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Journals
Balkan Journal of Medical Genetics
Volume 24 (2021): Issue 2 (November 2021)
Open Access
Balkan Journal of Medical Genetics
Volume 24 (2021): Issue 2 (November 2021)
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14 Articles
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Original Article
Open Access | Jun 05, 2022
Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study
M Rogac
M Rogac
,
D Neubauer
D Neubauer
,
L Leonardis
L Leonardis
,
N Pecaric
N Pecaric
,
M Meznaric
M Meznaric
,
A Maver
A Maver
,
W Sperl
W Sperl
,
BM Garavaglia
BM Garavaglia
,
E Lamantea
E Lamantea
and
B Peterlin
B Peterlin
Open Access | Jun 05, 2022
Array-Based Comparative Genomic Hybridization Analysis in Children with Developmental Delay/Intellectual Disability
A Türkyılmaz
A Türkyılmaz
,
BB Geckinli
BB Geckinli
,
E Tekin
E Tekin
,
EA Ates
EA Ates
,
O Yarali
O Yarali
,
AH Cebi
AH Cebi
and
A Arman
A Arman
Open Access | Jun 05, 2022
Determination of Cystic Fibrosis Mutation Frequency in Preterm and Term Neonates with Respiratory Tract Problems
S Tanriverdi
S Tanriverdi
,
M Polat
M Polat
and
H Onay
H Onay
Open Access | Jun 05, 2022
Frequencies of the
MEFV
Gene Mutations in Azerbaijan
LS Huseynova
LS Huseynova
,
SN Mammadova
SN Mammadova
and
KAA Aliyeva
KAA Aliyeva
Open Access | Jun 05, 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
,
X Fan
X Fan
,
Y Nie
Y Nie
,
Z Zheng
Z Zheng
and
S Hu
S Hu
Open Access | Jun 05, 2022
Risk Factors of Venous Thromboembolism in Sudanese Pregnant Women
EK Abdalhabib
EK Abdalhabib
,
A Alfeel
A Alfeel
,
EI Ali
EI Ali
,
IK Ibrahim
IK Ibrahim
,
AA Mobarki
AA Mobarki
,
G Dobie
G Dobie
,
HA Hamali
HA Hamali
and
M Saboor
M Saboor
Open Access | Jun 05, 2022
Targeted microRNA Profiling in Gastric Cancer with Clinical Assessement
H Pehlevan Özel
H Pehlevan Özel
,
T Dinç
T Dinç
,
RS Tiryaki
RS Tiryaki
,
AG Keşküş
AG Keşküş
,
Ö Konu
Ö Konu
,
SI Kayilioğlu
SI Kayilioğlu
and
F Coşkun
F Coşkun
Open Access | Jun 05, 2022
Association of Relative Telomere Length and Risk of High Human Papillomavirus Load in Cervical Epithelial Cells
A H Albosale
A H Albosale
and
E V Mashkina
E V Mashkina
Case Report
Open Access | Jun 05, 2022
Phenotypic Variability of 17q12 Microdeletion Syndrome – Three Cases and Review of Literature
A Țuțulan-Cuniță
A Țuțulan-Cuniță
,
AG Pavel
AG Pavel
,
L Dimos
L Dimos
,
M Nedelea
M Nedelea
,
A Ursuleanu
A Ursuleanu
,
AT Neacșu
AT Neacșu
,
M Budișteanu
M Budișteanu
and
D Stambouli
D Stambouli
Open Access | Jun 05, 2022
Having Multiple Renal Cysts in a Young Adult is Not Always a Sign of Polycystic Kidney Disease
K Kaynar
K Kaynar
,
S Kayıpmaz
S Kayıpmaz
,
AH Çebi
AH Çebi
and
Ş Hüseynova
Ş Hüseynova
Open Access | Jun 05, 2022
de novo TINF2
C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita
SA Kocheva
SA Kocheva
,
M Gjorgjievska
M Gjorgjievska
,
K Martinova
K Martinova
,
Z Antevska-Trajkova
Z Antevska-Trajkova
,
A Jovanovska
A Jovanovska
and
D Plaseska-Karanfilska
D Plaseska-Karanfilska
Open Access | Jun 05, 2022
Novel
GPC3
Gene Mutation in Simpson-Golabi-Behmel Syndrome with Endocrine Anomalies: A Case Report
W Bu
W Bu
,
M Zhu
M Zhu
,
S Li
S Li
,
H Liu
H Liu
and
X Liu
X Liu
Open Access | Jun 05, 2022
Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare
NF1
: c.5392C>T Mutation
DB Sayın Kocakap
DB Sayın Kocakap
,
Ö Gündüz
Ö Gündüz
,
L Özer
L Özer
and
M Durak
M Durak
Open Access | Jun 05, 2022
48,XYYY: A Rare Case Report
AS Sabnis
AS Sabnis
and
D Bhusare
D Bhusare
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