, Rīga Stradiņš UniversityRiga, Latvia
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Tutane, AI
 oraz 
L Gailite

L Gailite

Scientific Laboratory of Molecular Genetics, Rīga Stradiņš UniversityRiga, Latvia
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Gailite, L
  
Otwarty dostęp | 21 gru 2019
Association of genetic polymorphisms in the Matrix Gla Protein (MGP) gene with coronary artery disease and serum mgp levels
S Karsli-Ceppioglu

S Karsli-Ceppioglu

Department of Pharmaceutical Toxicology, Faculty of Pharmacy, Marmara Universityİstanbul, Turkey
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Karsli-Ceppioglu, S
, 
S Yazar

S Yazar

Department of Pharmaceutical Toxicology, Faculty of Pharmacy, Yeni Yuzyil Universityİstanbul, Turkey
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Yazar, S
, 
Y Keskin

Y Keskin

Department of Public Health, School of Medicine, Marmara Universityİstanbul, Turkey
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Keskin, Y
, 
M Karaca

M Karaca

Department of Cardiology, Siyami Ersek Cardiovascular and Thoracic Surgery Center, Training and Research Hospitalİstanbul, Turkey
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Karaca, M
, 
NE Luleci

NE Luleci

Department of Public Health, School of Medicine, Marmara Universityİstanbul, Turkey
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Luleci, NE
 oraz 
T Yurdun

T Yurdun

Department of Pharmaceutical Toxicology, Faculty of Pharmacy, Marmara Universityİstanbul, Turkey
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Yurdun, T
  
Otwarty dostęp | 21 gru 2019
Chronic obstructive pulmonary disease risk and smoking cessation changes induced by CHRNA5-A3 and CHRNB3-A6 variation in a Chinese male population
L Zhao

L Zhao

Department of Clinical Laboratory, Qingdao Municipal Hospital, Qingdao UniversityQingdao, People’s Republic of China
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Zhao, L
, 
L-Y Zou

L-Y Zou

Intensive Care Unit, The First Affiliated Hospital of Gannan Medical CollegeGanzhou, People’s Republic of China
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Zou, L-Y
, 
B-F Cheng

B-F Cheng

Department of Respiratory and Critical Care, Yangquan Coalmine Group General HospitalYangquan, People’s Republic of China
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Cheng, B-F
, 
X-J Yu

X-J Yu

Department of Central Laboratory, Qingdao Municipal Hospital, Qingdao UniversityQindao, People’s Republic of China
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Yu, X-J
, 
J-H Zou

J-H Zou

Center of Diseases Control of Qinegdao Shi-Bei DistrictQingdao, People’s Republic of China
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Zou, J-H
 oraz 
W Han

W Han

Department of Respiratory and Critical Care II, Qingdao Municipal Hospital, Qingdao UniversityQingdao, People’s Republic of China
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Han, W
  
Otwarty dostęp | 21 gru 2019
Association of VDR gene variant (rs1544410) with type 2 diabetes in a Pakistani cohort
A Khan

A Khan

Department of Biotechnology, Abdul Wali Khan University MardanMardan, Pakistan
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Khan, A
, 
S Khan

S Khan

Department of Rheumatology, Lady Ready Hospital PeshawarPeshawar, Pakistan
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Khan, S
, 
A Aman

A Aman

Department of Biotechnology, Abdul Wali Khan University MardanMardan, Pakistan
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Aman, A
, 
Y Ali

Y Ali

Department of Biotechnology, Abdul Wali Khan University MardanMardan, Pakistan
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Ali, Y
, 
M Jamal

M Jamal

Deparmetn of Microbiology, Abdul Wali Khan University MardanMardan, Pakistan
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Jamal, M
, 
B Rahman

B Rahman

Department of Biotechnology, Faculty of Biological Sciences, University of MalakandMalakand District, Pakistan
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Rahman, B
, 
M Ahmad

M Ahmad

Department of Biotechnology, Faculty of Biological Sciences, University of MalakandMalakand District, Pakistan
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Ahmad, M
, 
M Aasim

M Aasim

Department of Biotechnology, Faculty of Biological Sciences, University of MalakandMalakand District, Pakistan
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Aasim, M
, 
F Jalil

F Jalil

Department of Biotechnology, Abdul Wali Khan University MardanMardan, Pakistan
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Jalil, F
 oraz 
AA Shah

AA Shah

Department of Biotechnology, Faculty of Biological Sciences, University of MalakandMalakand District, Pakistan
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Shah, AA
  

Case Report

Otwarty dostęp | 21 gru 2019
Clinical next generation sequencing reveals an H3F3A gene as a new potential gene candidate for microcephaly associated with severe developmental delay, intellectual disability and growth retardation
A Maver

A Maver

Clinical Institute of Genomic Medicine, University Medical Center LjubljanaLjubljana, Slovenia
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Maver, A
, 
G Čuturilo

G Čuturilo

  • Faculty of Medicine, University of BelgradeBelgrade, Serbia
  • Department of Clinical Genetics, University Children’s HospitalBelgrade, Serbia
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Čuturilo, G
, 
Stojanović J Ruml

Stojanović J Ruml

Department of Clinical Genetics, University Children’s HospitalBelgrade, Serbia
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Ruml, Stojanović J
 oraz 
B Peterlin

B Peterlin

Clinical Institute of Genomic Medicine, University Medical Center LjubljanaLjubljana, Slovenia
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Peterlin, B
  
