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Journals
Balkan Journal of Medical Genetics
Volume 21 (2018): Issue 2 (December 2018)
Open Access
Balkan Journal of Medical Genetics
Volume 21 (2018): Issue 2 (December 2018)
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13 Articles
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Original Article
Open Access | Dec 31, 2018
Investigation of circulating serum microRNA-328-3p and microRNA-3135a expression as promising novel biomarkers for autism spectrum disorder
NT Popov
NT Popov
,
DS Minchev
DS Minchev
,
MM Naydenov
MM Naydenov
,
IN Minkov
IN Minkov
and
TI Vachev
TI Vachev
Open Access | Dec 31, 2018
Determining specific thyroid transcripts in peripheral blood: A single center study experience
T Makazlieva
T Makazlieva
,
A Eftimov
A Eftimov
,
O Vaskova
O Vaskova
,
T Tripunoski
T Tripunoski
,
D Miladinova
D Miladinova
,
S Risteski
S Risteski
,
H Jovanovic
H Jovanovic
and
Z Jakovski
Z Jakovski
Open Access | Dec 31, 2018
The frequency of EGFR And KRAS mutations in the Turkish population with non-small cell lung cancer and their response to erlotinib therapy
A Demiray
A Demiray
,
A Yaren
A Yaren
,
N Karagenç
N Karagenç
,
F Bir
F Bir
,
AG Demiray
AG Demiray
,
ER Karagür
ER Karagür
,
O Tokgün
O Tokgün
,
L Elmas
L Elmas
and
H Akça
H Akça
Open Access | Dec 31, 2018
Epigenetic signature of chronic maternal stress load during pregnancy might be a potential biomarker for spontaneous preterm birth
M Rogac
M Rogac
and
B Peterlin
B Peterlin
Case Report
Open Access | Dec 31, 2018
Characteristic diagnostic clues of metatropic dysplasia: The lumbothoracic humpback with dumbbell appearance of the long bones
Z Gucev
Z Gucev
,
G Kalcev
G Kalcev
,
N Laban
N Laban
,
Z Bozinovski
Z Bozinovski
,
N Popovski
N Popovski
,
A Saveski
A Saveski
,
B Daskalov
B Daskalov
,
D Plaseska-Karanfilska
D Plaseska-Karanfilska
and
V Tasic
V Tasic
Open Access | Dec 31, 2018
Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion
J Finsterer
J Finsterer
,
C Stöllberger
C Stöllberger
,
A Reining-Festa
A Reining-Festa
,
M Loewe-Grgurin
M Loewe-Grgurin
and
M Gencik
M Gencik
Open Access | Dec 31, 2018
Next generation sequencing identified a novel multi exon deletion of the
NF1
gene in a Chinese pedigree with neurofibromatosis type 1
J Yang
J Yang
,
J-X An
J-X An
,
X-L Liu
X-L Liu
,
Z-Q Wang
Z-Q Wang
,
G-M Xie
G-M Xie
,
X-L Yang
X-L Yang
,
S-J Xu
S-J Xu
,
F Feng
F Feng
and
Y Ni
Y Ni
Open Access | Dec 31, 2018
The role of next generation sequencing in the differential diagnosis of caroli’s syndrome
B Smolović
B Smolović
,
D Muhović
D Muhović
,
A Hodžić
A Hodžić
,
G Bergant
G Bergant
and
B Peterlin
B Peterlin
Open Access | Dec 31, 2018
A novel mutation in a newborn baby leading to glycogen storage disease type Ia
S Dorum
S Dorum
and
O Gorukmez
O Gorukmez
Open Access | Dec 31, 2018
Rare case of a heterozygous microdeletion 9q21.11-q21.2: Clinical and genetic characteristics
HY Ivanov
HY Ivanov
,
V Stoyanova
V Stoyanova
,
I Ivanov
I Ivanov
,
A Linev
A Linev
,
R Vazharova
R Vazharova
,
S Ivanov
S Ivanov
,
L Balabanski
L Balabanski
and
D Toncheva
D Toncheva
Open Access | Dec 31, 2018
A novel
de novo
paracentric inversion [inv(20)(q13.1q13.3)] accompanied by an 11q14.3-q21 microdeletion in a pediatric patient with an intellectual disability
S Zachaki
S Zachaki
,
E Kouvidi
E Kouvidi
,
A Mitrakos
A Mitrakos
,
L Lazaros
L Lazaros
,
A Pantou
A Pantou
,
A Mavrou
A Mavrou
,
M Tzetis
M Tzetis
and
KN Manola
KN Manola
Open Access | Dec 31, 2018
Prenatal diagnosis of a new case:
De novo
balanced non-Robertsonian translocation involving t(15;22)(p11.2;q11.2)
Eİ Atli
Eİ Atli
,
H Gurkan
H Gurkan
,
E Atli
E Atli
,
H Tozkir
H Tozkir
,
GF Varol
GF Varol
and
C İnan
C İnan
Open Access | Dec 31, 2018
A familial case report of a 13;22 chromosomal translocation with recurrent intracytoplasmic sperm injection failure
S Verma
S Verma
,
R Shah
R Shah
,
A Bhat
A Bhat
,
GR Bhat
GR Bhat
,
R Dada
R Dada
and
R Kumar
R Kumar
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