Hasil Pencarian - Ilya V. Kanivets
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A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3) oleh Grigory S. Vasilyev, Tatiana I. Meshcheryakova, Elena N. Lukash, Svetlana S. Zhylina, Ilya V. Kanivets, Alexander N. Petrin
Diterbitkan 2016-08-01
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Clinical Manifestations of Various Molecular Cytogenetic Variants of Eight Cases of “8p Inverted Duplication/Deletion Syndrome” oleh Darya A. Yurchenko, Marina E. Minzhenkova, Elena L. Dadali, Zhanna G. Markova, Galina E. Rudenskaya, Galina N. Matyushchenko, Ilya V. Kanivets, Nadezda V. Shilova
Diterbitkan 2022-02-01
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Case Report: Compound Heterozygous Variants of the <i>MAN1B1</i> Gene in a Russian Patient with Rafiq Syndrome oleh Irina Zh. Zhalsanova, Ekatherina G. Ravzhaeva, Anna E. Postrigan, Gulnara N. Seitova, Daria I. Zhigalina, Vasilisa Yu. Udalova, Maryana M. Danina, Ilya V. Kanivets, Nikolay A. Skryabin
Diterbitkan 2022-09-01
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A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region oleh Tatyana A. Vasilyeva, Andrey V. Marakhonov, Marina E. Minzhenkova, Zhanna G. Markova, Nika V. Petrova, Natella V. Sukhanova, Philipp A. Koshkin, Denis V. Pyankov, Ilya V. Kanivets, Sergey A. Korostelev, Irina A. Krynskaya, Nadezhda V. Shilova, Sergey I. Kutsev, Vitaly V. Kadyshev, Rena A. Zinchenko
Diterbitkan 2020-09-01
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Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of <i>GNAO1</i> and <i>GNAI1</i> for the Dominant Disease oleh Gonzalo P. Solis, Tatyana V. Kozhanova, Alexey Koval, Svetlana S. Zhilina, Tatyana I. Mescheryakova, Aleksandr A. Abramov, Evgeny V. Ishmuratov, Ekaterina S. Bolshakova, Karina V. Osipova, Sergey O. Ayvazyan, Sébastien Lebon, Ilya V. Kanivets, Denis V. Pyankov, Sabina Troccaz, Denis N. Silachev, Nikolay N. Zavadenko, Andrey G. Prityko, Vladimir L. Katanaev
Diterbitkan 2021-10-01
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