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Balkan Journal of Medical Genetics

Tom 24 (2021): Zeszyt 1 (Czerwiec 2021)

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15 Artykułów

Original Article

Otwarty dostęp | 27 lip 2021
PCSK9 gene participates in the development of primary dyslipidemias
D Matías-Pérez

D Matías-Pérez

Division of Postgraduate Studies and Research, Tecnológico Nacional de México, Instituto Tecnológico de OaxacaOaxaca, México
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Matías-Pérez, D
, 
AD Pérez-Santiago

AD Pérez-Santiago

Division of Postgraduate Studies and Research, Tecnológico Nacional de México, Instituto Tecnológico de OaxacaOaxaca, México
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Pérez-Santiago, AD
, 
MA Sánchez Medina

MA Sánchez Medina

Division of Postgraduate Studies and Research, Tecnológico Nacional de México, Instituto Tecnológico de OaxacaOaxaca, México
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Sánchez Medina, MA
, 
JJ Alpuche Osorno

JJ Alpuche Osorno

Faculty of Medicine and Surgery, Facultad de Medicina y Cirugía, Universidad Autónoma “Benito Juárez” de OaxacaOaxaca, México
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Alpuche Osorno, JJ
 oraz 
IA García-Montalvo

IA García-Montalvo

Division of Postgraduate Studies and Research, Tecnológico Nacional de México, Instituto Tecnológico de OaxacaOaxaca, México
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García-Montalvo, IA
  
Otwarty dostęp | 27 lip 2021
Association of NFKB1, NKX2-5, GATA4 and RANKL gene polymorphisms with sporadic congenital heart disease in Greek patients
L Aidinidou

L Aidinidou

Department of Medical Biology-Genetics, Medical School, Aristotle University of ThessalonikiThessaloniki, Greece
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Aidinidou, L
, 
A Chatzikyriakidou

A Chatzikyriakidou

Department of Medical Biology-Genetics, Medical School, Aristotle University of ThessalonikiThessaloniki, Greece
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Chatzikyriakidou, A
, 
A Giannopoulos

A Giannopoulos

Second Department of Pediatrics, Pediatric Cardiology Clinic, AHEPA University Hospital, Aristotle University of ThessalonikiThessaloniki, Greece
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Giannopoulos, A
, 
V Karpa

V Karpa

Department of Medical Biology-Genetics, Medical School, Aristotle University of ThessalonikiThessaloniki, Greece
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Karpa, V
, 
I Tzimou

I Tzimou

Second Department of Pediatrics, Pediatric Cardiology Clinic, AHEPA University Hospital, Aristotle University of ThessalonikiThessaloniki, Greece
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Tzimou, I
, 
E Aidinidou

E Aidinidou

Department of Microbiology, Health Center of Prinos, Thassos IslandMacedonia, Greece
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Aidinidou, E
 oraz 
L Fidani

L Fidani

Department of Medical Biology-Genetics, Medical School, Aristotle University of ThessalonikiThessaloniki, Greece
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Fidani, L
  
Otwarty dostęp | 27 lip 2021
Increased expression of Cardiotrophin-1 in cardiomyopathy patients
S Sharif

S Sharif

Department of Zoology, Lahore College for Women UniversityLahore, Pakistan
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Sharif, S
, 
A Saleem

A Saleem

Department of Zoology, Lahore College for Women UniversityLahore, Pakistan
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Saleem, A
, 
S Naz

S Naz

Department of Zoology, Lahore College for Women UniversityLahore, Pakistan
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Naz, S
, 
F Rashid

F Rashid

Department of Zoology, Lahore College for Women UniversityLahore, Pakistan
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Rashid, F
, 
M Iqtedar

M Iqtedar

Department of Biotechnology, Lahore College for Women UniversityLahore, Pakistan
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Iqtedar, M
, 
A Kaleem

