Found: 30
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First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Human cytomegalovirus DNA detection in a recurrent glioblastoma multiforme tumour, but not in whole blood: a case report and discussion about the HCMV latency and therapy perspectives.
- Published in:
- Journal of NeuroVirology, 2020, v. 26, n. 6, p. 984, doi. 10.1007/s13365-020-00901-9
- By:
- Publication type:
- Article
One Novel and One Recurrent Mutation in IGHMBP2 Gene, Causing Severe Spinal Muscular Atrophy Respiratory Distress 1 With Onset Soon After Birth.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Arginase deficiency in Bulgaria: first cases and potential endemic region for the disorder.
- Published in:
- Journal of Genetics, 2023, v. 102, n. 1, p. 1, doi. 10.1007/s12041-022-01399-2
- By:
- Publication type:
- Article
Novel insights on GTPBP3‐associated hypertrophic cardiomyopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1804, doi. 10.1002/ajmg.a.63205
- By:
- Publication type:
- Article
First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1020, doi. 10.1002/ajmg.a.61110
- By:
- Publication type:
- Article
Diagnostic, grading and prognostic role of a restricted miRNAs signature in primary and metastatic brain tumours. Discussion on their therapeutic perspectives.
- Published in:
- Molecular Genetics & Genomics, 2022, v. 297, n. 2, p. 357, doi. 10.1007/s00438-021-01851-5
- By:
- Publication type:
- Article
Seven Years of Selective Genetic Screening Program and Follow-Up of Asymptomatic Carriers With Hereditary Transthyretin Amyloidosis in Bulgaria.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.844595
- By:
- Publication type:
- Article
E-SKILLS IN THE KNOWLEDGE SOCIETY. CONTRIBUTION OF INTEL EDUCATION PROGRAMS.
- Published in:
- eLearning & Software for Education, 2010, p. 1
- By:
- Publication type:
- Article
Case 2: A 20-month-old boy with asymmetric growth of the legs.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Different methylation patterns in BWS/SRS cases clarified by MS-MLPA.
- Published in:
- Molecular Biology Reports, 2013, v. 40, n. 1, p. 263, doi. 10.1007/s11033-012-2057-2
- By:
- Publication type:
- Article
Bulgarian mutation spectrum in Cadasil: Our experience.
- Published in:
- Rad Hrvatske Akademije Znanosti i Umjetnosti. Medicinske Znanosti, 2021, v. 547, n. 54/55, p. 10, doi. 10.21857/yrvgqtezr9
- By:
- Publication type:
- Article
A Unified Rapid PCR Method for Detection of Normal and Expanded Trinucleotide Alleles of CAG Repeats in Huntington Chorea and CGG Repeats in Fragile X Syndrome.
- Published in:
- Molecular Biotechnology, 2010, v. 45, n. 2, p. 150, doi. 10.1007/s12033-010-9260-y
- By:
- Publication type:
- Article
Molecular and Clinicopathological Aspects of Prostate Cancer in Bulgarian Probands.
- Published in:
- Pathology & Oncology Research, 2015, v. 21, n. 4, p. 969, doi. 10.1007/s12253-015-9915-x
- By:
- Publication type:
- Article
Implementation and sustainability of a global ICT company's programme to help teachers integrate technology into learning and teaching in Germany, France and the UK.
- Published in:
- Research in Learning Technology, 2011, v. 19, p. 170, doi. 10.3402/rlt.v19s1/7802
- By:
- Publication type:
- Article
CYP21A2 Intron 2 Genetic Variants Might Be Associated with the Clinical Characteristics of Women with PCOS.
- Published in:
- Biomedicines, 2024, v. 13, n. 7, p. 1528, doi. 10.3390/biomedicines12071528
- By:
- Publication type:
- Article
Gastrointestinal Manifestations in Hereditary Transthyretin Amyloidosis associated with Glu89Gln Mutation.
- Published in:
- Journal of Gastrointestinal & Liver Diseases, 2019, v. 28, n. 4, p. 421, doi. 10.15403/jgld-362
- By:
- Publication type:
- Article
Transthyretin Amyloidosis with Gastrointestinal Manifestation: a Case Report.
- Published in:
- Journal of Gastrointestinal & Liver Diseases, 2019, v. 28, n. 3, p. 359, doi. 10.15403/jgld-422
- By:
- Publication type:
- Article
CARDIAC INVOLVEMENT IN MUSCULAR DYSTROPHIES.
- Published in:
- Advances in Bulgarian Science, 2019, p. 33
- By:
- Publication type:
- Article
Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A.
- Published in:
- Human Mutation, 2007, v. 28, n. 1, p. 54, doi. 10.1002/humu.20403
- By:
- Publication type:
- Article
Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A.
- Published in:
- Human Mutation, 2005, v. 26, n. 3, p. 249, doi. 10.1002/humu.20208
- By:
- Publication type:
- Article
A common haplotype of the annexin A5 (ANXA5) gene promoter is associated with recurrent pregnancy loss.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 5, p. 573, doi. 10.1093/hmg/ddm017
- By:
- Publication type:
- Article
Genetic Modifiers of ALS: The Impact of Chromogranin B P413L in a Bulgarian ALS Cohort.
- Published in:
- Genes, 2024, v. 15, n. 9, p. 1197, doi. 10.3390/genes15091197
- By:
- Publication type:
- Article
Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma.
- Published in:
- Genes, 2024, v. 15, n. 9, p. 1144, doi. 10.3390/genes15091144
- By:
- Publication type:
- Article
Navigating the ALS Genetic Labyrinth: The Role of MAPT Haplotypes.
- Published in:
- Genes, 2023, v. 14, n. 11, p. 2023, doi. 10.3390/genes14112023
- By:
- Publication type:
- Article
A Cautionary Tale of Hypertrophic Cardiomyopathy—From "Benign" Left Ventricular Hypertrophy to Stroke, Atrial Fibrillation, and Molecular Genetic Diagnostics: A Case Report and Review of Literature.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 17, p. 9385, doi. 10.3390/ijms25179385
- By:
- Publication type:
- Article
A large deletion and novel point mutations in the calpain 3 gene ( CAPN3) in Bulgarian LGMD2A patients.
- Published in:
- Neurogenetics, 2007, v. 8, n. 3, p. 225, doi. 10.1007/s10048-007-0083-3
- By:
- Publication type:
- Article
C283Y mutation and other C-terminal nucleotide changes in the γ-sarcoglycan gene in the Bulgarian Gypsy population.
- Published in:
- Human Mutation, 2000, v. 15, n. 5, p. 479, doi. 10.1002/(SICI)1098-1004(200005)15:5<479::AID-HUMU10>3.0.CO;2-#
- By:
- Publication type:
- Article
C283Y mutation and other C-terminal nucleotide changes in the γ-sarcoglycan gene in the Bulgarian gypsy population.
- Published in:
- Human Mutation, 1999, v. 14, n. 1, p. 40, doi. 10.1002/(SICI)1098-1004(1999)14:1<40::AID-HUMU5>3.0.CO;2-R
- By:
- Publication type:
- Article
Large majority of single-nucleotide mutations along the dystrophin gene can be explained by more than one mechanism of mutagenesis.
- Published in:
- Human Mutation, 1997, v. 9, n. 6, p. 537, doi. 10.1002/(SICI)1098-1004(1997)9:6<537::AID-HUMU7>3.0.CO;2-Z
- By:
- Publication type:
- Article