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Balkan Journal of Medical Genetics

Tom 19 (2016): Zeszyt 2 (Grudzień 2016)

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14 Artykułów

Original Article

Otwarty dostęp | 31 gru 2016
Associations of biochemical changes and maternal traits with mutation 1843 (C>T) in the RYR1 gene as a common cause for porcine stress syndrome
ZT Popovski

ZT Popovski

Department of Biochemistry and Genetic Engineering, Faculty of Agriculture and Food SciencesSkopje, Macedonia
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Popovski, ZT
, 
B Tanaskovska

B Tanaskovska

Department of Biochemistry and Genetic Engineering, Faculty of Agriculture and Food SciencesSkopje, Macedonia
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Tanaskovska, B
, 
E Miskoska-Milevska

E Miskoska-Milevska

Food Department, Faculty of Agriculture and Food SciencesSkopje, Macedonia
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Miskoska-Milevska, E
, 
S Andonov

S Andonov

Livestock Department, Faculty of Agriculture and Food SciencesSkopje, Macedonia
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Andonov, S
 oraz 
S Domazetovska

S Domazetovska

Faculty of Medicine, Institute of Clinical BiochemistrySkopje, Macedonia
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Domazetovska, S
  
Otwarty dostęp | 31 gru 2016
The genetic background of Southern Iranian couples before marriage
A Nariman

A Nariman

Department of Human Genetics, Behbahan Faculty of Medical SciencesBehbahan, Iran
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Nariman, A
, 
MR Sobhan

MR Sobhan

Department of Orthopedics, Shahid Sadoughi University of Medical SciencesYazd, Iran
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Sobhan, MR
, 
M Savaei

M Savaei

Department of Anesthesiology, Behbahan Faculty of Medical SciencesBehbahan, Iran
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Savaei, M
, 
E Aref-Eshghi

E Aref-Eshghi

Faculty of Medicine, Memorial University of NewfoundlandSt. John’s, Canada
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Aref-Eshghi, E
, 
R Nourinejad

R Nourinejad

Department of Human Genetics, Behbahan Faculty of Medical SciencesBehbahan, Iran
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Nourinejad, R
, 
M Manoochehri

M Manoochehri

School of Medicine, Shahroud University of Medical SciencesShahroud, Iran
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Manoochehri, M
, 
S Ghahremani

S Ghahremani

Department of Clinical Psychology, Iran University of Medical SciencesTehran, Iran
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Ghahremani, S
, 
F Daliri

F Daliri

Department of Psychology, Islamic Azad UniversityMarvdasht, Iran
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Daliri, F
 oraz 
K Daliri

K Daliri

Department of Human Genetics, Behbahan Faculty of Medical SciencesBehbahan, Iran
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Daliri, K
  
Otwarty dostęp | 31 gru 2016
Susceptibility to oral squamous cell carcinoma: correlation with variants of CYP1A1-MspI, GSTT1, GSTM1, ALDH2, EC-SOD and Lifestyle factors
T-T Dong

T-T Dong

General Hospital of Daqing Oil FieldDaqing, China
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Dong, T-T
, 
L-J Wang

L-J Wang

General Hospital of Daqing Oil FieldDaqing, China
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Wang, L-J
, 
L-Z Liu

L-Z Liu

General Hospital of Daqing Oil FieldDaqing, China
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Liu, L-Z
 oraz 
S-N Ma

S-N Ma

General Hospital of Daqing Oil FieldDaqing, China
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Ma, S-N
  
Otwarty dostęp | 31 gru 2016
Polymorphism of the IL13 gene may be associated with Uterine leiomyomas in Slovenian women
J Krsteski

J Krsteski

Centre for Human Molecular Genetics and Pharmacogenomics, Faculty of Medicine, University of MariborMaribor, Slovenia
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Krsteski, J
, 
S Jurgec

S Jurgec

  • Centre for Human Molecular Genetics and Pharmacogenomics, Faculty of Medicine, University of MariborMaribor, Slovenia
  • Laboratory for Biochemistry, Molecular Biology and Genomics, Faculty for Chemistry and Chemical Engineering, University of MariborMaribor, Slovenia
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Jurgec, S
, 
M Pakiž