A Kaleem

Department of Biotechnology, Lahore College for Women UniversityLahore, Pakistan
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Kaleem, A
 oraz 
A Latif

A Latif

Department of Zoology, Lahore College for Women UniversityLahore, Pakistan
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Latif, A
  
Otwarty dostęp | 27 lip 2021
Dual effect of the GHRL gene variant in the molecular pathogenesis of obesity
E Becer

E Becer

  • Department of Biochemistry, Faculty of Pharmacy, Near East UniversityNicosia, Cyprus
  • DESAM Research Institute, Near East UniversityNicosia, Cyprus
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Becer, E
 oraz 
MC Ergoren

MC Ergoren

  • DESAM Research Institute, Near East UniversityNicosia, Cyprus
  • Department of Medical Biology, Faculty of Medicine, Near East UniversityNicosia, Cyprus
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Ergoren, MC
  
Otwarty dostęp | 27 lip 2021
Comparative analysis of genes associated with obesity in humans using bioinformatic data and tools
ZS Musliji

ZS Musliji

Department of Food Technology, Faculty of Technology, Mother Teresa UniversitySkopje, Republic of North Macedonia
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Musliji, ZS
, 
AK Pollozhani

AK Pollozhani

Department of Food Technology, Faculty of Technology, Mother Teresa UniversitySkopje, Republic of North Macedonia
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Pollozhani, AK
, 
K Lisichkov

K Lisichkov

Department of Chemical and Control Engineering, Faculty of Technology and Metallurgy, University “St. Cyril and Methodius”Skopje, Republic of North Macedonia
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Lisichkov, K
, 
M Deligios

M Deligios

Department of Biomedical Science, University of SassariSassari, Italy
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Deligios, M
 oraz 
ZT Popovski

ZT Popovski

  • Department of Chemical and Control Engineering, Faculty of Technology and Metallurgy, University “St. Cyril and Methodius”Skopje, Republic of North Macedonia
  • Department of Biochemistry and Genetic Engineering, Faculty of Agricultural Sciences and Food, University “St. Cyril and Methodius”Skopje, Republic of North Macedonia
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Popovski, ZT
  
Otwarty dostęp | 27 lip 2021
Two years of newborn screening for cystic fibrosis in North Macedonia: First experience
S Fustik

S Fustik

Department for Cystic Fibrosis, University Clinic for Pediatrics, Faculty of Medicine, University “Ss. Cyril and Methodius,”Skopje, Republic of North Macedonia
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Fustik, S
, 
V Anastasovska

V Anastasovska

Department for Neonatal Screening, University Clinic for Pediatrics, Faculty of Medicine, University “Ss. Cyril and Methodius,”Skopje, Republic of North Macedonia
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Anastasovska, V
, 
D Plaseska-Karanfilska

D Plaseska-Karanfilska

Research Centre 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
, 
A Stamatova

A Stamatova

Department for Cystic Fibrosis, University Clinic for Pediatrics, Faculty of Medicine, University “Ss. Cyril and Methodius,”Skopje, Republic of North Macedonia
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Stamatova, A
, 
L Spirevska

L Spirevska

Department for Cystic Fibrosis, University Clinic for Pediatrics, Faculty of Medicine, University “Ss. Cyril and Methodius,”Skopje, Republic of North Macedonia
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Spirevska, L
, 
M Pesevska

M Pesevska

Department for Neonatal Screening, University Clinic for Pediatrics, Faculty of Medicine, University “Ss. Cyril and Methodius,”Skopje, Republic of North Macedonia
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Pesevska, M
, 
M Terzikj

M Terzikj

Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences and ArtsSkopje, Republic of North Macedonia
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Terzikj, M
 oraz 
M Vujovic

M Vujovic

Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences and ArtsSkopje, Republic of North Macedonia
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Vujovic, M
  
Otwarty dostęp | 27 lip 2021
Genetic association of solute carrier transporter gene variants with metformin response
Z Abrahams-October

