Genetic Variability of HUPRA Syndrome—A Case Report by Edita Petrosyan, Maria Molchanova, Berta Kushnir, Patritsia Povilaitite, Polina Tsygankova, Ekaterina Zakharova, Maria Proskura

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Four Novel Disease-Causing Variants in the <i>NOTCH3</i> Gene in Russian Patients with CADASIL by Fatima Bostanova, Polina Tsygankova, Ilya Nagornov, Elena Dadali, Lyudmila Bessonova, Aleksey Kulesh, Viktor Drobakha, Irina Danchenko, Ilya Kanivets, Ekaterina Zakharova

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Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants by Polina Tsygankova, Igor Bychkov, Marina Minzhenkova, Natalia Pechatnikova, Lyudmila Bessonova, Galina Buyanova, Irina Naumchik, Nikita Beskorovainiy, Vyacheslav Tabakov, Yulia Itkis, Nadezhda Shilova, Ekaterina Zakharova

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Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia by Denis Kistol, Polina Tsygankova, Tatiana Krylova, Igor Bychkov, Yulia Itkis, Ekaterina Nikolaeva, Svetlana Mikhailova, Maria Sumina, Natalia Pechatnikova, Sergey Kurbatov, Fatima Bostanova, Ochir Migiaev, Ekaterina Zakharova

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