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Balkan Journal of Medical Genetics

Tom 25 (2022): Zeszyt 1 (Czerwiec 2022)

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14 Artykułów

Original Article

Otwarty dostęp | 01 mar 2023
“We’ve opened pandora’s box, haven’t we?” clinical geneticists’ views on ethical aspects of genomic testing in neonatal intensive care
T Arsov

T Arsov

  • Faculty of Medical Sciences, University Goce Delchev in ShtipShtip, North Macedonia
  • The University of Sydney, Faculty of Medicine and Health, Discipline of Genomic MedicineSydney, Australia
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Arsov, T
  
Otwarty dostęp | 01 mar 2023
APOE4 Status and cognitive function in middle-aged and elderly people
N.A. Pavel

N.A. Pavel

Psychiatry Department, University of Medicine and Pharmacy “Carol Davila”Bucharest, Romania
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Pavel, N.A.
, 
M.R. Paun

M.R. Paun

“Prof. Dr. Alexandru Obregia” Psychiatric HospitalBucharest, Romania
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Paun, M.R.
, 
P.V. Matei

P.V. Matei

  • Psychiatry Department, University of Medicine and Pharmacy “Carol Davila”Bucharest, Romania
  • “Prof. Dr. Alexandru Obregia” Psychiatric HospitalBucharest, Romania
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Matei, P.V.
, 
I. Dutu

I. Dutu

Psychiatry Department, University of Medicine and Pharmacy “Carol Davila”Bucharest, Romania
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Dutu, I.
 oraz 
C. Tudose

C. Tudose

  • Psychiatry Department, University of Medicine and Pharmacy “Carol Davila”Bucharest, Romania
  • “Prof. Dr. Alexandru Obregia” Psychiatric HospitalBucharest, Romania
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Tudose, C.
  
Otwarty dostęp | 01 mar 2023
Comprehensive genetic evaluation of Bulgarian children with syndromic craniosynostosis
T Delchev

T Delchev

Department of Clinical Genetics, University Children Hospital, Medical University – SofiaSofia, Bulgaria
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Delchev, T
, 
S Hadjidekova

S Hadjidekova

Department of Medical genetics - Maichin Dom, Medical University – SofiaSofia, Bulgaria
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Hadjidekova, S
, 
S Bichev

S Bichev

National Genetic Laboratory- Maichin Dom, Medical University – SofiaSofia, Bulgaria
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Bichev, S
, 
Ts Veleva

Ts Veleva

Department of Clinical Genetics, University Children Hospital, Medical University – SofiaSofia, Bulgaria
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Veleva, Ts
, 
I Boneva

I Boneva

Cytogenetic Laboratory, Universtity Children HospitalSofia, Bulgaria
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Boneva, I
 oraz 
D Avdjieva-Tzavella

D Avdjieva-Tzavella

Department of Clinical Genetics, University Children Hospital, Medical University – SofiaSofia, Bulgaria
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Avdjieva-Tzavella, D
  
Otwarty dostęp | 01 mar 2023
Identification of key target genes and pathway analysis in nonalcoholic fatty liver disease via integrated bioinformatics analysis
X. Chen

X. Chen

Endocrine Metabolic Disease Section, The Affiliated Hospital to Changchun University of Chinese MedicineChangchun City, China
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Chen, X.
, 
L. Zhang

L. Zhang

Department of Dermatology, The Affiliated Hospital to Changchun University of Chinese MedicineChangchun City, China
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Zhang, L.
, 
Y. Wang

Y. Wang

Endocrine Metabolic Disease Section, The Affiliated Hospital to Changchun University of Chinese MedicineChangchun City, China
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Wang, Y.
, 
R. Li

R. Li

Endocrine Metabolic Disease Section, The Affiliated Hospital to Changchun University of Chinese MedicineChangchun City, China
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Li, R.
, 
M. Yang

M. Yang

Endocrine Metabolic Disease Section, The Affiliated Hospital to Changchun University of Chinese MedicineChangchun City, China
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Yang, M.
 oraz 
L. Gao

L. Gao

College of Basic Medicine, Changchun University of Chinese Medicine, 1035 Boshuo Road, Jingyue DistrictChangchun City, China
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Gao, L.
  