Z Abrahams-October

Precision Medicine Unit, Department of Biotechnology, Faculty of Natural Sciences, University of the Western CapeBellville, South Africa
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Abrahams-October, Z
, 
L Xhakaza

L Xhakaza

Precision Medicine Unit, Department of Biotechnology, Faculty of Natural Sciences, University of the Western CapeBellville, South Africa
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Xhakaza, L
, 
B Pearce

B Pearce

Precision Medicine Unit, Department of Biotechnology, Faculty of Natural Sciences, University of the Western CapeBellville, South Africa
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Pearce, B
, 
C Mandisa Masilela

C Mandisa Masilela

Precision Medicine Unit, Department of Biotechnology, Faculty of Natural Sciences, University of the Western CapeBellville, South Africa
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Mandisa Masilela, C
, 
M Benjeddou

M Benjeddou

Precision Medicine Unit, Department of Biotechnology, Faculty of Natural Sciences, University of the Western CapeBellville, South Africa
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Benjeddou, M
, 
O Vincent Adeniyi

O Vincent Adeniyi

Department of Family Medicine, Walter Sisulu UniversityEast London, South Africa
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Vincent Adeniyi, O
, 
R Johnson

R Johnson

  • South African Medical Research CouncilCape Town, South Africa
  • Division of Medical Physiology, Faculty of Medicine and Health Sciences, Stellenbosch UniversityTygerberg, South Africa
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Johnson, R
 oraz 
J Jebio Ongole

J Jebio Ongole

Department of Family Medicine, Piet Retief HospitalMkhondo, South Africa
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Jebio Ongole, J
  
Otwarty dostęp | 27 lip 2021
Simultaneously both expression of LMP-1 and methylation of E-cadherin: Molecular biomarker in stage IV of nasopharyngeal carcinoma patients
TD Lao

TD Lao

Department of Pharmaceutical and Medical Biology, Ho Chi Minh City Open UniversityHo Chi Minh City, Vietnam
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Lao, TD
, 
PK Truong

PK Truong

Department of Pharmaceutical and Medical Biology, Ho Chi Minh City Open UniversityHo Chi Minh City, Vietnam
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Truong, PK
, 
HH Thieu

HH Thieu

Department of Pharmaceutical and Medical Biology, Ho Chi Minh City Open UniversityHo Chi Minh City, Vietnam
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Thieu, HH
, 
DH Nguyen

DH Nguyen

Ear, Nose and Throat Department, University of Medicine and Pharmacy at Ho Chi Minh CityHo Chi Minh City, Vietnam
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Nguyen, DH
, 
MT Nguyen

MT Nguyen

Department of Otorhinolaryngology, Cho Ray HospitalHo Chi Minh City, Vietnam
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Nguyen, MT
 oraz 
TAH Le

TAH Le

Department of Pharmaceutical and Medical Biology, Ho Chi Minh City Open UniversityHo Chi Minh City, Vietnam
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Le, TAH
  
Otwarty dostęp | 27 lip 2021
Mutation status and immunohistochemical correlation of EGFR mutations in gastrointestinal stromal tumors
H Ozkayalar

H Ozkayalar

Department of Pathology, Faculty of Medicine, Near East UniversityNorthern Nicosia, Cyprus
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Ozkayalar, H
, 
MC Ergoren

MC Ergoren

  • Department of Medical Biology, Faculty of Medicine, Near East UniversityNorthern Nicosia, Cyprus
  • Research Center of Experimental Health Sciences (DESAM), Faculty of Medicine, Near East UniversityNorthern Nicosia, Cyprus
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Ergoren, MC
, 
G Tuncel

G Tuncel

  • Department of Medical Biology, Faculty of Medicine, Near East UniversityNorthern Nicosia, Cyprus
  • Research Center of Experimental Health Sciences (DESAM), Faculty of Medicine, Near East UniversityNorthern Nicosia, Cyprus
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Tuncel, G
, 
S Kurt

