Anna V. Degtyareva

8 Trubetskaya Street
Moscow, MOW 119991, Russian Federation

Last Updated: 09/26/2026

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Found 19 publications

Clinical and genetic characteristics of a large cohort of children with Alagille syndrome: identification of 57 new variants in the JAG1 gene.

Clinical and genetic characteristics of a large cohort of children with Alagille syndrome: identification of 57 new variants in the JAG1 gene.

Journal: Journal of human genetics

Published: May 20, 2025

WES-based screening of 7,000 newborns: A pilot study in Russia.

WES-based screening of 7,000 newborns: A pilot study in Russia.

Journal: HGG advances

Published: February 15, 2024

Combined Predictors of Long-Term Outcomes of Kasai Surgery in Infants with Biliary Atresia.

Combined Predictors of Long-Term Outcomes of Kasai Surgery in Infants with Biliary Atresia.

Journal: Pediatric gastroenterology, hepatology & nutrition

Published: January 10, 2024

Newly Described Mutations of the UNC45A Gene in Infants with Jaundice and Pruritus.

Newly Described Mutations of the UNC45A Gene in Infants with Jaundice and Pruritus.

Journal: Current pediatric reviews

Published: June 21, 2023

Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease.

Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease.

Journal: International journal of molecular sciences

Published: May 29, 2023

Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (ATP6AP1), and Liver Transplantation.

Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (ATP6AP1), and Liver Transplantation.

Journal: International journal of molecular sciences

Published: March 06, 2023

De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures.

De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures.

Journal: Genes

Published: December 31, 2022

The Experience of Using Multipotent Mesenchymal Stromal Cells in the Treatment of Severe Recurrent Cholangitis in Children with Biliary Atresia after Kasai Surgery.

The Experience of Using Multipotent Mesenchymal Stromal Cells in the Treatment of Severe Recurrent Cholangitis in Children with Biliary Atresia after Kasai Surgery.

Journal: Bulletin of experimental biology and medicine

Published: June 27, 2022

The newborns Torque teno virus dynamics depending on the term, feeding type and maternal viral load.

The newborns Torque teno virus dynamics depending on the term, feeding type and maternal viral load.

Journal: Acta virologica

Published: September 27, 2021

Congenital hypopituitarism with monosomy of chromosome 18

Congenital hypopituitarism with monosomy of chromosome 18

Journal: Problemy endokrinologii

Published: May 21, 2021

Transient hyperinsulinism in neonates

Transient hyperinsulinism in neonates

Journal: Problemy endokrinologii

Published: August 13, 2020

Long-Term Effects of Kasai Portoenterostomy for Biliary Atresia Treatment in Russia.

Long-Term Effects of Kasai Portoenterostomy for Biliary Atresia Treatment in Russia.

Journal: Diagnostics (Basel, Switzerland)

Published: August 05, 2020

Showing 1-12 of 19

Last Updated: 09/26/2026