[Molecular basis of human hereditary diseases]

[Main methodological approaches to the identification and diagnosis of monogenic hereditary diseases and problems in the organization of medical care and unified preventive programs].

Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny·2019

Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.

BMC medical genetics·2019

Expression Profiles of Genes-Potential Therapy Targets-and Their Relationship to Survival in Renal Cell Carcinoma.

Doklady. Biochemistry and biophysics·2018

Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.

Clinical genetics·2017

[Marriage and Migratory Characteristic of Circassians (Late 20th Century)].

Genetika·2016

Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies.

Scientific reports·2016

Application of the capillary electrophoresis method for the study of plasma proteins homocysteinylation.

Patologicheskaia fiziologiia i eksperimental'naia terapiia·2017

Monitoring of brightness temperature of suspension of follicular thyroid carcinoma cells in SHF range by radiothermometry.

Patologicheskaia fiziologiia i eksperimental'naia terapiia·2017

Blood serum structures integrated assessment of pathophysiological changes in experimental cerebral ischemia.

Patologicheskaia fiziologiia i eksperimental'naia terapiia·2017

The technology of obtaining multipotent spheroids from limbal mesenchymal stromal cells for reparation of injured eye tissues.

Patologicheskaia fiziologiia i eksperimental'naia terapiia·2017

Problems and prospects of investigating monocyte subsets during the development of inflammation-associated diseases.

Patologicheskaia fiziologiia i eksperimental'naia terapiia·2017

Cytogenetic recapitulation, induced by medical preparations, as the universal stage of formation of urgent protection against damage at organ transplantation.

Patologicheskaia fiziologiia i eksperimental'naia terapiia·2017

Loci Associated With Susceptibility to Biliary Atresia-A Genome-Wide Association Study in Taiwan.

Pediatrics international : official journal of the Japan Pediatric Society·2026

Proteome-wide QTL mapping enables gene-protein-phenotype metabolic network construction in a genetically diverse MASLD mouse model.

bioRxiv : the preprint server for biology·2026

Sequence determinants of pathogenicity in glucose-6-phosphatase linked to glycogen storage disease type 1a.

bioRxiv : the preprint server for biology·2026

Estimating the Penetrance of PRNP Mutations in Chinese Prion Disease Patients based on the Genome Databases.

Genomics, proteomics & bioinformatics·2026

Genome-wide linkage and association mapping identified a novel candidate gene, TaGLK-A1, underlying fructan content in wheat grain.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·2026

Deletion of ARPKD-associated Pkhd1 gene in mice results in decreased Tfap2b expression and eye abnormalities.

Nature communications·2026

Related Experiment Videos

[Molecular basis of human hereditary diseases]

Related Concept Videos

[Main methodological approaches to the identification and diagnosis of monogenic hereditary diseases and problems in the organization of medical care and unified preventive programs].

Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.

Expression Profiles of Genes-Potential Therapy Targets-and Their Relationship to Survival in Renal Cell Carcinoma.

Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.

[Marriage and Migratory Characteristic of Circassians (Late 20th Century)].

Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies.

Application of the capillary electrophoresis method for the study of plasma proteins homocysteinylation.

Monitoring of brightness temperature of suspension of follicular thyroid carcinoma cells in SHF range by radiothermometry.

Blood serum structures integrated assessment of pathophysiological changes in experimental cerebral ischemia.

The technology of obtaining multipotent spheroids from limbal mesenchymal stromal cells for reparation of injured eye tissues.

Problems and prospects of investigating monocyte subsets during the development of inflammation-associated diseases.

Cytogenetic recapitulation, induced by medical preparations, as the universal stage of formation of urgent protection against damage at organ transplantation.

Loci Associated With Susceptibility to Biliary Atresia-A Genome-Wide Association Study in Taiwan.

Proteome-wide QTL mapping enables gene-protein-phenotype metabolic network construction in a genetically diverse MASLD mouse model.

Sequence determinants of pathogenicity in glucose-6-phosphatase linked to glycogen storage disease type 1a.

Estimating the Penetrance of PRNP Mutations in Chinese Prion Disease Patients based on the Genome Databases.

Genome-wide linkage and association mapping identified a novel candidate gene, TaGLK-A1, underlying fructan content in wheat grain.

Deletion of ARPKD-associated Pkhd1 gene in mice results in decreased Tfap2b expression and eye abnormalities.

Related Experiment Videos

[Molecular basis of human hereditary diseases]

Related Concept Videos

Related Articles