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Balkan Journal of Medical Genetics

Volumen 23 (2020): Edición 2 (Noviembre 2020)

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15 Artículos

Review article

Acceso abierto | 23 mar 2021
Genetic spectrum of neonatal diabetes
M Kocova

M Kocova

Medical Faculty, University Cyril and MethodiusSkopje, Republic of Macedonia
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Kocova, M
  

Original article

Acceso abierto | 23 mar 2021
The utility of whole exome sequencing in diagnosing pediatric neurological disorders
OY Muthaffar

OY Muthaffar

Department of Pediatrics, King Abdulaziz UniversityJeddah, Kingdom of Saudi Arabia
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Muthaffar, OY
  
Acceso abierto | 23 mar 2021
Array-comparative genomic hybridization results in clinically affected cases with apparently balanced chromosomal rearrangements
NB Satkin

NB Satkin

Department of Medical Genetics, Istanbul Faculty of MedicineIstanbul, Turkey
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Satkin, NB
, 
B Karaman

B Karaman

Department of Medical Genetics, Istanbul Faculty of MedicineIstanbul, Turkey
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Karaman, B
, 
S Ergin

S Ergin

Department of Medical Genetics, Istanbul Faculty of MedicineIstanbul, Turkey
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Ergin, S
, 
H Kayserili

H Kayserili

Department of Medical Genetics, Istanbul Faculty of MedicineIstanbul, Turkey
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Kayserili, H
, 
IH Kalelioglu

IH Kalelioglu

Department of Medical Genetics, Istanbul Faculty of MedicineIstanbul, Turkey
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Kalelioglu, IH
, 
R Has

R Has

Department of Medical Genetics, Istanbul Faculty of MedicineIstanbul, Turkey
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Has, R
, 
A Yuksel

A Yuksel

Department of Medical Genetics, Istanbul Faculty of MedicineIstanbul, Turkey
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Yuksel, A
 y 
S Basaran

S Basaran

Department of Medical Genetics, Istanbul Faculty of MedicineIstanbul, Turkey
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Basaran, S
  
Acceso abierto | 23 mar 2021
Do we use methylation of NFATC1 and FOS genes as a biomarker for postmenopausal osteoporosis?
R Kalkan

R Kalkan

Department of Medical Genetics, Faculty of Medicine, Near East UniversityNicosia, Cyprus
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Kalkan, R
 y 
O Tosun

O Tosun

Department of Biostatistics, Faculty of Medicine, Near East UniversityNicosia, Cyprus
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Tosun, O
  
Acceso abierto | 23 mar 2021
Influence of potential gene polymorphisms on propofol dosage regimen in patients undergoing abdominal hysterectomy
E Ivanov

E Ivanov

University Clinic for Gynecology and Obstetrics, University “Ss Cyril and Methodius” Medical FacultySkopje, Republic of North Macedonia
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Ivanov, E
, 
Z Sterjev

Z Sterjev

Faculty of Pharmacy, University “Ss Cyril and Methodius,”Skopje, Republic of North Macedonia
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Sterjev, Z
, 
I Budic

I Budic

Department of Surgery and Anesthesiology, Medical Faculty, University of NisNis, Serbia
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Budic, I
, 
J Nojkov

J Nojkov

Department of Anesthesiology, University “Goce Delcev,”Stip, Republic of North Macedonia
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Nojkov, J
, 
D Karadzova

D Karadzova

University Clinic for Gynecology and Obstetrics, University “Ss Cyril and Methodius” Medical FacultySkopje, Republic of North Macedonia
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Karadzova, D
 y 
A Sivevski

A Sivevski

University Clinic for Gynecology and Obstetrics, University “Ss Cyril and Methodius” Medical FacultySkopje, Republic of North Macedonia
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Sivevski, A
  
Acceso abierto | 23 mar 2021
Investigation of the relationship of TNFRSF11A gene polymorphisms with breast cancer development and metastasis risk in patients with BRCA1 or BRCA2 pathogenic variants living in the Trakya region of Turkey
K Özdemir

K Özdemir

Department of Medical Genetics, Genetic Diseases Diagnosis Center, Trakya University Faculty of MedicineEdirne, Turkey
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Özdemir, K
, 
H Gürkan