Otwarty dostęp | 01 mar 2023
Matrix metalloproteinase-2 (MMP-2 ) and-9 (MMP-9) gene variants and microvascular complications in type 2 diabetes patients
Jelic M Andjelic

Jelic M Andjelic

Department of Endocrinology, Diabetes and Metabolic Diseases, Clinical Medical Centre ZvezdaraBelgrade, Serbia
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Andjelic, Jelic M
, 
D Radojkovic

D Radojkovic

Institute of Molecular Genetics and Genetic Engineering, University of BelgradeBelgrade, Serbia
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Radojkovic, D
, 
A Nikolic

A Nikolic

Institute of Molecular Genetics and Genetic Engineering, University of BelgradeBelgrade, Serbia
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Nikolic, A
, 
Lj Rakicevic

Lj Rakicevic

Institute of Molecular Genetics and Genetic Engineering, University of BelgradeBelgrade, Serbia
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Rakicevic, Lj
, 
T Babic

T Babic

Institute of Molecular Genetics and Genetic Engineering, University of BelgradeBelgrade, Serbia
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Babic, T
, 
D Jelic

D Jelic

Faculty of Dentistry PancevoPancevo, Serbia
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Jelic, D
 oraz 
NM Lalic

NM Lalic

Clinic for Endocrinology, Diabetes and Metabolic Diseases, Clinical Centre of Serbia, Faculty of Medicine, University of BelgradeBelgrade, Serbia
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Lalic, NM
  
Otwarty dostęp | 01 mar 2023
Vitamin D receptor polymorphisms among the Turkish population are associated with multiple sclerosis
B Bulan

B Bulan

Medical School, Marmara UniversityIstanbul, Turkey
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Bulan, B
, 
AY Hoscan

AY Hoscan

Medical School, Marmara UniversityIstanbul, Turkey
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Hoscan, AY
, 
SN Keskin

SN Keskin

Medical School, Marmara UniversityIstanbul, Turkey
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Keskin, SN
, 
A Cavus

A Cavus

Medical School, Marmara UniversityIstanbul, Turkey
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Cavus, A
, 
EA Culcu

EA Culcu

Medical School, Marmara UniversityIstanbul, Turkey
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Culcu, EA
, 
N Isik

N Isik

Clinic of Neurology, Istanbul Okan UniversityIstanbul, Turkey
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Isik, N
, 
EO List

EO List

The Edison Biotechnology Institute, Ohio UniversityAthens, OH, USA
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List, EO
 oraz 
A Arman

A Arman

Department of Medical Genetics, Medical School, Marmara UniversityIstanbul, Turkey
Profil Orcid
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Arman, A
  
Otwarty dostęp | 01 mar 2023
Single nucleotide polymorphisms in IL-1A RS1800587, IL-1B RS1143634 and vitamin D receptor rs731236 in stage III grade B/C periodontitis
Özener H. Özturk

Özener H. Özturk

Department of Periodontology, Faculty of Dentistry, Marmara UniversityIstanbul, Turkey
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Özturk, Özener H.
, 
Aslan B. Tacal

Aslan B. Tacal

Department of Basic Medical Sciences Medical Biology and Genetics, Faculty of Dentistry, Marmara UniversityIstanbul, Turkey
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Tacal, Aslan B.
, 
B.F. Eken

B.F. Eken

Department of Basic Medical Sciences Medical Biology and Genetics, Faculty of Dentistry, Marmara UniversityIstanbul, Turkey
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Eken, B.F.
, 
Ö.B. Agrali

Ö.B. Agrali

Department of Periodontology, Faculty of Dentistry, Marmara UniversityIstanbul, Turkey
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Agrali, Ö.B.
, 
H.S. Yildrim

H.S. Yildrim

Department of Periodontology, Faculty of Dentistry, Marmara UniversityIstanbul, Turkey
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Yildrim, H.S.
, 
E.Ç. Altunok

E.Ç. Altunok

Department of Biostatistics and Medical Informatics, Faculty of Medicine, Yeditepe UniversityIstanbul, Turkey
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Altunok, E.Ç.
, 
K. Ulucan

K. Ulucan

Department of Basic Medical Sciences Medical Biology and Genetics, Faculty of Dentistry, Marmara UniversityIstanbul, Turkey
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Ulucan, K.
 oraz 
L. Kuru

L. Kuru

Department of Periodontology, Faculty of Dentistry, Marmara UniversityIstanbul, Turkey
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Kuru, L.
  
