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Balkan Journal of Medical Genetics

Tom 22 (2019): Zeszyt 1 (Czerwiec 2019)

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14 Artykułów

Original Article

Otwarty dostęp | 28 sie 2019
Copy number variations in female infertility in China
W Huang

W Huang

Reproductive Medicine Center, Xinjiang JiaYin Hospital, Shuimogou District, UrumchiXinjiang Province, People's Republic of China
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Huang, W
, 
J Wang

J Wang

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Wang, J
, 
M Pang

M Pang

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Pang, M
, 
Q Zhao

Q Zhao

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Zhao, Q
, 
L Kong

L Kong

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Kong, L
, 
Y Mao

Y Mao

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Mao, Y
, 
W Li

W Li

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Li, W
 oraz 
Β Liang

Β Liang

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Liang, Β
  
Otwarty dostęp | 28 sie 2019
A systematic clinical review of prenatally diagnosed tetrasomy 9p
M Vinkšel

M Vinkšel

Clinical Institute of Medical Genetics, University Medical Centre LjubljanaLjubljana, Slovenia
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Vinkšel, M
, 
M Volk

M Volk

Clinical Institute of Medical Genetics, University Medical Centre LjubljanaLjubljana, Slovenia
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Volk, M
, 
B Peterlin

B Peterlin

Clinical Institute of Medical Genetics, University Medical Centre LjubljanaLjubljana, Slovenia
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Peterlin, B
 oraz 
L Lovrecic

L Lovrecic

Clinical Institute of Medical Genetics, University Medical Centre LjubljanaLjubljana, Slovenia
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Lovrecic, L
  
Otwarty dostęp | 28 sie 2019
Increased expression of pentraxin 3 in placental tissues from patients with unexplained recurrent pregnancy loss
S Zeybek

S Zeybek

Department of Medical Genetics, Erzurum Regional Training and Research HospitalEizurum, Turkey
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Zeybek, S
, 
E Tepeli

E Tepeli

Private ClinicDenizli, Turkey
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Tepeli, E
, 
GO Cetin

GO Cetin

Department of Medical Genetics, Faculty of Medicine, Pamukkale UniversityDenizli, Turkey
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Cetin, GO
, 
V Caner

V Caner

Department of Medical Genetics, Faculty of Medicine, Pamukkale UniversityDenizli, Turkey
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Caner, V
, 
H Senol

H Senol

Department of Biostatistics, Faculty of Medicine, Pamukkale UniversityDenizli, Turkey
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Senol, H
, 
B Yildirim

B Yildirim

Private ClinicDenizli, Turkey
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Yildirim, B
 oraz 
G Bagci

G Bagci

Department of Medical Genetics, Faculty of Medicine, Pamukkale UniversityDenizli, Turkey
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Bagci, G
  
Otwarty dostęp | 28 sie 2019
Prenatal diagnosis of organic acidemias at a tertiary center
A Tanacan

A Tanacan

Department of Obstetrics and Gynecology, Division of Perinatology, Hacettepe University HospitalAnkara, Turkey
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Tanacan, A
, 
BB Gurbuz

BB Gurbuz

Department of Pediatrics, Division of Pediatric Metabolism, Hacettepe University HospitalAnkara, Turkey
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Gurbuz, BB
, 
E Aydin

E Aydin

Department of Obstetrics and Gynecology, Division of Perinatology, Hacettepe University HospitalAnkara, Turkey
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Aydin, E
, 
M Erden

M Erden

Department of Obstetrics and Gynecology, Division of Perinatology, Hacettepe University HospitalAnkara, Turkey
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Erden, M
, 
T Coskun

T Coskun

Department of Pediatrics, Division of Pediatric Metabolism, Hacettepe University HospitalAnkara, Turkey
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Coskun, T
 oraz 
MS Beksac

MS Beksac

Department of Obstetrics and Gynecology, Division of Perinatology, Hacettepe University HospitalAnkara, Turkey
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Beksac, MS
  
Otwarty dostęp | 28 sie 2019
Cystic fibrosis mutation spectrum in north macedonia: A step toward personalized therapy
M Terzic

M Terzic

Research Center for Genetic Engineering and Biotechnology "Georgi D.Efremov," Macedonian Academy of Sciences and ArtsSkopje, Republic of North Macedonia
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Terzic, M
, 
M Jakimovska