H Gürkan

Department of Medical Genetics, Genetic Diseases Diagnosis Center, Trakya University Faculty of MedicineEdirne, Turkey
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Gürkan, H
, 
S Demir

S Demir

Department of Medical Genetics, Genetic Diseases Diagnosis Center, Trakya University Faculty of MedicineEdirne, Turkey
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Demir, S
, 
E Atli

E Atli

Department of Medical Genetics, Genetic Diseases Diagnosis Center, Trakya University Faculty of MedicineEdirne, Turkey
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Atli, E
, 
Y Özen

Y Özen

Department of Medical Genetics, Genetic Diseases Diagnosis Center, Trakya University Faculty of MedicineEdirne, Turkey
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Özen, Y
, 
A Sezer

A Sezer

Department of General Surgery, Faculty of Medicine, Trakya UniversityEdirne, Turkey
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Sezer, A
, 
N Tunçbilek

N Tunçbilek

Department of Radiology, Faculty of Medicine, Trakya UniversityEdirne, Turkey
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Tunçbilek, N
 y 
İ Çicin

İ Çicin

Department of Medical Oncology, Faculty of Medicine, Trakya UniversityEdirne, Turkey
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Çicin, İ
  
Acceso abierto | 23 mar 2021
Pros and cons for fluorescent in situ hybridization, karyotyping and next generation sequencing for diagnosis and follow-up of multiple myeloma
E Ikbal Atli

E Ikbal Atli

Department of Medical Genetics, Faculty of Medicine, Edirne, Trakya UniversityEdirne, Turkey
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Ikbal Atli, E
, 
H Gurkan

H Gurkan

Department of Medical Genetics, Faculty of Medicine, Edirne, Trakya UniversityEdirne, Turkey
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Gurkan, H
, 
H Onur Kirkizlar

H Onur Kirkizlar

Department of Hematology, Faculty of Medicine, Trakya UniversityEdirne, Turkey
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Onur Kirkizlar, H
, 
E Atli

E Atli

Department of Medical Genetics, Faculty of Medicine, Edirne, Trakya UniversityEdirne, Turkey
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Atli, E
, 
S Demir

S Demir

Department of Medical Genetics, Faculty of Medicine, Edirne, Trakya UniversityEdirne, Turkey
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Demir, S
, 
S Yalcintepe

S Yalcintepe

Department of Medical Genetics, Faculty of Medicine, Edirne, Trakya UniversityEdirne, Turkey
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Yalcintepe, S
, 
R Kalkan

R Kalkan

Department of Medical Genetics, Faculty of Medicine, Near East UniversityNorth Nicosia, Northern Cyprus
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Kalkan, R
 y 
AM Demir

AM Demir

Department of Hematology, Faculty of Medicine, Trakya UniversityEdirne, Turkey
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Demir, AM
  
Acceso abierto | 23 mar 2021
Evaluation of methylation profiles of an epidermal growth factor receptor gene in a head and neck squamous cell carcinoma patient group
M Mutlu

M Mutlu

Department of Otorhinolaryngology, University of Health Sciences, Ministry of Health, Dışkapı Yıldırım Beyazıt Training and Research HospitalAnkara, Turkey
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Mutlu, M
, 
P Mutlu

P Mutlu

Central Laboratory, Molecular Biology and Biotechnology Research Center, Middle East Technical UniversityAnkara, Turkey
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Mutlu, P
, 
S Azarkan

S Azarkan

Deparment of Molecular Biology and Genetics, Ahi Evran UniversityKırsehir, Turkey
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Azarkan, S
, 
Ö Bayır

Ö Bayır

Department of Otorhinolaryngology, University of Health Sciences, Ministry of Health, Dışkapı Yıldırım Beyazıt Training and Research HospitalAnkara, Turkey
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Bayır, Ö
, 
B Öcal

B Öcal

Department of Otorhinolaryngology, University of Health Sciences, Ministry of Health, Dışkapı Yıldırım Beyazıt Training and Research HospitalAnkara, Turkey
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Öcal, B
, 
G Saylam

