Ekaterina Lozier - Concepedia

Author

Ekaterina Lozier

Also Known As

E. Lozier, E. R. Lozier, E.R. Lozier, E.R. Tolmacheva, Ekaterina Lozier, Ekaterina R. Lozier

Publications

154

Citations

H-Index

Concepts

All Affiliations

Ekaterina Lozier is an author at Research Centre for Medical Genetics specializing in medicine, genetics, and developmental biology.

#	Concept	H-Index	Publications	Citations
1	Medicine	3	3	127
2	Neuroscience	2	2	90
3	Molecular Genetics	1	1	57
4	Pathology	1	1	37
5	Brain Development	1	1	33

Ekaterina Lozier

Publications

146

Citations

H-Index

Page 1

	Year	Citations
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy Frédéric Tran Mau‐Them, Laurent Guibaud, Laurence Duplomb, Genetics in Medicine Developmental BiologyIntronless Irf2bplDevelopmental Epileptic EncephalopathyGenetic DisorderGenetics	2018	57
De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features Ekaterina Lozier, Fedor A. Konovalov, Ilya Kanivets, Journal of Human Genetics Genetic DisorderGeneticsFragile X SpectrumPathologyDisease Gene Identification	2018	37
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features Marcello Scala, Geok Lin Chua, Cheen Fei Chin, European Journal of Human Genetics Biallelic Mfsd2a VariantsDevelopmental AnomalyDevelopmental BiologyBrain DevelopmentGenetic Disorder	2020	33
Ataxia with Oculomotor Apraxia Type 4 with PNKP Common “Portuguese” and Novel Mutations in Two Belarusian Families G. E. Rudenskaya, Andrey V. Marakhonov, Olga Shchagina, Journal of Pediatric Genetics	2019	19

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