Maria V. Orlova

Moscow, MOW, Russian Federation

Last Updated: 09/26/2026

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Found 11 publications

Case Report: Dual pathogenic mechanism of a PRKG2 missense variant underlies an attenuated phenotype of acromesomelic dysplasia.

Case Report: Dual pathogenic mechanism of a PRKG2 missense variant underlies an attenuated phenotype of acromesomelic dysplasia.

Journal: Frontiers in genetics

Published: September 19, 2025

Mitochondrial Complex IV Deficiency Nuclear Type 11 Caused by a Novel Start-Lost Variant in the COX20 Gene.

Mitochondrial Complex IV Deficiency Nuclear Type 11 Caused by a Novel Start-Lost Variant in the COX20 Gene.

Journal: Genes

Published: August 12, 2025

Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia.

Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia.

Journal: International journal of molecular sciences

Published: June 03, 2025

Case Report: The widening genetic and phenotypic spectrum of ultra-rare PDE4D-related acroscyphodysplasia.

Case Report: The widening genetic and phenotypic spectrum of ultra-rare PDE4D-related acroscyphodysplasia.

Journal: Frontiers in medicine

Published: May 06, 2025

New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to VPS13D Variants.

New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to VPS13D Variants.

Journal: International journal of molecular sciences

Published: April 05, 2024

Detection and Recognition of Voice Commands by a Distributed Acoustic Sensor Based on Phase-Sensitive OTDR in the Smart Home Concept.

Detection and Recognition of Voice Commands by a Distributed Acoustic Sensor Based on Phase-Sensitive OTDR in the Smart Home Concept.

Journal: Sensors (Basel, Switzerland)

Published: January 29, 2024

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.

Journal: Human mutation

Published: June 09, 2023

Generation of induced pluripotent stem cell line (RCMGi009-A) from urine cells of patient with fibrodysplasia ossificans progressiva.

Generation of induced pluripotent stem cell line (RCMGi009-A) from urine cells of patient with fibrodysplasia ossificans progressiva.

Journal: Stem cell research

Published: March 24, 2023

Generation of induced pluripotent stem cell line (RCMGi008-A) from human skin fibroblasts of a cystic fibrosis patient with compound heterozygous F508del/CFTRdele2.3 mutations in CFTR gene.

Generation of induced pluripotent stem cell line (RCMGi008-A) from human skin fibroblasts of a cystic fibrosis patient with compound heterozygous F508del/CFTRdele2.3 mutations in CFTR gene.

Journal: Stem cell research

Published: June 12, 2022

Generation of two induced pluripotent stem cell lines (RCMGi005-A/B) from human skin fibroblasts of a cystic fibrosis patient with homozygous F508del mutation in CFTR gene.

Generation of two induced pluripotent stem cell lines (RCMGi005-A/B) from human skin fibroblasts of a cystic fibrosis patient with homozygous F508del mutation in CFTR gene.

Journal: Stem cell research

Published: May 04, 2022

Training abroad? Not so difficult.

Training abroad? Not so difficult.

Journal: The Lancet. Global health

Published: August 09, 2014

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Last Updated: 09/26/2026