G Saylam

Department of Otorhinolaryngology, University of Health Sciences, Ministry of Health, Dışkapı Yıldırım Beyazıt Training and Research HospitalAnkara, Turkey
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Saylam, G
 y 
MH Korkmaz

MH Korkmaz

Department of Otorhinolaryngology, Medical School, Yildirim Beyazit UniversityAnkara, Turkey
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Korkmaz, MH
  
Acceso abierto | 23 mar 2021
Evaluation of microRNA-124 expression in renal cell carcinoma
B Çaykara

B Çaykara

Department of Physiology, Faculty of Medicine, Istanbul Medeniyet UniversityIstanbul, Turkey
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Çaykara, B
, 
G Öztürk

G Öztürk

Department of Physiology, Faculty of Medicine, Istanbul Medeniyet UniversityIstanbul, Turkey
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Öztürk, G
, 
H Alsaadoni

H Alsaadoni

Department of Pathology Laboratory Techniques, Hamidiye Vocational School of Health Services, University of Health SciencesIstanbul, Turkey
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Alsaadoni, H
, 
A Ötünçtemur

A Ötünçtemur

Department of Urology, Okmeydani Training and Research HospitalIstanbul, Turkey
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Ötünçtemur, A
 y 
S Pençe

S Pençe

Department of Physiology, Faculty of Medicine, Istanbul Medeniyet UniversityIstanbul, Turkey
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Pençe, S
  

Case report

Acceso abierto | 23 mar 2021
Fetal cystic hygroma associated with terminal 2p25.1 duplication and terminal 3p25.3 deletion: Cytogenetic, fluorescent in situ hybridization and microarray familial characterization of two different chromosomal structural rearrangements
F Stipoljev

F Stipoljev

  • Cytogenetic Laboratory, Department of Obstetrics and Gynecology, Clinical Hospital “Sveti Duh,”Zagreb, Croatia
  • Faculty of Medicine, Josip Juraj Strossmayer University of OsijekOsijek, Croatia
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Stipoljev, F
, 
M Barbalic

M Barbalic

Genom LtdZagreb, Croatia
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Barbalic, M
, 
M Logara

M Logara

Genom LtdZagreb, Croatia
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Logara, M
, 
A Vicic

A Vicic

Cytogenetic Laboratory, Department of Obstetrics and Gynecology, Clinical Hospital “Sveti Duh,”Zagreb, Croatia
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Vicic, A
, 
M Vulic

M Vulic

Department of Gynecology and Obstetrics, Split University Hospital Centre, School of Medicine, University of SplitSplit, Croatia
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Vulic, M
, 
S Zekic Tomas

S Zekic Tomas

  • Pathology Department, University Hospital Centre SplitSplit, Croatia
  • School of Medicine, University of SplitSplit, Croatia
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Zekic Tomas, S
 y 
R Gjergja Juraski

R Gjergja Juraski

  • Faculty of Medicine, Josip Juraj Strossmayer University of OsijekOsijek, Croatia
  • Srebrnjak Children’s HospitalZagreb, Croatia
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Gjergja Juraski, R
  
Acceso abierto | 23 mar 2021
Familial non-autoimmune hyperthyroidism in family members across four generations due to a novel disease-causing variant in the thyrotropin receptor gene
A Malej

A Malej

Division of Internal Medicine, General Hospital IzolaIzola, Slovenia
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Malej, A
, 
M Avbelj Stefanija

M Avbelj Stefanija

Deparment of Pediatric Endocrinology, Diabetes and Metabolism, University Medical Centre Ljubljana, University Children´s HospitalLjubljana, Slovenia
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Avbelj Stefanija, M
, 
N Bratanič

N Bratanič

Deparment of Pediatric Endocrinology, Diabetes and Metabolism, University Medical Centre Ljubljana, University Children´s HospitalLjubljana, Slovenia
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Bratanič, N
 y 
K Trebušak Podkrajšek

K Trebušak Podkrajšek

  • Deparment of Pediatric Endocrinology, Diabetes and Metabolism, University Medical Centre Ljubljana, University Children´s HospitalLjubljana, Slovenia
  • Institute of Biochemistry and Molecular Genetics, University of Ljubljana, Faculty of MedicineLjubljana, Slovenia
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Trebušak Podkrajšek, K
  
