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Evoked Potentials in Patients With Wilson Disease

Journal of clinical neurophysiology, 2022-09, Vol.39 (6), p.510-512

2022

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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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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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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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CHEK2 I157T and endometrial cancer

DNA and cell biology, 2009-01, Vol.28 (1), p.9-12

2009

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Association of the OPRM1 Variant rs1799971 (A118G) with Non-Specific Liability to Substance Dependence in a Collaborative de novo Meta-Analysis of European-Ancestry Cohorts

Behavior genetics, 2016-03, Vol.46 (2), p.151-169

2016

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Linkage analysis in bipolar pedigrees adds support for a susceptibility locus on 21q22

Psychiatric genetics, 2004-06, Vol.14 (2), p.101-106

2004

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Molecular screening for hereditary nonpolyposis colorectal cancer in Bulgaria

Central European journal of medicine, 2006-06, Vol.1 (2), p.128-135

2006

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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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A simple method for detection of factor V R506Q (Leiden) mutation in dried blood spots

Clinica chimica acta, 1999-06, Vol.284 (1), p.89-92

1999

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No evidence of association between 118AG 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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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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NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24

Biochemical and biophysical research communications, 2005-07, Vol.332 (4), p.982-992

2005

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Genomewide Scan and Fine-Mapping Linkage Studies in Four European Samples with Bipolar Affective Disorder Suggest a New Susceptibility Locus on Chromosome 1p35-p36 and Provides Further Evidence of Loci on Chromosome 4q31 and 6q24

American journal of human genetics, 2005-12, Vol.77 (6), p.1102-1111

2005

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SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

Annals of neurology, 2004-05, Vol.55 (5), p.713-720

2004

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Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease

Human mutation, 2003-08, Vol.22 (2), p.129-135

2003

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Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments

Human genetics, 2005-03, Vol.116 (4), p.262-266

2005

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A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain acyl-CoA dehydrogenase gene locus : Clinical and evolutionary consideration

Pediatric research, 1997-02, Vol.41 (2), p.201-209

1997

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SSCP analysis: A blind sensitivity trial

Human mutation, 1997, Vol.10 (1), p.65-70

1997

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Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families

Molecular vision, 2006-08, Vol.12, p.909-914

2006

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Deletion analysis of Bulgarian SMA families

Human mutation, 1998, Vol.12 (1), p.33-38

1998

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Evoked Potentials in Patients With Wilson Disease

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

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

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

CHEK2 I157T and endometrial cancer

Association of the OPRM1 Variant rs1799971 (A118G) with Non-Specific Liability to Substance Dependence in a Collaborative de novo Meta-Analysis of European-Ancestry Cohorts

Linkage analysis in bipolar pedigrees adds support for a susceptibility locus on 21q22

Molecular screening for hereditary nonpolyposis colorectal cancer in Bulgaria

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

A simple method for detection of factor V R506Q (Leiden) mutation in dried blood spots

No evidence of association between 118AG OPRM1 polymorphism and heroin dependence in a large Bulgarian case-control sample

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

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

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24

Genomewide Scan and Fine-Mapping Linkage Studies in Four European Samples with Bipolar Affective Disorder Suggest a New Susceptibility Locus on Chromosome 1p35-p36 and Provides Further Evidence of Loci on Chromosome 4q31 and 6q24

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

The First Genomewide Interaction and Locus-Heterogeneity Linkage Scan in Bipolar Affective Disorder: Strong Evidence of Epistatic Effects between Loci on Chromosomes 2q and 6q

Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease

Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments

A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain acyl-CoA dehydrogenase gene locus : Clinical and evolutionary consideration

SSCP analysis: A blind sensitivity trial

Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families

Deletion analysis of Bulgarian SMA families

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