Search Results - "Bessonova, Ludmila"

Experience in Molecular Genetic Diagnostics of Birt–Hogg–Dubé Syndrome: Characteristics of Identified Mutations and Evolution of the Methodological Approach.

Authors: Sermyagina, Irina G. Mikhaylenko, Dmitry S. Kuryakova, Natalya B. et al.

Source: International Journal of Molecular Sciences. Jun2026, Vol. 27 Issue 11, p4731. 15p.

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.

Authors: Levchenko, Olga Dadali, Elena Bessonova, Ludmila et al.

Source: International Journal of Molecular Sciences. Jul2022, Vol. 23 Issue 14, p7764-7764. 17p.

A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings.

Authors: Shchagina, Olga Bessonova, Ludmila Bychkov, Igor et al.

Source: Genes. Jul2020, Vol. 11 Issue 7, p821. 1p.

Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.

Authors: Mikhalchuk, Kristina Zabnenkova, Viktoria Braslavskaya, Svetlana et al.

Source: Clinical Genetics. Jul2025, Vol. 108 Issue 1, p58-68. 11p.

Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA‐KUČINSKAS syndrome.

Authors: Filatova, Alexandra Freire, Valeria Bessonova, Ludmila et al.

Source: Clinical Genetics. Mar2019, Vol. 95 Issue 3, p440-441. 2p. 1 Graph.

Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients.

Authors: Shchagina O Stepanova A Mishakova P et al.

Source: Biomedicines [Biomedicines] 2024 Oct 01; Vol. 12 (10). Date of Electronic Publication: 2024 Oct 01.

Publication Type: Journal Article

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101691304 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9059 (Print) Linking ISSN: 22279059 NLM ISO Abbreviation: Biomedicines Subsets: PubMed not MEDLINE