M Jakimovska

Research Center for Genetic Engineering and Biotechnology "Georgi D.Efremov," Macedonian Academy of Sciences and ArtsSkopje, Republic of North Macedonia
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Jakimovska, M
, 
S Fustik

S Fustik

University Children's Hospital SkopjeSkopje, Republic of North Macedonia
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Fustik, S
, 
T Jakovska

T Jakovska

Institute of Respiratory Diseases in ChildrenKozle, Republic of North Macedonia
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Jakovska, T
, 
E Sukarova-Stefanovska

E Sukarova-Stefanovska

Research Center for Genetic Engineering and Biotechnology "Georgi D.Efremov," Macedonian Academy of Sciences and ArtsSkopje, Republic of North Macedonia
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Sukarova-Stefanovska, E
 oraz 
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
  
Otwarty dostęp | 28 sie 2019
Associations between vaspin rs2236242 gene polymorphism, walking time and the risk of metabolic syndrome
E Suliga

E Suliga

Department of Nutrition and Dietetics, Institute of Public Health, Faculty of Medicine and Health Sciences, Jan Kochanowski UniversityKielce, Poland
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Suliga, E
, 
D Kozieł

D Kozieł

Department of Surgery and Surgical Nursery with Genetics Laboratory and Research Laboratory, Institute of Medical Sciences, Jan Kochanowski UniversityKielce, Poland
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Kozieł, D
, 
E Cieśla

E Cieśla

Department of Developmental Age Research, Institute of Public Health, Faculty of Medicine and Health Sciences, Jan Kochanowski UniversityKielce, Poland
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Cieśla, E
, 
D Rębak

D Rębak

Department of Surgery and Surgical Nursery with Genetics Laboratory and Research Laboratory, Institute of Medical Sciences, Jan Kochanowski UniversityKielce, Poland
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Rębak, D
, 
M Wawszczak

M Wawszczak

Department of Surgery and Surgical Nursery with Genetics Laboratory and Research Laboratory, Institute of Medical Sciences, Jan Kochanowski UniversityKielce, Poland
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Wawszczak, M
, 
W Adamus-Białek

W Adamus-Białek

Department of Surgery and Surgical Nursery with Genetics Laboratory and Research Laboratory, Institute of Medical Sciences, Jan Kochanowski UniversityKielce, Poland
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Adamus-Białek, W
, 
E Naszydłowska

E Naszydłowska

Department of Social Prevention, Institute of Public Health, Faculty of Medicine and Health Sciences, Jan Kochanowski UniversityKielce, Poland
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Naszydłowska, E
, 
A Piechowska

A Piechowska

Department of Surgery and Surgical Nursery with Genetics Laboratory and Research Laboratory, Institute of Medical Sciences, Jan Kochanowski UniversityKielce, Poland
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Piechowska, A
 oraz 
S Głuszek

S Głuszek

Department of Surgery and Surgical Nursery with Genetics Laboratory and Research Laboratory, Institute of Medical Sciences, Jan Kochanowski UniversityKielce, Poland
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Głuszek, S
  
Otwarty dostęp | 28 sie 2019
Comparative expression analysis of human endogenous retrovirus elements in peripheral blood of children with specific language impairment
DS Minchev

DS Minchev

  • Department of Plant Physiology and Molecular Biology, University of Plovdiv "Paisii Hilendarski,"Plovdiv, Bulgaria
  • Department of Medical Biology, Faculty of Medicine, Medical University-PlovdivPlovdiv, Bulgaria
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Minchev, DS
, 
NT Popov

NT Popov

Psychiatric Ward for Active Treatment of Men, State Phsychiatry Hospital PazardzhikPazardzhik, Bulgaria
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Popov, NT
, 
SI Naimov

SI Naimov

Department of Plant Physiology and Molecular Biology, University of Plovdiv "Paisii Hilendarski,"Plovdiv, Bulgaria
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Naimov, SI
, 
IN Minkov

IN Minkov

Institute of Molecular Biology and Biotechnologies (IMBB)Plovdiv, Bulgaria
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Minkov, IN
 oraz 
TI Vachev

