I. Bychkov

发表

Complex Transposon Insertion as a Novel Cause of Pompe Disease

M. Skoblov, F. Konovalov, I. Bychkov, 2021, International journal of molecular sciences.

Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants

I. Bychkov, E. Zakharova, N. Shilova, 2022, Molecular genetics and metabolism reports.

Plasma FGF‐21 and GDF‐15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders

S. Mikhaylova, I. Bychkov, E. Zakharova, 2019, Journal of inherited metabolic disease.

Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape

M. Skoblov, I. Bychkov, G. Baydakova, 2022, npj Genomic Medicine.

Infantile and early childhood onset of mitochondrial myopathy due to mutations in the TK2 gene with a phenotype of spinal muscular atrophy 5q: the first cases in Russia

Z. R. Umakhanova, I. Bychkov, E. Zakharova, 2019, Neuromuscular Diseases.

The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation.

S. Mikhaylova, I. Bychkov, G. Baydakova, 2019, JIMD reports.

α-Galactosidase A/lysoGb3 ratio as a potential marker for Fabry disease in females.

I. Bychkov, G. Baydakova, E. Zakharova, 2019, Clinica chimica acta; international journal of clinical chemistry.

Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: mutational spectrum and phenotypes.

S. Mikhaylova, E. Nikolaeva, A. Degtyareva, 2021, Mitochondrion.

Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape

I. Bychkov, G. Baydakova, A. Filatova, 2022, npj Genomic Medicine.

Alkaptonuria in Russia: mutational spectrum and novel variants.

M. Skoblov, I. Bychkov, G. Baydakova, 2021, European journal of medical genetics.

Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing

M. Skoblov, I. Bychkov, G. Baydakova, 2021, International journal of molecular sciences.

Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C

I. Bychkov, G. Baydakova, A. Filatova, 2021, European Journal of Human Genetics.

Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C

M. Skoblov, I. Bychkov, G. Baydakova, 2021, European journal of human genetics : EJHG.

The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency.

M. Skoblov, T. Strokova, S. Mikhaylova, 2019, Molecular genetics and metabolism.

Mucopolysaccharidosis IVB and sensorineural deafness associated with the CDH23 gene: A unique clinical case

I. Bychkov, G. Baydakova, E. Zakharova, 2022, Pediatric Traumatology, Orthopaedics and Reconstructive Surgery.

Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses

Lidia Gaffke, Karolina Pierzynowska, G. Węgrzyn, 2020, Diagnostics.

Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia

I. Bychkov, Ochir Migiaev, E. Zakharova, 2023, International journal of molecular sciences.

A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings

A. Poliakov, I. Bychkov, O. Shchagina, 2020, Genes.

Overlapping Phenotype of Adult-Onset ALPK3-Cardiomyopathy in the Setting of Two Novel Variants

E. Mershina, D. Zateyshchikov, I. Bychkov, 2022, Cardiology research.

Clinical, Genetic and Orthopedic Characteristics of Desbuquois Dysplasia

I. Bychkov, E. Dadali, V. Kenis, 2021, Traumatology and Orthopedics of Russia.

Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion

I. Bychkov, M. Skoblov, D. Pyankov, 2023, Human Genetics.