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Fedor A. Konovalov

15

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Author response for "Mutation in PHACTR1 Associated with Multifocal Epilepsy with Infantile Spasms and Hypsarrhythmia"

2021
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Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia.

2021 Clinical Genetics
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Special Issue: Breeding Towards Agricultural Sustainability - Invited

2021
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Autosomal dominant spastic paraplegias

2021 Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova
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Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene.

2021 European Journal of Human Genetics
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Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population.

2021 Genes
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Complex Transposon Insertion as a Novel Cause of Pompe Disease

2021 International Journal of Molecular Sciences
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Genetic diversity, distribution and domestication history of the neglected GGAtAt genepool of wheat

2021 bioRxiv
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Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene.

2020 Journal of neuromuscular diseases
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De novo nonsense mutation in WHSC1 ( NSD2 ) in patient with intellectual disability and dysmorphic features

2018 Journal of Human Genetics
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