Anatoly N. Tiulpakov

Leninsky Pr, 117
Moscow, MOW 119571, Russian Federation

Last Updated: 09/26/2026

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Found 66 publications

Clinical and Genetic Characterization of a Russian Family with Bardet-Biedl Syndrome Carrying a Previously Undescribed Missense Variant and a Recurrent Pathogenic Frameshift Variant in BBS7 Gene.

Clinical and Genetic Characterization of a Russian Family with Bardet-Biedl Syndrome Carrying a Previously Undescribed Missense Variant and a Recurrent Pathogenic Frameshift Variant in BBS7 Gene.

Journal: Genes

Published: May 04, 2026

Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

Journal: American journal of human genetics

Published: December 18, 2025

A familial case of FLAD1 protein deficiency associated with impaired adrenal steroidogenesis.

A familial case of FLAD1 protein deficiency associated with impaired adrenal steroidogenesis.

Journal: JCI insight

Published: August 05, 2025

Non-classic lipoid adrenal hyperplasia: clinical cases report

Non-classic lipoid adrenal hyperplasia: clinical cases report

Journal: Problemy endokrinologii

Published: March 25, 2025

Culler-Jones syndrome polymorphism

Culler-Jones syndrome polymorphism

Journal: Problemy endokrinologii

Published: February 03, 2025

Clinical, hormonal and molecular genetic characteristics of 18 cases of disorders of sex development (DSD) 46,XY associated with variants in the SRD5A2 gene

Clinical, hormonal and molecular genetic characteristics of 18 cases of disorders of sex development (DSD) 46,XY associated with variants in the SRD5A2 gene

Journal: Problemy endokrinologii

Published: December 03, 2024

Clinical and molecular genetic features of cases of Floating-Harbor syndrome

Clinical and molecular genetic features of cases of Floating-Harbor syndrome

Journal: Problemy endokrinologii

Published: October 24, 2024

Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype.

Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype.

Journal: The Journal of clinical endocrinology and metabolism

Published: September 19, 2024

Two cases of congenital isolated adrenocorticotropic hormone deficiency due to pathogenic variants in TBX19

Two cases of congenital isolated adrenocorticotropic hormone deficiency due to pathogenic variants in TBX19

Journal: Problemy endokrinologii

Published: September 13, 2024

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II): clinical case

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II): clinical case

Journal: Problemy endokrinologii

Published: September 11, 2024

DICER1-syndrome with manifestation of genital embryonal rhabdomyosarcoma in the first year of life: case report

DICER1-syndrome with manifestation of genital embryonal rhabdomyosarcoma in the first year of life: case report

Journal: Problemy endokrinologii

Published: August 12, 2024

Primary hyperparathyroidism in children

Primary hyperparathyroidism in children

Journal: Problemy endokrinologii

Published: October 11, 2023

Showing 1-12 of 66

Last Updated: 09/26/2026