Anatoly Tiulpakov

9PUBLICATIONS
35CO-AUTHORS
Gene mappingNeurogeneticsMedical infection agents (incl. prions)Solid tumoursDevelopmental genetics (incl. sex determination)
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Publications (9)

|Jun 26, 2026
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.

|Aug 11, 2022
Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1.

Sommayya Aftab, Diliara Gubaeva, Jayne A L Houghton

|Jul 01, 2022
A Founder Mutation in the POMC 5'-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA.

Iuliia Viakhireva, Natalia Kalinchenko, Evgeny Vasilyev

|Mar 24, 2020
[Virilizing ovarian tumor: the challenges of differential diagnosis].

M F Kalashnikova, N V Likhodey, A N Tiulpakov

|Mar 24, 2020
[Somatic mutations in the androgen receptor gene as the cause of androgen insensitivity syndrome].

N Y Kalinchenko, A A Kolodkina, V M Petrov

|Jan 02, 2020
A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus.

Dimitrios T Papadimitriou, Kleanthis Kleanthous, Emmanouil Manolakos

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Frequent Collaborators

3 joint publications

Evgeny Vasilyev

2 joint publications

V M Petrov

2 joint publications

Natalia Kalinchenko

1 joint publications

E O Mamedova