Concepedia
Statistics
Publications
10
Citations
333
H-Index
Active since
2018
Affiliations
Research Centre for Medical Genetics(Current)
Pirogov Russian National Research Medical University
Russian Medical Academy of Continuous Professional Education
Broad Institute
Epilepsiezentrum Kleinwachau Gemeinnützige
Ilya Kanivets is an author at Research Centre for Medical Genetics specializing in genetics, medicine, and pathology.
Top concepts
GeneticsMedicinePathologyGenomicsGlycobiologyFragile X SpectrumMolecular GeneticsDevelopmental DelayInherited Metabolic Disease
Publications per year
2018–2022
Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications
Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko et al. · Brain · 2021 · 138 citations · Full text
De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features
Ekaterina Lozier, Fedor A. Konovalov, Ilya Kanivets et al. · Journal of Human Genetics · 2018 · 37 citations
Genetic Disorder, Genetics, Fragile X Spectrum +7
Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of GNAO1 and GNAI1 for the Dominant Disease
Gonzalo P. Solis, Alexey Koval, Tatyana I. Mescheryakova et al. · Cells · 2021 · 36 citations · Full text
Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene
Marina V. Kurkina, Svetlana Mikhaylova, Galina Baydakova et al. · Metabolic Brain Disease · 2020 · 27 citations
Glutaric Aciduria, Genetic Disorder, Genetics +9
Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl
А. N. Semyachkina, Elena Voskoboeva, Ekaterina Zakharova et al. · BMC Medical Genetics · 2019 · 24 citations · Full text
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