TI Vachev

Department of Plant Physiology and Molecular Biology, University of Plovdiv "Paisii Hilendarski,"Plovdiv, Bulgaria
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Vachev, TI
  
Otwarty dostęp | 28 sie 2019
Janus kinase V617F mutation detection in patients with myelofibrosis
D Nikolova

D Nikolova

  • Department of Medical genetics, Medical Faculty, Medical University SofiaSofia, Bulgaria
  • Clinic of Hematology and Oncology, University Hospital "St. Ivan Rilski,"Sofia, Bulgaria
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Nikolova, D
, 
A Yordanov

A Yordanov

Clinic of Hematology and Oncology, University Hospital "St. Ivan Rilski,"Sofia, Bulgaria
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Yordanov, A
, 
V Damyanova

V Damyanova

  • Department of Medical genetics, Medical Faculty, Medical University SofiaSofia, Bulgaria
  • Clinic of Hematology and Oncology, University Hospital "St. Ivan Rilski,"Sofia, Bulgaria
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Damyanova, V
, 
A Radinov

A Radinov

Clinic of Hematology and Oncology, University Hospital "St. Ivan Rilski,"Sofia, Bulgaria
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Radinov, A
 oraz 
D Toncheva

D Toncheva

Department of Medical genetics, Medical Faculty, Medical University SofiaSofia, Bulgaria
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Toncheva, D
  
Otwarty dostęp | 28 sie 2019
Novel patterns of the Epstein-Barr nuclear antigen (EBNA-1) V-Val subtype in EBV-associated nasopharyngeal carcinoma from Vietnam
LD Thuan

LD Thuan

Department of Pharmaceutical and Medical Biotechnology, Faculty of Biotechnology, Ho Chi Minh City Open UniversityHo Chi Minh City, Vietnam
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Thuan, LD
, 
ND Kha

ND Kha

Faculty of Biology and Biotechnology, University of Science, Vietnam National University of Ho Chi Minh CityHo Chi Minh City, Vietnam
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Kha, ND
, 
NT Minh

NT Minh

Cho Ray HospitalHo Chi Minh City, Vietnam
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Minh, NT
 oraz 
LHA Thuy

LHA Thuy

Department of Pharmaceutical and Medical Biotechnology, Faculty of Biotechnology, Ho Chi Minh City Open UniversityHo Chi Minh City, Vietnam
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Thuy, LHA
  
Otwarty dostęp | 28 sie 2019
Do fair and just systems require compensation for the disadvantages of the natural lottery? a discussion on society's duties on the provision of gene therapy
PE Ekmekci

PE Ekmekci

Department of History of Medicine and Ethics, TOBB Economics and Technology University Medical SchoolAnkara, Turkey
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Ekmekci, PE
 oraz 
MD Güner

MD Güner

Department of Medical Pharmacology, TOBB Economics and Technology University Medical SchoolAnkara, Turkey
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Güner, MD
  

Case Report

Otwarty dostęp | 28 sie 2019
Impact of genetics on neoadjuvant therapy with complete pathological response in metastatic colorectal cancer: Case report and review of the literature
P Bulajic

P Bulajic

Clinic for Digestive Surgery, The First Surgical Clinic, Clinical Center of SerbiaBelgrade, Serbia
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Bulajic, P
, 
N Bidzic

N Bidzic

Clinic for Digestive Surgery, The First Surgical Clinic, Clinical Center of SerbiaBelgrade, Serbia
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Bidzic, N
, 
V Djordjevic

V Djordjevic

Clinic for Digestive Surgery, The First Surgical Clinic, Clinical Center of SerbiaBelgrade, Serbia
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Djordjevic, V
, 
Μ Ceranic

Μ Ceranic

  • Clinic for Digestive Surgery, The First Surgical Clinic, Clinical Center of SerbiaBelgrade, Serbia
  • Medical Faculty, University of BelgradeBelgrade, Serbia
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Ceranic, Μ
, 
D Βasaric

D Βasaric

  • Clinic for Digestive Surgery, The First Surgical Clinic, Clinical Center of SerbiaBelgrade, Serbia
  • Medical Faculty, University of BelgradeBelgrade, Serbia
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Βasaric, D
, 
V Pesic