Otwarty dostęp | 01 mar 2023
MIR-147B regulated proliferation and apoptosis of gastric cancer cells by targeting CPEB2 via the PTEN pathway
Tao К

Tao К

  • Beijing Key Laboratory of Cancer Invasion and Metastasis Mechanism Research, Beijing Friendship Hospital, Capital Medical University, General Surgery, National Digestive Diseases Clinical Research CenterBeijing, China
  • Department of Minimal Invasive Digestive Surgery, Shanxi Tumor Hospital, Shanxi Medical UniversityTaiyuan, China
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К, Tao
, 
J-H. Dong

J-H. Dong

Department of Minimal Invasive Digestive Surgery, Shanxi Tumor Hospital, Shanxi Medical UniversityTaiyuan, China
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Dong, J-H.
, 
D. Wang

D. Wang

Beijing Key Laboratory of Cancer Invasion and Metastasis Mechanism Research, Beijing Friendship Hospital, Capital Medical University, General Surgery, National Digestive Diseases Clinical Research CenterBeijing, China
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Wang, D.
, 
F. Li

F. Li

Beijing Key Laboratory of Cancer Invasion and Metastasis Mechanism Research, Beijing Friendship Hospital, Capital Medical University, General Surgery, National Digestive Diseases Clinical Research CenterBeijing, China
Profil Orcid
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Li, F.
 oraz 
Z-T. Zhang

Z-T. Zhang

Beijing Key Laboratory of Cancer Invasion and Metastasis Mechanism Research, Beijing Friendship Hospital, Capital Medical University, General Surgery, National Digestive Diseases Clinical Research CenterBeijing, China
Profil Orcid
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Zhang, Z-T.
  
Otwarty dostęp | 01 mar 2023
A novel Loss-of-function Mutation in MYBPC3 Causes familial hypertrophic cardiomyopathy with extreme intrafamilial phenotypic heterogeneity
Y Peng

Y Peng

  • Department of Cardiology, the First Hospital of Lanzhou UniversityLanzhou, China
  • Key Laboratory for Cardiovascular Diseases of Gansu Province, Lanzhou UniversityLanzhou, China
  • Gansu Provincial Clinical Research Center for Cardiovascular DiseasesLanzhou, China
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Peng, Y
, 
J Xu

J Xu

  • Department of Cardiology, the First Hospital of Lanzhou UniversityLanzhou, China
  • Key Laboratory for Cardiovascular Diseases of Gansu Province, Lanzhou UniversityLanzhou, China
  • Gansu Provincial Clinical Research Center for Cardiovascular DiseasesLanzhou, China
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Xu, J
, 
Y Wang

Y Wang

  • Department of Cardiology, the First Hospital of Lanzhou UniversityLanzhou, China
  • Key Laboratory for Cardiovascular Diseases of Gansu Province, Lanzhou UniversityLanzhou, China
  • Gansu Provincial Clinical Research Center for Cardiovascular DiseasesLanzhou, China
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Wang, Y
, 
J Zhao

J Zhao

  • Department of Cardiology, the First Hospital of Lanzhou UniversityLanzhou, China
  • Key Laboratory for Cardiovascular Diseases of Gansu Province, Lanzhou UniversityLanzhou, China
  • Gansu Provincial Clinical Research Center for Cardiovascular DiseasesLanzhou, China
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Zhao, J
, 
L Zhang

L Zhang

  • Department of Cardiology, the First Hospital of Lanzhou UniversityLanzhou, China
  • Key Laboratory for Cardiovascular Diseases of Gansu Province, Lanzhou UniversityLanzhou, China
  • Gansu Provincial Clinical Research Center for Cardiovascular DiseasesLanzhou, China
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Zhang, L
, 
Z Chen

