Aitalina L. Sukhomyasova

Yakutsk, SA, Russian Federation

Last Updated: 09/26/2026

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Found 14 publications

From North Asia to South America: Tracing the longest human migration through genomic sequencing.

From North Asia to South America: Tracing the longest human migration through genomic sequencing.

Journal: Science (New York, N.Y.)

Published: May 15, 2025

A familial case of interstitial deletion of the short arm of chromosome 6p22.3-p24.3 in twins with severe delay in psychomotor and speech development.

A familial case of interstitial deletion of the short arm of chromosome 6p22.3-p24.3 in twins with severe delay in psychomotor and speech development.

Journal: Vavilovskii zhurnal genetiki i selektsii

Published: February 18, 2025

Traces of Paleolithic expansion in the Nivkh gene pool based on data on autosomal SNP and Y chromosome polymorphism.

Traces of Paleolithic expansion in the Nivkh gene pool based on data on autosomal SNP and Y chromosome polymorphism.

Journal: Vavilovskii zhurnal genetiki i selektsii

Published: April 03, 2024

Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS).

Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS).

Journal: Genes

Published: July 04, 2023

A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines.

A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines.

Journal: International journal of molecular sciences

Published: February 14, 2023

Origins of SOPH syndrome: A study of 93 Yakut patients with review of C-terminal phenotype.

Origins of SOPH syndrome: A study of 93 Yakut patients with review of C-terminal phenotype.

Journal: Clinical genetics

Published: November 22, 2022

Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome.

Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome.

Journal: International journal of molecular sciences

Published: May 02, 2022

Clinical and genetic description of neuronal ceroid lipofuscinosis 6 type in the yakut family

Clinical and genetic description of neuronal ceroid lipofuscinosis 6 type in the yakut family

Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

Published: September 05, 2021

Pilot Screening of Cell-Free mtDNA in NIPT: Quality Control, Variant Calling, and Haplogroup Determination.

Pilot Screening of Cell-Free mtDNA in NIPT: Quality Control, Variant Calling, and Haplogroup Determination.

Journal: Genes

Published: February 22, 2021

Structural Variability, Expression Profile, and Pharmacogenetic Properties of TMPRSS2 Gene as a Potential Target for COVID-19 Therapy.

Structural Variability, Expression Profile, and Pharmacogenetic Properties of TMPRSS2 Gene as a Potential Target for COVID-19 Therapy.

Journal: Genes

Published: November 16, 2020

Mucopolysaccharidosis-Plus Syndrome.

Mucopolysaccharidosis-Plus Syndrome.

Journal: International journal of molecular sciences

Published: December 09, 2019

Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.

Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.

Journal: Human molecular genetics

Published: August 26, 2016

Showing 1-12 of 14

Last Updated: 09/26/2026