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The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

PloS one, 2016-12, Vol.11 (12), p.e0167984-e0167984

2016

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Individual capacity for DNA repair and maintenance of genomic integrity: a fertile ground for studies in the field of assisted reproduction

Biotechnology, biotechnological equipment, 2016-05, Vol.30 (3), p.419-433

2016

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Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

American journal of human genetics, 2003-05, Vol.72 (5), p.1293-1299

2003

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LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient

Case reports in genetics, 2018, Vol.2018, p.3028145-3

2018

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Positive association between a polymorphic locus near the LBX1 gene and predisposition of idiopathic scoliosis in Southeastern European population

Journal of applied biomedicine, 2019-09, Vol.17 (3), p.184-189

2019

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A familial case of severe infantile nephronophthisis explained by oligogenic inheritance

European journal of medical genetics, 2017-06, Vol.60 (6), p.321-325

2017

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Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report

Human pathology, 2016-01, Vol.47 (1), p.144-149

2016

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Positive Association between TGFB1 Gene and Susceptibility to Idiopathic Scoliosis in Bulgarian Population

Analytical cellular pathology (Amsterdam), 2018-01, Vol.2018, p.6836092-6

2018

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No evidence of association between 118A>G OPRM1 polymorphism and heroin dependence in a large Bulgarian case–control sample

Drug and alcohol dependence, 2011-08, Vol.117 (1), p.62-65

2011

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Transmission disequilibrium of DISC1 haplotypes in Bulgarian families with affective disorder

Psychiatry research, 2013-12, Vol.210 (3), p.1320-1321

2013

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Investigation of candidate genes reveals significant statistical epistasis between DISC1 and TPH2 in Bulgarian affective disorder patients

Biotechnology, biotechnological equipment, 2017-11, Vol.31 (6), p.1178-1183

2017

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Role of the IL-6 Gene in the Etiopathogenesis of Idiopathic Scoliosis

Analytical cellular pathology (Amsterdam), 2015-01, Vol.2015, p.621893-5

2015

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MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients

Neuromuscular disorders : NMD, 2008-08, Vol.18 (8), p.667-670

2008

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Metabolite profile of a mouse model of Charcot-Marie-Tooth type 2D neuropathy: implications for disease mechanisms and interventions

Biology open, 2016-07, Vol.5 (7), p.908-920

2016

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Evidence of an association between bipolar disorder and rs16917237 in the BDNF gene in a Bulgarian sample

Psychiatric genetics, 2013-06, Vol.23 (3), p.141-142

2013

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Frequency and application of the hot spot BRAF gene mutation (p.V600E) in the diagnostic strategy for Hereditary Nonpolyposis Colorectal Cancer

Cancer detection and prevention, 2007-01, Vol.31 (3), p.254-256

2007

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Investigation of Predictive Potential of TPH1 Common Polymorphism in Idiopathic Scoliosis

Journal of clinical and experimental investigations, 2016-09, Vol.7 (3), p.216

2016

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Association Study between Idiopathic Scoliosis and Polymorphic Variants of VDR, IGF-1, and AMPD1 Genes

Genetics Research International, 2015-01, Vol.2015, p.852196-6

2015

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Novel MLH1 frameshift mutation in an extended hereditary nonpolyposis colorectal cancer family

World journal of gastroenterology : WJG, 2006-12, Vol.12 (48), p.7848

2006

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A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients

Neurogenetics, 2007-08, Vol.8 (3), p.225-229

2007

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CHEK2 I157T and endometrial cancer

DNA and cell biology, 2009-01, Vol.28 (1), p.9

2009

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Association Between IL-6 and MMP3 Common Genetic Polymorphisms and Idiopathic Scoliosis in Bulgarian Patients: A Case-control Study

Spine (Philadelphia, Pa. 1976), 2016-05, Vol.41 (9), p.785-791

2016

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Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

Individual capacity for DNA repair and maintenance of genomic integrity: a fertile ground for studies in the field of assisted reproduction

Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient

Positive association between a polymorphic locus near the LBX1 gene and predisposition of idiopathic scoliosis in Southeastern European population

A familial case of severe infantile nephronophthisis explained by oligogenic inheritance

Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report

Positive Association between TGFB1 Gene and Susceptibility to Idiopathic Scoliosis in Bulgarian Population

No evidence of association between 118A>G OPRM1 polymorphism and heroin dependence in a large Bulgarian case–control sample

Transmission disequilibrium of DISC1 haplotypes in Bulgarian families with affective disorder

Investigation of candidate genes reveals significant statistical epistasis between DISC1 and TPH2 in Bulgarian affective disorder patients

Role of the IL-6 Gene in the Etiopathogenesis of Idiopathic Scoliosis

Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients

MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients

Metabolite profile of a mouse model of Charcot-Marie-Tooth type 2D neuropathy: implications for disease mechanisms and interventions

Erratum to: Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients

Evidence of an association between bipolar disorder and rs16917237 in the BDNF gene in a Bulgarian sample

Frequency and application of the hot spot BRAF gene mutation (p.V600E) in the diagnostic strategy for Hereditary Nonpolyposis Colorectal Cancer

Investigation of Predictive Potential of TPH1 Common Polymorphism in Idiopathic Scoliosis

Association Study between Idiopathic Scoliosis and Polymorphic Variants of VDR, IGF-1, and AMPD1 Genes

Novel MLH1 frameshift mutation in an extended hereditary nonpolyposis colorectal cancer family

A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients

CHEK2 I157T and endometrial cancer

Association Between IL-6 and MMP3 Common Genetic Polymorphisms and Idiopathic Scoliosis in Bulgarian Patients: A Case-control Study

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