Otwarty dostęp | 21 gru 2019
Novel genotype in two siblings with 5-α-reductase 2 deficiency: Different clinical course due to the time of diagnosis
M Kocova

M Kocova

University Pediatric ClinicSkopje, Republic of North Macedonia
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Kocova, M
, 
D Plaseska-Karanfilska

D Plaseska-Karanfilska

Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences and ArtsSkopje, Republic of North Macedonia
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Plaseska-Karanfilska, D
, 
P Noveski

P Noveski

Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences and ArtsSkopje, Republic of North Macedonia
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Noveski, P
 oraz 
M Kuzmanovska

M Kuzmanovska

Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences and ArtsSkopje, Republic of North Macedonia
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Kuzmanovska, M
  
Otwarty dostęp | 21 gru 2019
Infantile Alexander disease with late onset infantile spasms and hypsarrhythmia
J Paprocka

J Paprocka

Department of Paediatric Neurology, School of Medicine, Medical University of SilesiaKatowice, Poland
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Paprocka, J
, 
B Rzepka-Migut

B Rzepka-Migut

Department of Paediatric Neurology, St. Queen Jadwiga’s Regional Clinical HospitalRzeszów, Poland
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Rzepka-Migut, B
, 
N Rzepka

N Rzepka

Department of Paediatric Neurology, St. Queen Jadwiga’s Regional Clinical HospitalRzeszów, Poland
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Rzepka, N
, 
A Jezela-Stanek

A Jezela-Stanek

Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung DiseasesWarsaw, Poland
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Jezela-Stanek, A
 oraz 
E Morava

E Morava

Hayward Genetics Center, Tulane University School of MedicineNew Orleans, USA
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Morava, E
  
Otwarty dostęp | 21 gru 2019
Otopalatodigital syndrome type I: novel characteristics and prenatal manifestations in two siblings
I Joksic

I Joksic

Gynecology and Obstetrics Clinic “Narodni Front”Belgrade, Serbia
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Joksic, I
, 
G Cuturilo

G Cuturilo

  • Faculty of Medicine, University of BelgradeBelgrade, Serbia
  • University Children’s HospitalBelgrade, Serbia
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Cuturilo, G
, 
A Jurisic

A Jurisic

  • Gynecology and Obstetrics Clinic “Narodni Front”Belgrade, Serbia
  • Faculty of Medicine, University of BelgradeBelgrade, Serbia
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Jurisic, A
, 
S Djuricic

S Djuricic

  • Department of Pathology, Institute for Mother and Child Health Care “Dr Vukan Cupic”Belgrade, Serbia
  • School of Medicine, University of BanjalukaBanjaluka, Bosnia and Herzegovina
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Djuricic, S
, 
B Peterlin

B Peterlin

Clinical Institute for Genomic MedicineLjubljana, Slovenia
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Peterlin, B
, 
M Mijovic

M Mijovic

Faculty of Medicine, University of BelgradeBelgrade, Serbia
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Mijovic, M
, 
Orlic N Karadzov

Orlic N Karadzov

  • Gynecology and Obstetrics Clinic “Narodni Front”Belgrade, Serbia
  • Faculty of Medicine, University of BelgradeBelgrade, Serbia
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Karadzov, Orlic N
, 
A Egic

A Egic

  • Gynecology and Obstetrics Clinic “Narodni Front”Belgrade, Serbia
  • Faculty of Medicine, University of BelgradeBelgrade, Serbia
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Egic, A
 oraz 
Z Milovanovic

Z Milovanovic

  • Gynecology and Obstetrics Clinic “Narodni Front”Belgrade, Serbia
  • Faculty of Medicine, University of BelgradeBelgrade, Serbia
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Milovanovic, Z
  
Otwarty dostęp | 21 gru 2019
A Novel splice-site mutation on the MLC1 gene leading to exon 9 skipping and megalencephalic leukoencephalopathy with subcortical cysts in a Turkish patient
A Türkyılmaz

A Türkyılmaz

Department of Medical Genetics, Marmara University School of Medicineİstanbul, Turkey
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Türkyılmaz, A
, 
O Ünver

O Ünver

Department of Pediatric Neurology, Marmara University School of Medicineİstanbul, Turkey
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Ünver, O
, 
G Ekinci

G Ekinci

Department of Neuroradiology, Marmara University School of Medicineİstanbul, Turkey
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Ekinci, G
 oraz 
D Türkdoğan

D Türkdoğan

Department of Pediatric Neurology, Marmara University School of Medicineİstanbul, Turkey
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Türkdoğan, D
  
Otwarty dostęp | 21 gru 2019
A 7-year-old boy with hand tremors and a novel mutation for L-2-hydroxyglutaric aciduria
A Olgac

A Olgac

Department of Pediatric Metabolism and Nutrition, Gazi University HospitalAnkara, Turkey
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Olgac, A
, 
Orgun L Tekin

Orgun L Tekin

Department of Pediatric Neurology, Gazi University HospitalAnkara, Turkey
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Tekin, Orgun L
, 
FS Ezgü

FS Ezgü

Department of Pediatric Metabolism and Nutrition, Gazi University HospitalAnkara, Turkey
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Ezgü, FS
, 
G Biberoǧlu

G Biberoǧlu

Department of Pediatric Metabolism and Nutrition, Gazi University HospitalAnkara, Turkey
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Biberoǧlu, G
 oraz 
L Tümer

L Tümer

Department of Pediatric Metabolism and Nutrition, Gazi University HospitalAnkara, Turkey
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Tümer, L
  

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