V Pesic

University of Belgrade, Faculty of Agriculture, Department of GeneticsBelgrade, Serbia
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Pesic, V
 oraz 
J Djordjevic-Pesic

J Djordjevic-Pesic

Medical School "Dr. Milenko Hadzic," NisBelgrade, Serbia
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Djordjevic-Pesic, J
  
Otwarty dostęp | 28 sie 2019
Duplication of the SOX3 gene in an sry-negative 46,XX male with associated congenital anomalies of kidneys and the urinary tract: Case report and review of the literature
V Tasic

V Tasic

Medical Faculty SkopjeSkopje, Republic of Macedonia
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Tasic, V
, 
A Mitrotti

A Mitrotti

Division of Nephrology, Columbia UniversityNew York, NY, USA
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Mitrotti, A
, 
FG Riepe

FG Riepe

Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University Hospital Schleswig-Holstein, Christian-Albrechts University KielKiel, Germany
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Riepe, FG
, 
AE Kulle

AE Kulle

Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University Hospital Schleswig-Holstein, Christian-Albrechts University KielKiel, Germany
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Kulle, AE
, 
N Laban

N Laban

Medical Faculty SkopjeSkopje, Republic of Macedonia
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Laban, N
, 
M Polenakovic

M Polenakovic

Research Centre for Genetic Engineering and Biotechnology "Georgi D. Efremov," Macedonian Academy of Sciences and ArtsSkopje, Republic of Macedonia
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Polenakovic, M
, 
D Plaseska-Karanfilska

D Plaseska-Karanfilska

Research Centre for Genetic Engineering and Biotechnology "Georgi D. Efremov," Macedonian Academy of Sciences and ArtsSkopje, Republic of Macedonia
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Plaseska-Karanfilska, D
, 
S Sanna-Cherchi

S Sanna-Cherchi

Division of Nephrology, Columbia UniversityNew York, NY, USA
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Sanna-Cherchi, S
, 
M Kostovski

M Kostovski

Medical Faculty SkopjeSkopje, Republic of Macedonia
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Kostovski, M
 oraz 
Z Gucev

Z Gucev

Medical Faculty SkopjeSkopje, Republic of Macedonia
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Gucev, Z
  
Otwarty dostęp | 28 sie 2019
Achondrogenesis type 2 in a newborn with a novel mutation on the COL2A1 gene
P Dogan

P Dogan

Department of Pediatrics, Division of Neonatology, University of Health Sciences, Bursa Yuksek Ihtisas Teaching HospitalBursa, Turkey
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Dogan, P
, 
IG Varal

IG Varal

Department of Pediatrics, Division of Neonatology, University of Health Sciences, Bursa Yuksek Ihtisas Teaching HospitalBursa, Turkey
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Varal, IG
, 
O Gorukmez

O Gorukmez

Department of Genetics, University of Health Sciences, Bursa Yuksek Ihtisas Teaching HospitalBursa, Turkey
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Gorukmez, O
, 
MO Akkurt

MO Akkurt

Department of Obstetrics and Gynecology, Division of Perinatology, University of Health Sciences, Bursa Yuksek Ihtisas Teaching HospitalBursa, Turkey
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Akkurt, MO
 oraz 
A Akdag

A Akdag

Department of Pediatrics, Division of Neonatology, University of Health Sciences, Bursa Yuksek Ihtisas Teaching HospitalBursa, Turkey
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Akdag, A
  
Otwarty dostęp | 28 sie 2019
A novel c.973G>T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family
P Karimzadeh

P Karimzadeh

  • Pediatric Neurology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical SciencesTehran, Islamic Republic of Iran
  • Department of Pediatric Neurology, Mofid Children's Hospital, Faculty of Medicine, Shahid Beheshti University of Medical SciencesTehran, Islamic Republic of Iran
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Karimzadeh, P
, 
S Parvizi Omran

S Parvizi Omran

Department of Biology, Damghan Branch, Islamic Azad UniversityDamghan, Islamic Republic of Iran
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Parvizi Omran, S
, 
H Ghaedi

H Ghaedi

Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical SciencesTehran, Islamic Republic of Iran
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Ghaedi, H
 oraz 
MD Omrani

MD Omrani

Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical SciencesTehran, Islamic Republic of Iran
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Omrani, MD
  

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