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Works (6)

Presentation of Rare Phenotypes Associated with the FKBP10 Gene

Genes
2024-05-23 | Journal article
Contributors: Elena S. Merkuryeva; Tatiana V. Markova; Vladimir M. Kenis; Olga E. Agranovich; Ivan M. Dan; Yulia Y. Kotalevskaya; Olga A. Shchagina; Oxana P. Ryzhkova; Sergei S. Fomenko; Elena L. Dadali et al.
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Clinico-radiological characteristics of two patients with geroderma osteodysplasticum caused by new nucleotide variants in the GORAB gene

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)
2024-03-08 | Journal article
Contributors: E. S. Merkuryeva; T. V. Markova; V. M. Kenis; А. N. Semyachkina; E. А. Nikolaeva; S. V. Bochenkov; A. S. Kuchina; O. P. Ryzhkova; N. A. Doroshchuk; E. L. Dadali
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Clinical and radiological characteristics of two patients with osteoporosis–pseudoglioma syndrome caused by a pathogenic homozygotic variant in the <i> LRP5 </i> gene

Pediatric Traumatology, Orthopaedics and Reconstructive Surgery
2023-12-19 | Journal article
Contributors: Elena S. Merkuryeva; Tatiana V. Markova; Vladimir M. Kenis; Vitaly V. Kadyshev; Tatiana S. Nagornova; Elena V. Noskova; Elena L. Dadali
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Phenotypic variability in children with Bruck syndrome type 2: Clinical cases

Pediatric Traumatology, Orthopaedics and Reconstructive Surgery
2023-12-19 | Journal article
Contributors: Svetlana I. Trofimova; Evgeniia A. Kochenova; Olga E. Agranovich; Dmitry S. Buklaev; Elena S. Merkuryeva; Tatiana V. Markova
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Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent <i>SGMS2</i> Gene Variant

International Journal of Molecular Sciences
2023-04 | Journal article | Author
Contributors: Elena Merkuryeva; Tatiana Markova; Anton Tyurin; Diana Valeeva; Vladimir Kenis; Maria Sumina; Igor Sorokin; Ольга Щагина; Mikhail Skoblov; Maria Nefedova et al.
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Multidisciplinary Digital Publishing Institute

Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review

Biomedicines
2022-09-22 | Journal article
Contributors: Anton Tyurin; Elena Merkuryeva; Aliya Zaripova; Tatyana Markova; Tatyana Nagornova; Ilya Dantsev; Dina Nadyrshina; Ekaterina Zakharova; Rita Khusainova
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