Fatima M. Bostanova

Moskvorechie St, 1
Moscow, MOW 115522, Russian Federation

Last Updated: 09/26/2026

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Found 13 publications

Autosomal dominant dyskinesia associated with the ADCY5 gene

Autosomal dominant dyskinesia associated with the ADCY5 gene

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

Published: March 05, 2026

FA2H gene-associated spastic paraplegia (SPG35) - familial case with late onset

FA2H gene-associated spastic paraplegia (SPG35) - familial case with late onset

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

Published: June 03, 2025

Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.

Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.

Journal: Orphanet journal of rare diseases

Published: April 26, 2025

Patients with Papillary Renal Cancer and Germline Duplication of MET Exons 5-21.

Patients with Papillary Renal Cancer and Germline Duplication of MET Exons 5-21.

Journal: Biomedicines

Published: April 04, 2025

A novel FBXW11 variant in a patient with neurodevelopmental, jaw, eye, and digital syndrome.

A novel FBXW11 variant in a patient with neurodevelopmental, jaw, eye, and digital syndrome.

Journal: Neurogenetics

Published: December 30, 2024

A case of rare hereditary Siddiqi syndrome with novel neuropsychiatric signs

A case of rare hereditary Siddiqi syndrome with novel neuropsychiatric signs

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

Published: December 28, 2024

Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation.

Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation.

Journal: Genes

Published: April 16, 2024

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

Clinical Case of Mild Tatton-Brown-Rahman Syndrome Caused by a Nonsense Variant in DNMT3A Gene.

Clinical Case of Mild Tatton-Brown-Rahman Syndrome Caused by a Nonsense Variant in DNMT3A Gene.

Journal: Clinics and practice

Published: December 11, 2023

The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.

The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.

Journal: Genes

Published: November 28, 2023

The first case of a point pathogenic variant in the RREB1 gene in Noonan-like Rasopathy.

The first case of a point pathogenic variant in the RREB1 gene in Noonan-like Rasopathy.

Journal: Clinical genetics

Published: October 26, 2023

Four Novel Disease-Causing Variants in the NOTCH3 Gene in Russian Patients with CADASIL.

Four Novel Disease-Causing Variants in the NOTCH3 Gene in Russian Patients with CADASIL.

Journal: Genes

Published: August 01, 2023

Showing 1-12 of 13

Last Updated: 09/26/2026