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Balkan Journal of Medical Genetics

Tom 24 (2021): Zeszyt 2 (Listopad 2021)

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14 Artykułów

Original Article

Otwarty dostęp | 05 cze 2022
Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study
M Rogac

M Rogac

Clinical Institute of Genomic Medicine, University Medical Center LjubljanaLjubljana, Slovenia
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Rogac, M
, 
D Neubauer

D Neubauer

Department of Child, Adolescent and Developmental Neurology, Children's Hospital, University Medical Center LjubljanaLjubljana, Slovenia
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Neubauer, D
, 
L Leonardis

L Leonardis

Institute of Clinical Neurophysiology, Division of Neurology, University Medical Center LjubljanaLjubljana, Slovenia
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Leonardis, L
, 
N Pecaric

N Pecaric

Department of Radiology, University Medical Center LjubljanaLjubljana, Slovenia
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Pecaric, N
, 
M Meznaric

M Meznaric

Institute of Anatomy, Faculty of Medicine, University of LjubljanaLjubljana, Slovenia
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Meznaric, M
, 
A Maver

A Maver

Clinical Institute of Genomic Medicine, University Medical Center LjubljanaLjubljana, Slovenia
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Maver, A
, 
W Sperl

W Sperl

Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical UniversitySalzburg, Austria
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Sperl, W
, 
BM Garavaglia

BM Garavaglia

Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico “Carlo Besta”Milan, Italy
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Garavaglia, BM
, 
E Lamantea

E Lamantea

Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico “Carlo Besta”Milan, Italy
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Lamantea, E
 oraz 
B Peterlin

B Peterlin

Clinical Institute of Genomic Medicine, University Medical Center LjubljanaLjubljana, Slovenia
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Peterlin, B
  
Otwarty dostęp | 05 cze 2022
Array-Based Comparative Genomic Hybridization Analysis in Children with Developmental Delay/Intellectual Disability
A Türkyılmaz

A Türkyılmaz

Department of Medical Genetics, Karadeniz Technical University Faculty of MedicineTrabzon, Turkey
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Türkyılmaz, A
, 
BB Geckinli

BB Geckinli

Department of Medical Genetics, Marmara University School of MedicineIstanbul, Turkey
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Geckinli, BB
, 
E Tekin

E Tekin

Department of Pediatric Neurology, Giresun University Faculty of MedicineGiresun, Turkey
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Tekin, E
, 
EA Ates

EA Ates

Department of Medical Genetics, Marmara University Pendik Training and Research HospitalIstanbul, Turkey
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Ates, EA
, 
O Yarali

O Yarali

Clinics of Medical Genetics, Erzurum City HospitalErzurum, Turkey
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Yarali, O
, 
AH Cebi

AH Cebi

Department of Medical Genetics, Karadeniz Technical University Faculty of MedicineTrabzon, Turkey
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Cebi, AH
 oraz 
A Arman

A Arman

Department of Medical Genetics, Marmara University School of MedicineIstanbul, Turkey
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Arman, A
  
Otwarty dostęp | 05 cze 2022
Determination of Cystic Fibrosis Mutation Frequency in Preterm and Term Neonates with Respiratory Tract Problems
S Tanriverdi

S Tanriverdi

Department of Pediatrics, Division of Neonatology, Manisa Celal Bayar University Medical SchoolManisa, Turkey
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Tanriverdi, S
, 
M Polat

M Polat

Department of Pediatrics, Division of Pediatric Neurology, Manisa Bayar University Medical SchoolManisa, Turkey
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Polat, M
 oraz 
H Onay

H Onay

Department of Genetics, Ege University Medical SchoolIzmir, Turkey
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Onay, H
  
Otwarty dostęp | 05 cze 2022
Frequencies of the MEFV Gene Mutations in Azerbaijan
LS Huseynova

LS Huseynova

Department of Medical Biology and Genetics, Azerbaijan Medical UniversityBaku City, Azerbaijan
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Huseynova, LS
, 
SN Mammadova

SN Mammadova

Department of Medical Biology and Genetics, Azerbaijan Medical UniversityBaku City, Azerbaijan
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Mammadova, SN
 oraz 
KAA Aliyeva

KAA Aliyeva

Department of Genetics, Baku State UniversityBaku City, Azerbaijan
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Aliyeva, KAA
  
Otwarty dostęp | 05 cze 2022
Single-Nucleotide Polymorphisms in Exonic and Promoter Regions of Transcription Factors of Second Heart Field Associated with Sporadic Congenital Cardiac Anomalies
E Wang

E Wang

Cardiac Surgery Department, Fuwai Hospital, Chinese Academy of Medical Sciences, Peking Union Medical CollegeBeijing, China
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Wang, E
, 
X Fan

X Fan

Clinical Laboratory Center, Beijing An Zhen Hospital, Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel DiseasesBeijing, China
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Fan, X
, 
Y Nie