S Kurt

Department of Medical Genetics, Faculty of Medicine, Bursa Uludag UniversityBursa, Turkey
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Kurt, S
, 
E Cevik

E Cevik

Department of Medical Genetics, Faculty of Medicine, Bursa Uludag UniversityBursa, Turkey
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Cevik, E
, 
S Ozemri Sag

S Ozemri Sag

Department of Medical Genetics, Faculty of Medicine, Bursa Uludag UniversityBursa, Turkey
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Ozemri Sag, S
, 
B Yilmaz Ozguven

B Yilmaz Ozguven

Department of Pathology, Sisli Hamidiye Etfal Education and Research Hospital, University of Health Sciencesİstanbul, Turkey
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Yilmaz Ozguven, B
, 
F Kabukcuoglu

F Kabukcuoglu

Department of Pathology, Sisli Hamidiye Etfal Education and Research Hospital, University of Health Sciencesİstanbul, Turkey
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Kabukcuoglu, F
, 
G Mocan

G Mocan

  • Department of Pathology, Faculty of Medicine, Near East UniversityNorthern Nicosia, Cyprus
  • Department of Medical Biology, Faculty of Medicine, Near East UniversityNorthern Nicosia, Cyprus
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Mocan, G
 oraz 
ŞG Temel

ŞG Temel

  • Department of Medical Genetics, Faculty of Medicine, Bursa Uludag UniversityBursa, Turkey
  • Department of Embryology and Histology, Faculty of Medicine, Bursa Uludag UniversityBursa, Turkey
  • Department of Translational Medicine, Bursa Uludag University, Health Sciences InstituteBursa, Turkey
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Temel, ŞG
  
Otwarty dostęp | 27 lip 2021
GA genotype of the Arg280His polymorphism on the XRCC1 gene: Genetic susceptibility genotype in differentiated thyroid carcinomas?
NG Kirnap

NG Kirnap

Department of Endocrinology and Metabolism, Başkent University Faculty of MedicineAnkara, Turkey
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Kirnap, NG
, 
NB Tutuncu

NB Tutuncu

  • Department of Endocrinology and Metabolism, Başkent University Faculty of MedicineAnkara, Turkey
  • Department of Medical Biology, Başkent University Faculty of MedicineAnkara, Turkey
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Tutuncu, NB
, 
Y Yalcin

Y Yalcin

Department of Medical Biology, Başkent University Faculty of MedicineAnkara, Turkey
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Yalcin, Y
, 
HPB Cebi

HPB Cebi

Department of Medical Biology, Başkent University Faculty of MedicineAnkara, Turkey
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Cebi, HPB
, 
T Tutuncu

T Tutuncu

  • Department of Medical Biology, Başkent University Faculty of MedicineAnkara, Turkey
  • Department of General Surgery, Numune HospitalAnkara, Turkey
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Tutuncu, T
, 
A Nar

A Nar

Department of Endocrinology and Metabolism, Başkent University Faculty of MedicineAnkara, Turkey
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Nar, A
, 
H Verdi

H Verdi

Department of Medical Biology, Başkent University Faculty of MedicineAnkara, Turkey
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Verdi, H
 oraz 
FB Atac

FB Atac

Department of Medical Biology, Başkent University Faculty of MedicineAnkara, Turkey
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Atac, FB
  
Otwarty dostęp | 27 lip 2021
Familial atypical hemolytic uremic syndrome with positive p.S1191L (c.3572C>T) mutation on the CFH gene: A single-center experience
F Ersoy Dursun

F Ersoy Dursun

Department of Hematology, Medeniyet University, Goztepe Training and Research HospitalIstanbul, Turkey
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Ersoy Dursun, F
, 
G Yesil

G Yesil

Department of Medical Genetics, Bezmialem Vakif University, School of MedicineIstanbul, Turkey
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Yesil, G
, 
G Sasak