Z Chen

  • Department of Cardiology, the First Hospital of Lanzhou UniversityLanzhou, China
  • Key Laboratory for Cardiovascular Diseases of Gansu Province, Lanzhou UniversityLanzhou, China
  • Gansu Provincial Clinical Research Center for Cardiovascular DiseasesLanzhou, China
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Chen, Z
, 
Y Jiang

Y Jiang

  • Department of Cardiology, the First Hospital of Lanzhou UniversityLanzhou, China
  • Key Laboratory for Cardiovascular Diseases of Gansu Province, Lanzhou UniversityLanzhou, China
  • Gansu Provincial Clinical Research Center for Cardiovascular DiseasesLanzhou, China
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Jiang, Y
, 
S Banerjee

S Banerjee

Department of Genetics, College of Basic Medical Sciences, Jilin UniversityChangchun, China
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Banerjee, S
, 
Z Zhang

Z Zhang

  • Department of Cardiology, the First Hospital of Lanzhou UniversityLanzhou, China
  • Key Laboratory for Cardiovascular Diseases of Gansu Province, Lanzhou UniversityLanzhou, China
  • Gansu Provincial Clinical Research Center for Cardiovascular DiseasesLanzhou, China
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Zhang, Z
 oraz 
M Bai

M Bai

  • Department of Cardiology, the First Hospital of Lanzhou UniversityLanzhou, China
  • Key Laboratory for Cardiovascular Diseases of Gansu Province, Lanzhou UniversityLanzhou, China
  • Gansu Provincial Clinical Research Center for Cardiovascular DiseasesLanzhou, China
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Bai, M
  

Case Report

Otwarty dostęp | 01 mar 2023
Keratitis-ichthyosis-deafness syndrome with heterozygous p.D50N in the GJB2 gene in two Serbian adult patients
T Kalezić

T Kalezić

School of Medicine, University of Belgrade; Clinic for Eye Disease, University Clinical Centre of SerbiaBelgrade, Serbia
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Kalezić, T
, 
I Vuković

I Vuković

School of Medicine, University of Belgrade; Clinic for Gynecology and Obstetrics, University Clinical Centre of SerbiaBelgrade, Serbia
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Vuković, I
, 
M Stojković

M Stojković

School of Medicine, University of Belgrade; Clinic for Eye Disease, University Clinical Centre of SerbiaBelgrade, Serbia
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Stojković, M
, 
S Stanojlović

S Stanojlović

School of Medicine, University of Belgrade; Clinic for Eye Disease, University Clinical Centre of SerbiaBelgrade, Serbia
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Stanojlović, S
, 
J Karanović

J Karanović

University of Belgrade, Faculty of Biology, Center for Human Molecular GeneticsBelgrade, Serbia
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Karanović, J
, 
G Brajušković

G Brajušković

University of Belgrade, Faculty of Biology, Center for Human Molecular GeneticsBelgrade, Serbia
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Brajušković, G
 oraz 
D Savić-Pavićević

D Savić-Pavićević

University of Belgrade, Faculty of Biology, Center for Human Molecular GeneticsBelgrade, Serbia
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Savić-Pavićević, D
  
Otwarty dostęp | 01 mar 2023
A novel likely pathogenic variant in the RUNX1 gene as the cause of congenital thrombocytopenia
M Despotović

M Despotović

University of Rijeka, Faculty of MedicineRijeka, Croatia
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Despotović, M
, 
N Pereza

N Pereza

Department of Medical Biology and Genetics, University of Rijeka, Faculty of MedicineRijeka, Croatia
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Pereza, N
, 
B Peterlin

B Peterlin

Clinical Institute for Genomic Medicine, University Medical Centre LjubljanaLjubljana, Slovenia
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Peterlin, B
, 
S Ostojić

S Ostojić

Department of Medical Biology and Genetics, University of Rijeka, Faculty of MedicineRijeka, Croatia
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Ostojić, S
, 
B Golob

B Golob

Clinical Institute for Genomic Medicine, University Medical Centre LjubljanaLjubljana, Slovenia
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Golob, B
, 
A Maver

A Maver

Clinical Institute for Genomic Medicine, University Medical Centre LjubljanaLjubljana, Slovenia
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Maver, A
 oraz 
J Roganović