Y Nie

State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, Chinese Academy of Medical Sciences, Peking Union Medical CollegeBeijing, China
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Nie, Y
, 
Z Zheng

Z Zheng

Cardiac Surgery Department, Fuwai Hospital, Chinese Academy of Medical Sciences, Peking Union Medical CollegeBeijing, China
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Zheng, Z
 oraz 
S Hu

S Hu

  • Cardiac Surgery Department, Fuwai Hospital, Chinese Academy of Medical Sciences, Peking Union Medical CollegeBeijing, China
  • State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, Chinese Academy of Medical Sciences, Peking Union Medical CollegeBeijing, China
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Hu, S
  
Otwarty dostęp | 05 cze 2022
Risk Factors of Venous Thromboembolism in Sudanese Pregnant Women
EK Abdalhabib

EK Abdalhabib

Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Jouf UniversityAl Qurayyat, Saudi Arabia
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Abdalhabib, EK
, 
A Alfeel

A Alfeel

Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, Jazan UniversityJazan, Saudi Arabia
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Alfeel, A
, 
EI Ali

EI Ali

Department of Medical Laboratory Technology, College of Applied Medical Sciences, Northern Borders UniversityArar, Saudi Arabia
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Ali, EI
, 
IK Ibrahim

IK Ibrahim

Department of Hematology, Faculty of Medical Laboratory Sciences, Al Neelain UniversityKhartoum, Sudan
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Ibrahim, IK
, 
AA Mobarki

AA Mobarki

Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, Jazan UniversityJazan, Saudi Arabia
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Mobarki, AA
, 
G Dobie

G Dobie

Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, Jazan UniversityJazan, Saudi Arabia
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Dobie, G
, 
HA Hamali

HA Hamali

Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, Jazan UniversityJazan, Saudi Arabia
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Hamali, HA
 oraz 
M Saboor

M Saboor

  • Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, Jazan UniversityJazan, Saudi Arabia
  • Medical Research Center (MRC), Jazan UniversityJazan, Saudi Arabia
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Saboor, M
  
Otwarty dostęp | 05 cze 2022
Targeted microRNA Profiling in Gastric Cancer with Clinical Assessement
H Pehlevan Özel

H Pehlevan Özel

Department of General Surgery, Health Sciences University, Ankara City HospitalAnkara, Turkey
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Pehlevan Özel, H
, 
T Dinç

T Dinç

Department of General Surgery, Health Sciences University, Ankara City HospitalAnkara, Turkey
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Dinç, T
, 
RS Tiryaki

RS Tiryaki

Department of Molecular Biology and Genetics, Bilkent UniversityAnkara, Turkey
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Tiryaki, RS
, 
AG Keşküş

AG Keşküş

Department of Molecular Biology and Genetics, Bilkent UniversityAnkara, Turkey
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Keşküş, AG
, 
Ö Konu

Ö Konu

Department of Molecular Biology and Genetics, Bilkent UniversityAnkara, Turkey
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Konu, Ö
, 
SI Kayilioğlu

SI Kayilioğlu

Department of General Surgery, Sıtkı Koçman UniversityMuğla, Turkey
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Kayilioğlu, SI
 oraz 
F Coşkun

F Coşkun

Department of General Surgery, Health Sciences University, Ankara City HospitalAnkara, Turkey
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Coşkun, F
  
Otwarty dostęp | 05 cze 2022
Association of Relative Telomere Length and Risk of High Human Papillomavirus Load in Cervical Epithelial Cells
A H Albosale

A H Albosale

  • Department of Medical Laboratory Techniques, Al-Dour Technical Institute, Northern Technical UniversityMosul, Iraq
  • Genetics Department of Academy of Biology and Biotechnology, Southern Federal UniversityRostov-on-Don, Russia
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Albosale, A H
 oraz 
E V Mashkina

E V Mashkina

Genetics Department of Academy of Biology and Biotechnology, Southern Federal UniversityRostov-on-Don, Russia
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Mashkina, E V
  

Case Report

Otwarty dostęp | 05 cze 2022
Phenotypic Variability of 17q12 Microdeletion Syndrome – Three Cases and Review of Literature
A Țuțulan-Cuniță

A Țuțulan-Cuniță

Cytogenomic Medical LaboratoryBucharest, Romania
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Țuțulan-Cuniță, A
, 
AG Pavel

AG Pavel

Cytogenomic Medical LaboratoryBucharest, Romania
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Pavel, AG
, 
L Dimos

L Dimos

Cytogenomic Medical LaboratoryBucharest, Romania
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Dimos, L
, 
M Nedelea

M Nedelea

  • Cytogenomic Medical LaboratoryBucharest, Romania
  • Medical Genetics Department, Carol Davila University of MedicineBucharest, Romania
  • Medical Genetics Department, Filantropia Clinical HospitalBucharest, Romania
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Nedelea, M
, 
A Ursuleanu