M Pakiž

Department of General Gynaecology and Gynaecological Urology, University Clinical Centre MariborMaribor, Slovenia
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Pakiž, M
, 
I But

I But

Department of General Gynaecology and Gynaecological Urology, University Clinical Centre MariborMaribor, Slovenia
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But, I
 oraz 
U Potočnik

U Potočnik

  • Centre for Human Molecular Genetics and Pharmacogenomics, Faculty of Medicine, University of MariborMaribor, Slovenia
  • Laboratory for Biochemistry, Molecular Biology and Genomics, Faculty for Chemistry and Chemical Engineering, University of MariborMaribor, Slovenia
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Potočnik, U
  
Otwarty dostęp | 31 gru 2016
Mutational analysis of mitochondrial tRNA genes in patients with lung cancer
ZF He

ZF He

  • First Affiliated Hospital, Soochow UniversitySuzhou, China
  • Department of Cardio-Thoracic Surgery, First Affiliated Hospital, Wenzhou Medical UniversityWenzhou, China
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He, ZF
, 
LC Zheng

LC Zheng

Department of Cardio-Thoracic Surgery, First Affiliated Hospital, Wenzhou Medical UniversityWenzhou, China
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Zheng, LC
, 
DY Xie

DY Xie

Department of Cardio-Thoracic Surgery, First Affiliated Hospital, Wenzhou Medical UniversityWenzhou, China
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Xie, DY
, 
SS Yu

SS Yu

College of Laboratory Medicine and Life Sciences, Wenzhou Medical UniversityWenzhou, China
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Yu, SS
 oraz 
J Zhao

J Zhao

First Affiliated Hospital, Soochow UniversitySuzhou, China
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Zhao, J
  
Otwarty dostęp | 31 gru 2016
Polymorphisms of α1-antitrypsin and Interleukin-6 genes and the progression of hepatic cirrhosis in patients with a hepatitis C virus infection
T Motawi

T Motawi

Department of Biochemistry, Faculty of Pharmacy, Cairo UniversityCairo, Egypt
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Motawi, T
, 
OG Shaker

OG Shaker

Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Cairo UniversityCairo, Egypt
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Shaker, OG
, 
RM Hussein

RM Hussein

Department of Biochemistry, Faculty of Pharmacy, Beni-Suef UniversityBeni-Suef, Egypt
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Hussein, RM
 oraz 
M Houssen

M Houssen

Department of Biochemistry, Faculty of Pharmacy, Damanhour UniversityDamanhour, Egypt
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Houssen, M
  
Otwarty dostęp | 31 gru 2016
Polymorphism of angiotensin-converting enzyme (rs4340) and diabetic nephropathy in Caucasians with type 2 diabetes mellitus
M Šeruga

M Šeruga

Department of Internal Medicine, General Hospital Murska SobotaMurska Sobota, Slovenia
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Šeruga, M
, 
J Makuc

J Makuc

Department of Internal Medicine, General Hospital Slovenj GradecSlovenj Gradec, Slovenia
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Makuc, J
, 
M Završnik

M Završnik

Department of Endocrinology and Diabetology, University Medical Centre Maribor, Division of Internal MedicineMaribor, Slovenia
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Završnik, M
, 
I Cilenšek

I Cilenšek

Institute of Histology and Embryology, Faculty of Medicine, University of LjubljanaLjubljana, Slovenia
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Cilenšek, I
, 
R Ekart

R Ekart

Department of Haemodialysis, University Medical Centre Maribor, Division of Internal MedicineMaribor, Slovenia
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Ekart, R
 oraz 
D Petrovič

D Petrovič

Institute of Histology and Embryology, Faculty of Medicine, University of LjubljanaLjubljana, Slovenia
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Petrovič, D
  
Otwarty dostęp | 31 gru 2016
The MEFV gene pathogenic variants and phenotype-genotype correlation in children with familial Mediterranean fever in the Çanakkale population
F Battal

F Battal

Department of Pediatrics, Faculty of Medicine, Çanakkale Onsekiz Mart UniversityÇanakkale, Turkey
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Battal, F
, 
F Silan

F Silan

Department of Medical Genetics, Faculty of Medicine, Çanakkale Onsekiz Mart UniversityÇanakkale, Turkey
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Silan, F
, 
N Topaloğlu

