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Journals
Balkan Journal of Medical Genetics
Volume 22 (2019): Issue 2 (November 2019)
Open Access
Balkan Journal of Medical Genetics
Volume 22 (2019): Issue 2 (November 2019)
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14 Articles
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Original Article
Open Access | Dec 21, 2019
Molecular basis of inherited colorectal carcinomas in the Macedonian population: An update
M Staninova-Stojovska
M Staninova-Stojovska
,
N Matevska-Geskovska
N Matevska-Geskovska
,
M Panovski
M Panovski
,
B Angelovska
B Angelovska
,
N Mitrevski
N Mitrevski
,
M Ristevski
M Ristevski
,
R Jovanovic
R Jovanovic
and
AJ Dimovski
AJ Dimovski
Open Access | Dec 21, 2019
Results of liquid biopsy studies by next generation sequencing in patients with advanced stage non-small cell lung cancer: Single center experience from Turkey
M Buyuksimsek
M Buyuksimsek
,
M Togun
M Togun
,
Kara I Oguz
Kara I Oguz
,
A Bisgin
A Bisgin
,
I Boga
I Boga
,
M Tohumcuoglu
M Tohumcuoglu
,
A Ogul
A Ogul
,
Yetisir A Evren
Yetisir A Evren
,
B Sahin
B Sahin
,
HE Sumbul
HE Sumbul
and
C Mirili
C Mirili
Open Access | Dec 21, 2019
TWIST1
Gene expression as a biomarker for predicting primary doxorubicin resistance in breast cancer
S Demir
S Demir
,
MH Müslümanoğlu
MH Müslümanoğlu
,
M Müslümanoğlu
M Müslümanoğlu
,
S Başaran
S Başaran
,
ZZ Çalay
ZZ Çalay
,
A Aydıner
A Aydıner
,
U Vogt
U Vogt
,
T Çakır
T Çakır
,
H Kadıoğlu
H Kadıoğlu
and
S Artan
S Artan
Open Access | Dec 21, 2019
Evaluation of the JAK2V617F mutational burden in patients with philadelphia chromosome negative myeloproliferative neoplasms: A single-center experience
M Popova-Labachevska
M Popova-Labachevska
,
I Panovska-Stavridis
I Panovska-Stavridis
,
A Eftimov
A Eftimov
,
Nestorovska A Kapedanovska
Nestorovska A Kapedanovska
,
L Cevreska
L Cevreska
,
M Ivanovski
M Ivanovski
,
N Ridova
N Ridova
,
S Trajkova
S Trajkova
and
AJ Dimovski
AJ Dimovski
Open Access | Dec 21, 2019
Association of variants in the
CP
,
ATOX1
and
COMMD1
genes with Wilson disease symptoms in Latvia
A Zarina
A Zarina
,
I Tolmane
I Tolmane
,
Z Krumina
Z Krumina
,
AI Tutane
AI Tutane
and
L Gailite
L Gailite
Open Access | Dec 21, 2019
Association of genetic polymorphisms in the
Matrix Gla Protein (MGP)
gene with coronary artery disease and serum mgp levels
S Karsli-Ceppioglu
S Karsli-Ceppioglu
,
S Yazar
S Yazar
,
Y Keskin
Y Keskin
,
M Karaca
M Karaca
,
NE Luleci
NE Luleci
and
T Yurdun
T Yurdun
Open Access | Dec 21, 2019
Chronic obstructive pulmonary disease risk and smoking cessation changes induced by
CHRNA5-A3
and
CHRNB3-A6
variation in a Chinese male population
L Zhao
L Zhao
,
L-Y Zou
L-Y Zou
,
B-F Cheng
B-F Cheng
,
X-J Yu
X-J Yu
,
J-H Zou
J-H Zou
and
W Han
W Han
Open Access | Dec 21, 2019
Association of
VDR
gene variant (rs1544410) with type 2 diabetes in a Pakistani cohort
A Khan
A Khan
,
S Khan
S Khan
,
A Aman
A Aman
,
Y Ali
Y Ali
,
M Jamal
M Jamal
,
B Rahman
B Rahman
,
M Ahmad
M Ahmad
,
M Aasim
M Aasim
,
F Jalil
F Jalil
and
AA Shah
AA Shah
Case Report
Open Access | Dec 21, 2019
Clinical next generation sequencing reveals an
H3F3A
gene as a new potential gene candidate for microcephaly associated with severe developmental delay, intellectual disability and growth retardation
A Maver
A Maver
,
G Čuturilo
G Čuturilo
,
Stojanović J Ruml
Stojanović J Ruml
and
B Peterlin
B Peterlin
Open Access | Dec 21, 2019
Novel genotype in two siblings with 5-α-reductase 2 deficiency: Different clinical course due to the time of diagnosis
M Kocova
M Kocova
,
D Plaseska-Karanfilska
D Plaseska-Karanfilska
,
P Noveski
P Noveski
and
M Kuzmanovska
M Kuzmanovska
Open Access | Dec 21, 2019
Infantile Alexander disease with late onset infantile spasms and hypsarrhythmia
J Paprocka
J Paprocka
,
B Rzepka-Migut
B Rzepka-Migut
,
N Rzepka
N Rzepka
,
A Jezela-Stanek
A Jezela-Stanek
and
E Morava
E Morava
Open Access | Dec 21, 2019
Otopalatodigital syndrome type I: novel characteristics and prenatal manifestations in two siblings
I Joksic
I Joksic
,
G Cuturilo
G Cuturilo
,
A Jurisic
A Jurisic
,
S Djuricic
S Djuricic
,
B Peterlin
B Peterlin
,
M Mijovic
M Mijovic
,
Orlic N Karadzov
Orlic N Karadzov
,
A Egic
A Egic
and
Z Milovanovic
Z Milovanovic
Open Access | Dec 21, 2019
A Novel splice-site mutation on the
MLC1
gene leading to exon 9 skipping and megalencephalic leukoencephalopathy with subcortical cysts in a Turkish patient
A Türkyılmaz
A Türkyılmaz
,
O Ünver
O Ünver
,
G Ekinci
G Ekinci
and
D Türkdoğan
D Türkdoğan
Open Access | Dec 21, 2019
A 7-year-old boy with hand tremors and a novel mutation for L-2-hydroxyglutaric aciduria
A Olgac
A Olgac
,
Orgun L Tekin
Orgun L Tekin
,
FS Ezgü
FS Ezgü
,
G Biberoǧlu
G Biberoǧlu
and
L Tümer
L Tümer
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