Acceso abierto | 23 mar 2021
Bilateral renal angiomyolipomas and subependymal giant cell astrocytoma associated with tuberous sclerosis complex: A case report and review of the literature
I Rambabova Bushljetik

I Rambabova Bushljetik

University Clinic of NephrologySkopje, Republic of North Macedonia
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Rambabova Bushljetik, I
, 
M Lazareska

M Lazareska

Institute of RadiologySkopje, Republic of North Macedonia
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Lazareska, M
, 
I Barbov

I Barbov

University Clinic of NeurologySkopje, Republic of North Macedonia
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Barbov, I
, 
O Stankov

O Stankov

University Clinic of UrologySkopje, Republic of North Macedonia
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Stankov, O
, 
V Filipce

V Filipce

University Clinic of NeurosurgerySkopje, Republic of North Macedonia
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Filipce, V
 y 
G Spasovski

G Spasovski

University Clinic of NephrologySkopje, Republic of North Macedonia
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Spasovski, G
  
Acceso abierto | 23 mar 2021
Two novel CEBPA mutations in a Turkish patient with acute myeloid leukemia
PE Tokgun

PE Tokgun

Department of Medical Genetics, Pamukkale UniversityDenizli, Turkey
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Tokgun, PE
, 
MT Alay

MT Alay

Department of Medical Genetics, Cerrahpaşa UniversityIstanbul, Turkey
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Alay, MT
, 
S Atli Tekin

S Atli Tekin

Department of Medical Genetics, Pamukkale UniversityDenizli, Turkey
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Atli Tekin, S
, 
N Güler

N Güler

Department of Internal Medicine, Division of Hematology, Pamukkale UniversityDenizli, Turkey
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Güler, N
, 
O Tokgun

O Tokgun

Department of Medical Genetics, Pamukkale UniversityDenizli, Turkey
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Tokgun, O
, 
A Demiray

A Demiray

Department of Medical Genetics, Pamukkale UniversityDenizli, Turkey
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Demiray, A
, 
N Karagenc

N Karagenc

Department of Medical Genetics, Pamukkale UniversityDenizli, Turkey
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Karagenc, N
, 
T Durak

T Durak

Department of Medical Genetics, Pamukkale UniversityDenizli, Turkey
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Durak, T
, 
B Celik

B Celik

Department of Internal Medicine, Division of Hematology, Pamukkale UniversityDenizli, Turkey
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Celik, B
 y 
H Akca

H Akca

Department of Medical Genetics, Pamukkale UniversityDenizli, Turkey
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Akca, H
  
Acceso abierto | 23 mar 2021
Case report of a successful pregnancy in a cystic fibrosis patient with the c.1521_1523delCTT/c.3718-2477C>t genotypes
VL Spasova

VL Spasova

Department of Medical Genetics, Medical University of SofiaSofia, Bulgaria
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Spasova, VL
, 
LI Koleva

LI Koleva

Operative Gynaecology Clinic, UMBALSM “N. I. Pirogov”Sofia, Bulgaria
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Koleva, LI
, 
DI Toncheva

DI Toncheva

Department of Medical Genetics, Medical University of SofiaSofia, Bulgaria
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Toncheva, DI
 y 
VI Karamisheva

VI Karamisheva

  • Second Gynaecology Clinic, SBALAG “Maichin dom”Sofia, Bulgaria
  • Department of Obstetrics and Gynaecology, Medical University of SofiaSofia, Bulgaria
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Karamisheva, VI
  
Acceso abierto | 23 mar 2021
Osteopetrorickets in an infant with coexistent congenital cytomegalovirus infection
M Katsafiloudi

M Katsafiloudi

Thessaloniki, Greece
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Katsafiloudi, M
, 
N Gombakis

N Gombakis

Thessaloniki, Greece
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Gombakis, N
, 
E Hatzipantelis

E Hatzipantelis

Thessaloniki, Greece
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Hatzipantelis, E
 y 
A Tragiannidis

A Tragiannidis

Thessaloniki, Greece
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Tragiannidis, A
  

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Idioma:
Inglés
Calendario de la edición:
2 veces al año
Temas de la revista:
Medicina, Ciencias médicas básicas, Ciencias médicas básicas, otros
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