N Topaloğlu

Department of Pediatrics, Faculty of Medicine, Çanakkale Onsekiz Mart UniversityÇanakkale, Turkey
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Topaloğlu, N
, 
H Aylanç

H Aylanç

Department of Pediatrics, Faculty of Medicine, Çanakkale Onsekiz Mart UniversityÇanakkale, Turkey
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Aylanç, H
, 
Ş Yıldırım

Ş Yıldırım

Department of Pediatrics, Faculty of Medicine, Çanakkale Onsekiz Mart UniversityÇanakkale, Turkey
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Yıldırım, Ş
, 
F Köksal Binnetoğlu

F Köksal Binnetoğlu

Department of Pediatrics, Faculty of Medicine, Çanakkale Onsekiz Mart UniversityÇanakkale, Turkey
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Köksal Binnetoğlu, F
, 
M Tekin

M Tekin

Department of Pediatrics, Faculty of Medicine, Çanakkale Onsekiz Mart UniversityÇanakkale, Turkey
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Tekin, M
, 
N Kaymaz

N Kaymaz

Department of Pediatrics, Faculty of Medicine, Çanakkale Onsekiz Mart UniversityÇanakkale, Turkey
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Kaymaz, N
 oraz 
O Ozdemir

O Ozdemir

  • Department of Medical Genetics, Faculty of Medicine, Çanakkale Onsekiz Mart UniversityÇanakkale, Turkey
  • Department of Medical Genetics, Faculty of Medicine, Cumhuriyet UniversitySivas, Turkey
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Ozdemir, O
  
Otwarty dostęp | 31 gru 2016
Mutation analysis of the NRXN1 gene in autism spectrum disorders
H Onay

H Onay

Department of Medical Genetics, Ege University School of MedicineIzmir, Turkey
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Onay, H
, 
D Kacamak

D Kacamak

Department of Child and Adolescent Psychiatry, Ege University School of MedicineIzmir, Turkey
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Kacamak, D
, 
AN Kavasoglu

AN Kavasoglu

Department of Medical Genetics, Ege University School of MedicineIzmir, Turkey
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Kavasoglu, AN
, 
B Akgun

B Akgun

Department of Medical Genetics, Ege University School of MedicineIzmir, Turkey
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Akgun, B
, 
M Yalcinli

M Yalcinli

Department of Medical Genetics, Ege University School of MedicineIzmir, Turkey
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Yalcinli, M
, 
S Kose

S Kose

Department of Medical Genetics, Ege University School of MedicineIzmir, Turkey
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Kose, S
 oraz 
B Ozbaran

B Ozbaran

Department of Medical Genetics, Ege University School of MedicineIzmir, Turkey
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Ozbaran, B
  
Otwarty dostęp | 31 gru 2016
Microarray technology reveals potentially novel genes and pathways involved in non-functioning pituitary adenomas
X Qiao

X Qiao

Department of Gastrointestinal Surgery, The Second Hospital of Jilin UniversityChangchun, China
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Qiao, X
, 
H Wang

H Wang

Department of Neurosurgery, The Second Hospital of Jilin UniversityChangchun, China
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Wang, H
, 
X Wang

X Wang

Department of Neurosurgery, The Second Hospital of Jilin UniversityChangchun, China
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Wang, X
, 
B Zhao

B Zhao

Department of Neurosurgery, The Second Hospital of Jilin UniversityChangchun, China
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Zhao, B
 oraz 
J Liu

J Liu

Department of Neurosurgery, The Second Hospital of Jilin UniversityChangchun, China
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Liu, J
  

Case Report

Otwarty dostęp | 31 gru 2016
A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome
M Bakšienė

M Bakšienė

  • Center for Medical Genetics, Vilnius University Hospital Santariškių KlinikosVilnius, Lithuania
  • Department of Human and Medical Genetics, Vilnius UniversityVilnius, Lithuania
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Bakšienė, M
, 
E Benušienė

E Benušienė

  • Center for Medical Genetics, Vilnius University Hospital Santariškių KlinikosVilnius, Lithuania
  • Department of Human and Medical Genetics, Vilnius UniversityVilnius, Lithuania
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Benušienė, E
, 
A Morkūnienė

