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Volume 21 (2018): Issue 2 (Dec 2018)
in
Balkan Journal of Medical Genetics
Original Article
Investigation of circulating serum microRNA-328-3p and microRNA-3135a expression as promising novel biomarkers for autism spectrum disorder
Determining specific thyroid transcripts in peripheral blood: A single center study experience
The frequency of EGFR And KRAS mutations in the Turkish population with non-small cell lung cancer and their response to erlotinib therapy
Epigenetic signature of chronic maternal stress load during pregnancy might be a potential biomarker for spontaneous preterm birth
Case Report
Characteristic diagnostic clues of metatropic dysplasia: The lumbothoracic humpback with dumbbell appearance of the long bones
Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion
Next generation sequencing identified a novel multi exon deletion of the
NF1
gene in a Chinese pedigree with neurofibromatosis type 1
The role of next generation sequencing in the differential diagnosis of caroli’s syndrome
A novel mutation in a newborn baby leading to glycogen storage disease type Ia
Rare case of a heterozygous microdeletion 9q21.11-q21.2: Clinical and genetic characteristics
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
Prenatal diagnosis of a new case:
De novo
balanced non-Robertsonian translocation involving t(15;22)(p11.2;q11.2)
A familial case report of a 13;22 chromosomal translocation with recurrent intracytoplasmic sperm injection failure
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Journal + Issues
Balkan Journal of Medical Genetics
Journal Information
Online ISSN:
2199-5761
First Published:
10 Oct 2007
Language:
English
Publisher:
Sciendo
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