A Ursuleanu

Obstetrics & Gynecology Clinic, Prof. Dr. Ioan Cantacuzino Clinical HospitalBucharest, Romania
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Ursuleanu, A
, 
AT Neacșu

AT Neacșu

Cytogenomic Medical LaboratoryBucharest, Romania
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Neacșu, AT
, 
M Budișteanu

M Budișteanu

  • Pediatric Neurology Clinic, Prof. Dr. Alex. Obregia Clinical Hospital of PsychiatryBucharest, Romania
  • Medical Genetics Laboratory, Victor Babes National Institute of PathologyBucharest, Romania
  • Faculty of Medicine, Titu Maiorescu UniversityBucharest, Romania
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Budișteanu, M
 oraz 
D Stambouli

D Stambouli

Cytogenomic Medical LaboratoryBucharest, Romania
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Stambouli, D
  
Otwarty dostęp | 05 cze 2022
Having Multiple Renal Cysts in a Young Adult is Not Always a Sign of Polycystic Kidney Disease
K Kaynar

K Kaynar

Department of Nephrology, Faculty of Medicine, Karadeniz Technical UniversityTrabzon, Turkey
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Kaynar, K
, 
S Kayıpmaz

S Kayıpmaz

Department of Oral Diagnosis and Radiology, Faculty of Dentistry, Karadeniz Technical UniversityTrabzon, Turkey
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Kayıpmaz, S
, 
AH Çebi

AH Çebi

Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical UniversityTrabzon, Turkey
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Çebi, AH
 oraz 
Ş Hüseynova

Ş Hüseynova

Department of Internal Medicine, Faculty of Medicine, Karadeniz Technical UniversityTrabzon, Turkey
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Hüseynova, Ş
  
Otwarty dostęp | 05 cze 2022
de novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita
SA Kocheva

SA Kocheva

Pediatric Clinic for Children's Diseases, Ss. Cyril and Methodius University in Skopje, Faculty of MedicineSkopje, North Macedonia
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Kocheva, SA
, 
M Gjorgjievska

M Gjorgjievska

Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and ArtsSkopje, North Macedonia
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Gjorgjievska, M
, 
K Martinova

K Martinova

Pediatric Clinic for Children's Diseases, Ss. Cyril and Methodius University in Skopje, Faculty of MedicineSkopje, North Macedonia
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Martinova, K
, 
Z Antevska-Trajkova

Z Antevska-Trajkova

Pediatric Clinic for Children's Diseases, Ss. Cyril and Methodius University in Skopje, Faculty of MedicineSkopje, North Macedonia
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Antevska-Trajkova, Z
, 
A Jovanovska

A Jovanovska

Pediatric Clinic for Children's Diseases, Ss. Cyril and Methodius University in Skopje, Faculty of MedicineSkopje, North Macedonia
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Jovanovska, A
 oraz 
D Plaseska-Karanfilska

D Plaseska-Karanfilska

Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and ArtsSkopje, North Macedonia
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Plaseska-Karanfilska, D
  
Otwarty dostęp | 05 cze 2022
Novel GPC3 Gene Mutation in Simpson-Golabi-Behmel Syndrome with Endocrine Anomalies: A Case Report
W Bu

W Bu

Department of Neurology, Shandong Provincial Qianfoshan Hospital, Weifang Medical UniversityJinan, People's Republic of China
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Bu, W
, 
M Zhu

M Zhu

Department of Neurology, the First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan HospitalJinan, People's Republic of China
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Zhu, M
, 
S Li

S Li

Department of Neurology, the First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan HospitalJinan, People's Republic of China
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Li, S
, 
H Liu

H Liu

Department of Neurology, Dingtao People's HospitalHeze, People's Republic of China
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Liu, H
 oraz 
X Liu

X Liu

Department of Neurology, the First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan HospitalJinan, People's Republic of China
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Liu, X
  
Otwarty dostęp | 05 cze 2022
Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation
DB Sayın Kocakap

DB Sayın Kocakap

Department of Medical Genetics, Kırıkkale University Faculty of MedicineKırıkkale, Turkey
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Sayın Kocakap, DB
, 
Ö Gündüz

Ö Gündüz

Department of Dermatology, Kırıkkale University Faculty of MedicineKırıkkale, Turkey
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Gündüz, Ö
, 
L Özer

L Özer

Mikrogen Genetic Diagnostic LaboratoryAnkara, Turkey
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Özer, L
 oraz 
M Durak

M Durak

Department of Dermatology, Kırıkkale University Faculty of MedicineKırıkkale, Turkey
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Durak, M
  
Otwarty dostęp | 05 cze 2022
48,XYYY: A Rare Case Report
AS Sabnis

AS Sabnis

Department of Anatomy, MGM Medical College and HospitalNavi Mumbai, India
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Sabnis, AS
 oraz 
D Bhusare

D Bhusare

Department of Pediatric Surgery, MGM Medical College and HospitalNavi Mumbai, India
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Bhusare, D
  

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