G Sasak

Department of Nephrology, Medeniyat University, Goztepe Training and Research HospitalIstanbul, Turkey
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Sasak, G
 oraz 
H Dursin

H Dursin

Department of Pediatric Nephrology, Istanbul Health Sciences University, Okmeydani Training and Research HospitalIstanbul, Turkey
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Dursin, H
  
Otwarty dostęp | 27 lip 2021
Duplication of chromosome 16p13.11-p12.3 with different expressions in the same family
N Pop-Jordanova

N Pop-Jordanova

Department of Medicine, Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences and ArtsSkopje, Republic of North Macedonia
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Pop-Jordanova, N
, 
T Zorcec

T Zorcec

Department of Psychophysiology, University Children’s Hospital, Faculty of Medicine, University “Cyril and Methodius,”Skopje, Republic of North Macedonia
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Zorcec, T
 oraz 
E Sukarova-Angelovska

E Sukarova-Angelovska

  • Department of Psychophysiology, University Children’s Hospital, Faculty of Medicine, University “Cyril and Methodius,”Skopje, Republic of North Macedonia
  • Department of Endocronology and Genetics, University Clinic for Children’s Diseases, Medical Faculty, University Sv. Kiril i MetodijSkopje, Republic of North Macedonia
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Sukarova-Angelovska, E
  

Case Report

Otwarty dostęp | 27 lip 2021
Novel mutation in the COL11A1 gene causing Marshall-Stickler syndrome in three generations of a Bulgarian family
M Mladenova

M Mladenova

  • Department of Medical Chemistry and Biochemistry, Medical University SofiaSofia, Bulgaria
  • Genetic Medico-Diagnostic Laboratory “Genica,”Sofia, Bulgaria
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Mladenova, M
, 
T Todorov

T Todorov

Genetic Medico-Diagnostic Laboratory “Genica,”Sofia, Bulgaria
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Todorov, T
, 
L Grozdanova

L Grozdanova

Department of Medical Genetics, University Hospital “St. George,”Plovdiv, Bulgaria
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Grozdanova, L
, 
V Mitev

V Mitev

Department of Medical Chemistry and Biochemistry, Medical University SofiaSofia, Bulgaria
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Mitev, V
 oraz 
A Todorova

A Todorova

  • Department of Medical Chemistry and Biochemistry, Medical University SofiaSofia, Bulgaria
  • Genetic Medico-Diagnostic Laboratory “Genica,”Sofia, Bulgaria
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Todorova, A
  
Otwarty dostęp | 27 lip 2021
Smith-Lemli-Opitz syndrome: Bosnian and Herzegovinian experience
N Begic

N Begic

Department of Cardiology, Paediatric Clinic, Clinical Centre University of SarajevoSarajevo, Bosnia and Herzegovina
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Begic, N
, 
Z Begic

Z Begic

Department of Cardiology, Paediatric Clinic, Clinical Centre University of SarajevoSarajevo, Bosnia and Herzegovina
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Begic, Z
 oraz 
E Begic

E Begic

  • Department of Cardiology, General Hospital “Prim. Dr. Abdulah Nakas,”Sarajevo, Bosnia and Herzegovina
  • Department of Pharmacology, Sarajevo Medical School, Sarajevo School of Science and TechnologySarajevo, Bosnia and Herzegovina
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Begic, E
  
Otwarty dostęp | 27 lip 2021
A case of glycogen storage disease type 1a mimicking familial chylomicronemia syndrome
A Olgac

A Olgac

Department of Pediatric Metabolism, Division of Pediatric Metabolism, University of Health Sciences, Dr. Sami Ulus Maternity and Child Health, Training and Research HospitalAnkara, Turkey
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Olgac, A
, 
İ Okur

İ Okur

Department of Pediatric Metabolism and Nutrition, Gazi University HospitalAnkara, Turkey
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Okur, İ
, 
G Biberoğlu

G Biberoğlu

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

FS Ezgü

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