A Morkūnienė

  • Center for Medical Genetics, Vilnius University Hospital Santariškių KlinikosVilnius, Lithuania
  • Department of Human and Medical Genetics, Vilnius UniversityVilnius, Lithuania
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Morkūnienė, A
, 
L Ambrozaitytė

L Ambrozaitytė

  • Center for Medical Genetics, Vilnius University Hospital Santariškių KlinikosVilnius, Lithuania
  • Department of Human and Medical Genetics, Vilnius UniversityVilnius, Lithuania
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Ambrozaitytė, L
, 
A Utkus

A Utkus

  • Center for Medical Genetics, Vilnius University Hospital Santariškių KlinikosVilnius, Lithuania
  • Department of Human and Medical Genetics, Vilnius UniversityVilnius, Lithuania
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Utkus, A
 oraz 
V Kučinskas

V Kučinskas

  • Center for Medical Genetics, Vilnius University Hospital Santariškių KlinikosVilnius, Lithuania
  • Department of Human and Medical Genetics, Vilnius UniversityVilnius, Lithuania
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Kučinskas, V
  
Otwarty dostęp | 31 gru 2016
Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome
L Spahiu

L Spahiu

Pediatric Clinic, University Clinical Center of KosovoPristina, Republic of Kosovo
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Spahiu, L
, 
B Merovci

B Merovci

Pediatric Clinic, University Clinical Center of KosovoPristina, Republic of Kosovo
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Merovci, B
, 
V Ismaili Jaha

V Ismaili Jaha

Pediatric Clinic, University Clinical Center of KosovoPristina, Republic of Kosovo
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Ismaili Jaha, V
, 
A Batalli Këpuska

A Batalli Këpuska

Pediatric Clinic, University Clinical Center of KosovoPristina, Republic of Kosovo
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Batalli Këpuska, A
 oraz 
H Jashari

H Jashari

Pediatric Clinic, University Clinical Center of KosovoPristina, Republic of Kosovo
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Jashari, H
  
Otwarty dostęp | 31 gru 2016
A 9-year-old-girl with Phelan McDermid Syndrome, who had been diagnosed with an autism spectrum disorder
I Görker

I Görker

Child and Adolescent Psychiatry Department, Trakya University, Faculty of MedicineEdirne, Turkey
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Görker, I
, 
H Gürkan

H Gürkan

Medical Genetics Department, Trakya University, Faculty of MedicineEdirne, Turkey
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Gürkan, H
, 
S Demir Ulusal

S Demir Ulusal

Medical Genetics Department, Trakya University, Faculty of MedicineEdirne, Turkey
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Demir Ulusal, S
, 
E Atlı

E Atlı

Medical Genetics Department, Trakya University, Faculty of MedicineEdirne, Turkey
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Atlı, E
 oraz 
E Ikbal Atlı

E Ikbal Atlı

Medical Genetics Department, Trakya University, Faculty of MedicineEdirne, Turkey
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Ikbal Atlı, E
  
Otwarty dostęp | 31 gru 2016
Is c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton Syndrome
R Śmigiel

R Śmigiel

Department of Pediatrics, Wroclaw Medical UniversityWroclaw, Poland
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Śmigiel, R
, 
B Królak-Olejnik

B Królak-Olejnik

Department of Neonatology, Wroclaw Medical UniversityWroclaw, Poland
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Królak-Olejnik, B
, 
D Śniegórska

D Śniegórska

Department of Medical Genetics, Institute of Mother and ChildWarsaw, Poland
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Śniegórska, D
, 
A Rozensztrauch

A Rozensztrauch

Department of Pediatrics, Wroclaw Medical UniversityWroclaw, Poland
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Rozensztrauch, A
, 
A Szafrańska

A Szafrańska

Department of Neonatology, Wroclaw Medical UniversityWroclaw, Poland
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Szafrańska, A
, 
MM Sasiadek

MM Sasiadek

Department of Genetics, Wroclaw Medical UniversityWroclaw, Poland
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Sasiadek, MM
 oraz 
K Wertheim-Tysarowska

K Wertheim-Tysarowska

Department of Medical Genetics, Institute of Mother and ChildWarsaw, Poland
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Wertheim-Tysarowska, K
  

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