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Journals
Balkan Journal of Medical Genetics
Volume 22 (2019): Issue 1 (June 2019)
Open Access
Balkan Journal of Medical Genetics
Volume 22 (2019): Issue 1 (June 2019)
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14 Articles
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Original Article
Open Access | Aug 28, 2019
Copy number variations in female infertility in China
W Huang
W Huang
,
J Wang
J Wang
,
M Pang
M Pang
,
Q Zhao
Q Zhao
,
L Kong
L Kong
,
Y Mao
Y Mao
,
W Li
W Li
and
Β Liang
Β Liang
Open Access | Aug 28, 2019
A systematic clinical review of prenatally diagnosed tetrasomy 9p
M Vinkšel
M Vinkšel
,
M Volk
M Volk
,
B Peterlin
B Peterlin
and
L Lovrecic
L Lovrecic
Open Access | Aug 28, 2019
Increased expression of pentraxin 3 in placental tissues from patients with unexplained recurrent pregnancy loss
S Zeybek
S Zeybek
,
E Tepeli
E Tepeli
,
GO Cetin
GO Cetin
,
V Caner
V Caner
,
H Senol
H Senol
,
B Yildirim
B Yildirim
and
G Bagci
G Bagci
Open Access | Aug 28, 2019
Prenatal diagnosis of organic acidemias at a tertiary center
A Tanacan
A Tanacan
,
BB Gurbuz
BB Gurbuz
,
E Aydin
E Aydin
,
M Erden
M Erden
,
T Coskun
T Coskun
and
MS Beksac
MS Beksac
Open Access | Aug 28, 2019
Cystic fibrosis mutation spectrum in north macedonia: A step toward personalized therapy
M Terzic
M Terzic
,
M Jakimovska
M Jakimovska
,
S Fustik
S Fustik
,
T Jakovska
T Jakovska
,
E Sukarova-Stefanovska
E Sukarova-Stefanovska
and
D Plaseska-Karanfilska
D Plaseska-Karanfilska
Open Access | Aug 28, 2019
Associations between vaspin rs2236242 gene polymorphism, walking time and the risk of metabolic syndrome
E Suliga
E Suliga
,
D Kozieł
D Kozieł
,
E Cieśla
E Cieśla
,
D Rębak
D Rębak
,
M Wawszczak
M Wawszczak
,
W Adamus-Białek
W Adamus-Białek
,
E Naszydłowska
E Naszydłowska
,
A Piechowska
A Piechowska
and
S Głuszek
S Głuszek
Open Access | Aug 28, 2019
Comparative expression analysis of human endogenous retrovirus elements in peripheral blood of children with specific language impairment
DS Minchev
DS Minchev
,
NT Popov
NT Popov
,
SI Naimov
SI Naimov
,
IN Minkov
IN Minkov
and
TI Vachev
TI Vachev
Open Access | Aug 28, 2019
Janus kinase V617F mutation detection in patients with myelofibrosis
D Nikolova
D Nikolova
,
A Yordanov
A Yordanov
,
V Damyanova
V Damyanova
,
A Radinov
A Radinov
and
D Toncheva
D Toncheva
Open Access | Aug 28, 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
,
ND Kha
ND Kha
,
NT Minh
NT Minh
and
LHA Thuy
LHA Thuy
Open Access | Aug 28, 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
and
MD Güner
MD Güner
Case Report
Open Access | Aug 28, 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
,
N Bidzic
N Bidzic
,
V Djordjevic
V Djordjevic
,
Μ Ceranic
Μ Ceranic
,
D Βasaric
D Βasaric
,
V Pesic
V Pesic
and
J Djordjevic-Pesic
J Djordjevic-Pesic
Open Access | Aug 28, 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
,
A Mitrotti
A Mitrotti
,
FG Riepe
FG Riepe
,
AE Kulle
AE Kulle
,
N Laban
N Laban
,
M Polenakovic
M Polenakovic
,
D Plaseska-Karanfilska
D Plaseska-Karanfilska
,
S Sanna-Cherchi
S Sanna-Cherchi
,
M Kostovski
M Kostovski
and
Z Gucev
Z Gucev
Open Access | Aug 28, 2019
Achondrogenesis type 2 in a newborn with a novel mutation on the
COL2A1
gene
P Dogan
P Dogan
,
IG Varal
IG Varal
,
O Gorukmez
O Gorukmez
,
MO Akkurt
MO Akkurt
and
A Akdag
A Akdag
Open Access | Aug 28, 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
,
S Parvizi Omran
S Parvizi Omran
,
H Ghaedi
H Ghaedi
and
MD Omrani
MD Omrani
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