J Roganović

Department of Pediatrics, Clinical Hospital Center RijekaRijeka, Croatia
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Roganović, J
  
Otwarty dostęp | 01 mar 2023
A case of mody 2 - Associated hyperglycemia diagnosed as gestational diabetes
N. Chakarova

N. Chakarova

Department of Endocrinology, Medical University of SofiaSofia, Bulgaria
Profil Orcid
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Chakarova, N.
, 
L. Balabanski

L. Balabanski

  • Department of Medical Genetics, Medical University of SofiaSofia, Bulgaria
  • Malinov ClinicSofia, Bulgaria
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Balabanski, L.
, 
R. Dimova

R. Dimova

Department of Endocrinology, Medical University of SofiaSofia, Bulgaria
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Dimova, R.
, 
P. Tsarkova

P. Tsarkova

Department of Endocrinology, Medical University of SofiaSofia, Bulgaria
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Tsarkova, P.
 oraz 
T. Tankova

T. Tankova

Department of Endocrinology, Medical University of SofiaSofia, Bulgaria
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Tankova, T.
  
Otwarty dostęp | 01 mar 2023
A novel variant in the LIPA gene associated with distinct phenotype
A. Sarajlija

A. Sarajlija

  • Mother and Child Health Care Institute of Serbia “Dr. Vukan Cupic”, Pediatric Day Care HospitalBelgrade, Serbia
  • School of Medicine, University of BelgradeBelgrade, Serbia
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Sarajlija, A.
, 
L. Armengol

L. Armengol

Quantitative Genomic Medicine Laboratories (qGenomics)Esplugues del Llobregat, Spain
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Armengol, L.
, 
A. Maver

A. Maver

Clinical Institute of Genomic Medicine, University Medical Centre LjubljanaLjubljana, Slovenia
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Maver, A.
, 
I. Kitic

I. Kitic

  • Mother and Child Health Care Institute of Serbia “Dr. Vukan Cupic”, Department of Gastroenterology and HepatologyBelgrade, Serbia
  • School of Medicine, University of BelgradeBelgrade, Serbia
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Kitic, I.
, 
D. Prokic

D. Prokic

  • Mother and Child Health Care Institute of Serbia “Dr. Vukan Cupic”, Department of Gastroenterology and HepatologyBelgrade, Serbia
  • School of Medicine, University of BelgradeBelgrade, Serbia
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Prokic, D.
, 
M. Cehic

M. Cehic

Mother and Child Health Care Institute of Serbia “Dr. Vukan Cupic”, Pediatric Day Care HospitalBelgrade, Serbia
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Cehic, M.
, 
M.S. Djuricic

M.S. Djuricic

  • Mother and Child Health Care Institute of Serbia “Dr. Vukan Cupic”, Department of Clinical PathologyBelgrade, Serbia
  • Faculty of Medicine, University of Banja LukaBanja Luka, Bosnia and Herzegovina
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Djuricic, M.S.
 oraz 
B. Peterlin

B. Peterlin

Clinical Institute of Genomic Medicine, University Medical Centre LjubljanaLjubljana, Slovenia
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Peterlin, B.
  
Otwarty dostęp | 01 mar 2023
Double isochromosome X, A rare cytogenetic variant of turner syndrome: A case report and a review of the literature
K. Zerrouki

K. Zerrouki

  • Faculty of Medicine and Pharmacy, Mohammed Premier UniversityOujda, Morocco
  • Medical Genetics Laboratory, Mohammed VI University HospitalOujda, Morocco
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Zerrouki, K.
, 
A. Babakhouya

A. Babakhouya

  • Faculty of Medicine and Pharmacy, Mohammed Premier UniversityOujda, Morocco
  • Pediatrics department, Mother and Child Hospital, Mohammed VI University HospitalOujda, Morocco
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Babakhouya, A.
 oraz 
M. Tajir

M. Tajir

  • Faculty of Medicine and Pharmacy, Mohammed Premier UniversityOujda, Morocco
  • Medical Genetics Laboratory, Mohammed VI University HospitalOujda, Morocco
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Tajir, M.
  

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