Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies

por Sharova, Margarita, Markova, Tatyana, Sumina, Maria, Petukhova, Marina, Bulakh, Maria, Ryzhkova, Oxana, Nagornova, Tatyana, Ionova, Sofya, Marakhonov, Andrey, Dadali, Elena, Kutsev, Sergey
Publicado 2023

Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia

por Kistol, Denis, Tsygankova, Polina, Krylova, Tatiana, Bychkov, Igor, Itkis, Yulia, Nikolaeva, Ekaterina, Mikhailova, Svetlana, Sumina, Maria, Pechatnikova, Natalia, Kurbatov, Sergey, Bostanova, Fatima, Migiaev, Ochir, Zakharova, Ekaterina
Publicado 2023

Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant

por Merkuryeva, Elena, Markova, Tatiana, Tyurin, Anton, Valeeva, Diana, Kenis, Vladimir, Sumina, Maria, Sorokin, Igor, Shchagina, Olga, Skoblov, Mikhail, Nefedova, Maria, Khusainova, Rita, Zakharova, Ekaterina, Dadali, Elena, Kutsev, Sergey
Publicado 2023